Kiera's Road with CDKL-5

Good news!

2011-04-25T12:53:00.004-05:00

The test that Kiera had to see if she had a Protein losing Disease came back negative! That is great news, and with starting Beneprotein, her levels are back in normal range. It is still not clear as to why she was so low for so long but sometimes you just have to be happy with what's in front of you at that moment.
The edema that Kiera had is also gone now and she is down 7 LBS. Most of that weight loss might be from the edema but some might be from a vomiting protocol. It turns out that Kiera is not always getting her full tube feedings and is losing more fluid than we are replacing at times. This is a tough time of the year for her with spring around the corner. We now have to keep our eyes on the potassium level since we are venting her more often again.

We had a great appointment with one of Kiera's Doctors last Friday (I feel bad for him sometimes because it's never just one thing, and this was a follow up from her hospitalization, and we never talked about that, ran out of time) I pointed out that when Kiera needs to be vented she can lose 500cc or more and also during the time that she is vented she is missing some of the feeding. But in the end, we really have no other choice but to follow this protocol otherwise Kiera is at more risk for aspirations.

Her Doctor has ordered a few more tests to see where Kiera is at and her RN wanted another EKG done because of the tachycardia that developed about four years ago and suddenly. That was the same time that the low blood pressures started too. We are also going to be doing a post-void residual volume to make sure that she is emptying her bladder because there is a concern that if we are adding more water to help her void, and she is not emptying her bladder, that could then back up into the kidneys and cause other issues.

We are going to see if Kiera can have another VEEG to see if the vomiting is seizure related. If it turn out to be, there is really nothing we can do about it, but if they are not then we have other things to look into. The Diet has been questioned because it's not healthy (high fat, low carb, low protein) she has been on this for 7 years and when she was not on it, she was having more trouble with vomiting and she just hung her head all the time. We have been tossing around the VNS (vagus nerve stimulator) I need to talk with her epileptologist about the other benefits the VNS might do to help Kiera, not only for better seizure control but for digestive and heart issues.

Her Doctor said that Kiera is a rule breaker and things are a double edge sword with her. I think that is so true. things were so much easier when she was younger when all we really had to deal with was the epilepsy and the vomiting. Yes there was the hours on end crying and then laughing and the not sleeping for days then sleeping for a few more right after. These issues are a bit more complicated and seem to have many levels to them. I am so glad that we have some very good Doctors that don't just blow us off. We have a wonderful team and all but her primary specializes in the special needs population, we are very luck!

2011-04-21T13:31:00.003-05:00

It's strange how some things, and or days hit you. People will ask about Kiera, its usually "How is she doing?" I know they really don't want to know, they are just being polite. There are days that I give a simple answer as well like, "She is doing fine" now I say "She is doing well today" the topic usually ends there. People that ask really don't want to know the details, is a matter of fact, more times than not my friends don't even know when she is in the hospital any more. The friends I used to have when my children were young are not around or at least not much anymore. Don't get me wrong, I am not by any means blaming this on Kiera, it's this life I was dealt and people just don't know what to say or do. The friends that I have made after my children were born are mostly because of Kiera, but most I have not met face to face. The contact list in my phone has more Doctors names than the average person I am sure. My medical vocabulary is boring to most maybe because people don't know what the heck I'm talking about. Of course Kiera has a few constant cheerleaders that in return are my support as well, I cant thank them enough.

My son sat in the living room about a year ago and asked me why I am not upset that he is not more involved in Kiera's life, I can't understand why he would ask this, I don't expect anyone to be involved in her life but my husband and me. It's been 24 years and as the years go by our life gets more and more isolated and I suppose it might be because Kiera's life is getting increasingly complicated that I am more absorbed with all that goes on, so that in itself is very isolating. I am not writing this so people will feel sad or bad about this life I live, but I know the ones that do live this life will and can relate. As sad as this is going to sound I am happy that we have found more families that are effected by CDKL-5 even though there are not many, but together we support each other and do really know what it's like day to day. There are good days and there are not so good days and I know those families are always going to be there.
Many people call these families their CDKL-5 family, I understand that so well.

April 5, 2011

2011-04-05T15:59:00.005-05:00

We are so happy that Kiera's Doctor came back and called to talk about taking Kiera off the coumidan, it's one of those meds that the side effects would be more risky than the condition itself.

Kiera's seizures are up again and she is requiring more rescue medications over the last few weeks, even today she has used up her allowed dosage for 24 hours and is still having a lot of cluster seizures. We are calling her Epileptologist to see her soon. I think we may have to rewrite the already comlicated seizure protocol in a few ways. Kiera gets a Diastat pill that is crushed and put down the J-tube for one type of seizure we have targeted, then she gets a liquid medication called Diastat Intensol, this is given bucally (in the side of her cheek). This was prescribed because it is the most direct and effective way to get this med into her so the seizure will stop. There was a very scary situation that happened last Friday while Kiera was taking her shower. Kiera sits in a special needs bath chair to take a bath, unfortunately Kiera has not been able to take a real bath for more than a year because of her yeast infection that has really not gone away, so instead she gets a shower but still needs the bath chair to support her. While in te shower Kiera had a 10 minute seizure that she needed the Diastat Intensol. While in the bath chair, Kiera is reclined a bit but while giving her the rescue med and at the same time trying to hold her head up, Kiera slipped her head out of the LPN's hand and by doing that the Diastat went right down into her lungs. She then started coughing and it sounded wet. Kiera then was moved to her bed and per protocol after getting a rescue med, Kiera is monitored with the ox monitor.

Her O2 was dropping... 89%...... 78%. We started her on 5lt of oxygen and did some pummeling. Her lungs sounded diminished. Kiera started to get pale and then became unresponsive.

The LPN said that she was shaking Kiera and was talking loud into her ear and Kiera did not respond.

911 was called and off she went to the ER.

Kiera was placed on 2LT of oxygen and after about 1-2 hours, she had a chest x-ray. 4 hours later, Kiera was vocalizing and acting like herself.... very strange! She reacted so bad to this medication although she has received this many times in the past, so it had to be the fact that she aspirated the Diastat. I did look this up on the web and what I found that this route (inhalation) is NOT recommended. That route has caused what is called Pulmonary Toxicity. Kiera just has a tendency to throw her head back and she is so strong that this can happen very easy. I feel that we need to look at what we can do while she is in the bath and we are in that situation again.

While Kiera was at the ER, her Doctor calls me, I thought 'Wow, he already knows she is there?' lol, no, he was calling as a follow up from our conversation the other day. He had talked to a few of Kiera's other Doctors about everything that is going on with her (edema, right side considerably more swollen and at times turns purple, and the hypoproteinemia (low protein))

He did talk with Kiera's dietitian to see what we can do to add more protein with a diet that is already high fat, low protein, low carbohydrate. He also talked with Kiera's endo and together they want to test Kiera for a protein waisting disease. Kiera has been showing low protein levels (from what I cal gather) since December, maybe even longer.

We are now seeing that Kiera will not void for 8-19 hours, so she is on a voiding protocol, but why is this happening now? her kidneys are fine.... always something. her seizures were up for a few weeks, she had 52 seizures last month and her average is about 35-40 per month. Her Epileptologest was called and she gave us two opptions, one, to increase a med that we are working in getting off~ lyrica, or to try a new drug...we thought to do nothing and thank God, today her seizures are down again. We did start Beneprotein for the low protein levels that she has had and two days later the seizure streak broke, coincidence I think.

The veinous doppler ultra sound did show something

2011-03-30T15:27:00.003-05:00

Kiera had the VDU done last Thursday and the results are that she has thick blood and has many small blood clots in the small veins. That same nigh she started a medication called Coumadin, it's a blood thinner. It's also a very scary medication to be on. The Thrombosis (Blood clots) are also very scary as well. She has had 2 INR tests done to see how thin her blood is after taking the medication. The first test was 5 days after starting Coumadin and that one read 0.9. The goal is 1-2. I am waiting to hear what it read today and move from there. Prior to the veinous ultra sound, Kiera had a EKG to make sure that the right side of her heart was fine. The tech could not see the right side of the heart for some reason. I don't know why they could not view it but they "assumed' that the right side was normal. There was a note on the report saying (stage 1 distolic dysfunction) of course I looked that up and now have many more questions for her Doctor. How timely, Kiera's regular Doctor just called, he is back from vacation. He is taking Kiera off the Coumadin, he says it is too risky of a medication for Kiera to be on and the small blood clots that are in the small veins are not at risk of moving and getting into the heart, lungs, and brain....whewwww! We told him that the edema was a bit less now, but he said that the Coumadin should not have made any difference with that. So we are kind of back to square one as far as the edema and the more concerning issue with the right sided swelling with her arm turning purple. We were also told that in order to look at the right heart Kiera would have to go through a very invasive procedure that not many Doctors even do any more. I am guessing that the stage 1 distolic dysfunction may be caused from the tachycardia that Kiera has. Next step is to see the endocrinologist. I should have named her Mystery because she sure is...

2011-03-23T15:45:00.002-05:00

Tomorrow Kiera is going to have a test called a doppler ultrasound on her vains. We are hoping to find an answer for the extra edema on the right side. She has Genralized edema from an unknown cause but the localized edema is a bit worrisome.

Can she just get a break?

2011-03-21T11:58:00.003-05:00

It's again been a while sence my last entry, there just seems to be something always going on.
For some reason Kiera's pain has been increasing over the last year without any answer. It breaks my heart that we can't take that away. She also has been dealing with a bad yeast infection that is also around the g and j sites. We have used everything imaginable to take care of this and some of the times the topicals work for a bit but it always comes back, she really does not go for more than a week without the rash....poor girl!

Kiera has also been having J-tube issues (when has she not!)which has brought her into the hospital only because we have to keep her hydrated and the only way to do that is to do an IV. We really believe that the placement of the new J was a failure and it's caused a lot of problems. We have been told that it would be highly unlikly to find a Doctor to re-do the surgery. That really leaves me wondering about the years to come... what would be the next step if we can no longer feed her via the J?

Latley, Kiera has been having more emesis episodes, they can be bad such as projectile vomiting. Today her tempature is up a bit, so we will see what will happen next.

Kiera has again developed edima again from an unknown cause, the other day as I was visiting her I noticed that her right arm/hand and leg/foot were much more pufffy than the left side. About 3 days prior to this we had an appointment with one of her Doctors who just about covers everything when we see him. At that appointment it was determend that Kiera should have another EKG to look specifically at the right side of her heart, well over the last year Kiera's curve in her spine has gone from 42 degrease to 65 degrease and the curve is to the right, with that I think that made it hard to see the right side of her heart. The left side looked fine so it was "assumed" that the right side was fine as well.... that does not set well with me. I had talked to Kiera's Doctor after the results were sent to him and told him about the new right side puffieness, He has now orderd a Doppler Ultrasound on her vains. That is not untel the 27th of this month so there must not have been a rush to get this done.

She did get her new bed and a fantastic new wheelchair. The bed is a Sleepsafe bed, it's wonderful and I think Kiera is very comfortable in it!
I would love to see her have many more happy, healthy days in the future... still hopping.

Rough night...

2010-09-14T08:07:00.004-05:00

We were suposed to go on an appointment, this is one we have already canceled before, but yesterday Kiera was having an off day and then vomited.
Ove the night hours, Kiera was very agitated, so agitated she wriggeled herself right out of her brief! She then had a 9 minute seizure and finnaly fell asleep around 6am. I am hoping that this is not heading into something more and as of right now her lungs sound fine.
It seems that we might be teetering right now.... we will see how the rest of the night goes. Kiera's O2 has droprd down in the low 80's 2 times today which required oxygen, but her lungs are still sounding ok....

Very long seizures again...

2010-08-24T09:23:00.003-05:00

Well it's not unexpected because we are decreasing one of her seizure meds but Kiera had a 31 minute GTC seizure on Sunday, the day before she had a very hard GTC that lasted 14 minutes. They are so strong I am surprised that she has not broke anything yet with them.

With lowering the Lyrica, she has lost a little weight. Kiera is now at 102 LBS. I think that she will continue to loose as we go off the lyrica but we are not alarmed, neither my husband or I were overweight in our young 20's.

We have brought in a Palliative care team to help with the future needs that Kiera might be facing. Kiera has restrictive lung disease on the right, secondary to neuromuscular scoliosis. As her curve progresses her lung capacity will diminish and Kiera may have more pain from her back. Surgery is always an option, but it's not for everyone. We will know more in December after her Ortho appointment as far as where her curve is.

We have been working to get Kiera back up into her stander but she is not a big fan :( I am not surprised though, it's been over 1 1/2 years since she was in her stander and there have been a lot of changes with her body since then.

We are also looking for a suitable bed for Kiera, the one she has just has not held up to the use that we need it too. The zipper has been fixed a number of times over the last 3 years, and the crank to go up and down and elevate her head, keep bending and the more it gets fixed, the weaker it is, so eventually that is going to break! Kiera needs her bath chair adapted again because of the curve on her spine has increased AND her wheelchair seat needs to be looked at or a new one made... I feel like it's a loosing battle with all of her equipment and bracing!!!!

We were supposed to see her dietitian today but I cancelled it, I am tired of having appointments 'just because it's time' today's appointment would have not changed anything, so why get Kiera up so early to shower, dress, fix her hair (all of which she does not care for) and drive through rush hour traffic for 25-30 minutes, just for a check-up? I just don't see it!

This Saturday is my birthday and I love my birthday ( I don't know why, I just do!) but this birthday I will be spending it at a funeral. I will be 3 1/2 to 4 hours away from Kiera, I hope that she will be okay over the weekend.

On a more up beat note, I bought Kiera real Cheerleaders pom-pon's, they are the color of our Football team the Vikings!!! I am so bad, I want to give them to her today, but her Birthday is not until October!!!!! I think I am going to have my husband hide them from ME so I don't 'accidentally put them in my car and somehow they end up at Kiera's home'!!!!!

Thank You!

2010-07-27T12:46:00.005-05:00

For all of you that have made comments on this blog, thank you! I have to translate your comments most of the time, but your messages are very nice! :)

Wow, it's already been one year since Kiera's surgery

2010-07-13T17:00:00.004-05:00

It's hard to believe that a year has gone by already since Kiera had her emergency surgery last July 4th.
I still remember how I felt when I was asked for my verbal consent to go ahead with emergency surgery. I also can remember what the drive home from up north was like and having the fear that we were not going to get there before something horrible would happen.
Her scar is still there, and issues around the surgery, but unrelated are still present....and always will be now. she was critical and had to be placed on a ventilator even before the surgery due to aspirating on the contrast the Doctors gave her. But Kiera's here, and has proven to be a very strong young woman.

Over the last few day's Kiera has been in one of her giggly moods which makes everyone around her very happy, love that!!!

2010-06-16T01:21:00.003-05:00

Things are going okay right now, but Kiera's seizures are still up and we are choosing to ride them out...of course we have the rescue medication and all, but we have learned over the years to not jump every time she goes through these cycles.

last week we had to put into play her new protocol for aspiration episodes while at home. She had a emisis last week but her 02 sats did not drop this time ( they don't drop every time when she throws up) but the plan was put into play and Kiera did well.

I have always said that if I ever needed to go through any type of surgery, I will not complain what-so-ever only because Kiera has gone through SO much in her last 23 years and all the surgeries were because my husband and I made the decision to go ahead with each and every one of them. Kiera had no say in the matter. Two weeks ago I had to have something done and I have never been put under in my whole life. I needed to have an IV and it was placed in the bend of my elbow... wow, did that hurt! I started to think about every time Kiera has had to have IV's and she can have one in for quite some time, and I was feeling the pain....? what does Kiera go through every time?

On a more positive note, our organization had just received our 501(c)3 status!!! We are now listed as a registered non-profit organization. Our name is 'International Foundation for CDKL5 research' (IFCR) Our web site will be launched very soon. We have a lot of work to do this year and our hope is to find more ways to fund the research that so desperately needs to continue so our dream of finding a cure can be more attainable.

2010-06-02T15:35:00.005-05:00

There comes a time where you just have to let go, or at least accept how things are and where they might be heading.

About 1 1/2 weeks ago Kiera ended up in the hospital again because prior to going in, she was having issues with gagging that finally turned into vomiting. Kiera's O2 dropped again and with suctioning and oxygen, it just would not go back up. 911 was called for transport.
I was with a friend while he was shopping for new flooring, the store that we happened to be at, at the moment was between Kiera's home and the hospital. About 20 minutes after I got the call that she was heading into the hospital, I saw an ambulance driving about 70 miles per hour on the freeway. I just knew that Kiera was in that vehicle.... the timing was right and I just felt sick.

The chest x-ray did show aspiration, so Kiera remained on oxygen and started on an iv antibiotic. On day 2 she was back to herself!
The hospitalization just prior to this one was identical to this one.... but this is not typical if you have read my earlier notes.

Kiera was out of the hospital within 4 days! The hospital proposed writing a protocol that might keep Kiera at home (in situations like the last two) and try to clear her up at home. My fear...or one of my fears is the fact that while at home, we have never been successfully getting her O2 even up into the low 90's after an episode and the response time for the EMT's is around 10 minutes.

Her Doctor is working on the first draft and I hope that by this Friday I will be able to read what he has so far. I am worried for the first time that we will have to put this protocol into play.

I do however understand partly where the hospital is coming from. They say that if these kind of situations come up and we can take care of this at home, that would be best for Kiera... I agree with this wholeheartedly, but Kiera can turn very quickly so it feels like this could be a ticking time bomb.

Over the Memorial weekend my husband and I were able to get away to my in laws home up north. It was a nice long weekend and much needed. Before leaving for out of town I always tell Kiera's home that we are not going to be in town, well now it's a joke with us all. We always say "Don't tell Kiera" I can count on both hands how many times we raced back home because Kiera was in trouble.... you have to laugh about things sometimes!

We were planing on staying up north through Tuesday, but after looking at my calendar I saw that Kiera had an appointment that day :( so at first I tried to reschedule but the next available appointment was not for another 6 months. This was with her spine Doctor and we had some issues that I did not feel we could wait for another 6 months, so we could not cancel.

In earlier notes I talked about Kiera's TLSO (back brace) and how she has not been able to wear it. I have also talked about the placement of Kiera's new J tube and my frustrations with the whole thing.

Let me back up just a bit, we see this Doctor every 6 months so our last visit was last December. Kiera had a spine x-ray while in her TLSO and in her stander. Kiera did not like this at all because she had not worn the brace or stood in her stander for over one year. While taking this x-ray in December Kiera started to cry and then went into a seizure, doing this calmed her body enough to get a good x-ray.
That x-ray showed her curve at 49 degrees.

This time we took her out of her wheelchair and she was placed on a small bench (this is always so hard to do and Kiera can not sit without total support) she looked awful and again, she was very uncomfortable. This x-ray showed a 75 degree curve. Surgery is usually recommended at 50 degrees.

When we were called back to talk with her Doctor, the x-rays were already up on the lighted screen and I remember thinking to myself 'that has got to be about 75 degrees'.
Kiera's Doctor came in and I started with the problem with her back brace. Since Kiera's twisted bowel surgery last July that caused the Doctors to have to relocate her J tube, bracing Kiera's back has become impossible...for a few reasons. One huge issue is that there needs to be so much pressure applied to Kiera's hips and the new J is right above the bend of her waist. placing the brace then causes stomach acids to leak out and it burns her skin immediately. The burn is very bad and hurts Kiera, understandably so. The burn itself is very difficult to heal after it happens. SO.... the brace is out....unless we can find a GI doctor that will agree to do another surgery on her J tube, that is highly doubtful at this point.

I then asked about the progression of a nueromuscular curve if we can't use the brace and how that would effect her lung function. He said that her curve will most likely continue to get worse and in turn so could her lung function. Kiera's right lung is already compromised because of the direction of the curve on the top part of her back.

We then talked about pain with this degree of Kyphosis. He said that some people that are more' with it' with in their days, will say that it is painful, others might say that they are not in pain. We have been seeing more signs and symptoms of pain with Kiera.

We also talked about the true benefits of continuing the use of her stander (Kiera can not use her stander without her back brace, she just does not have the trunk control) He told me that if at all possible Kiera should get back into it. We will have to see how we can adapt it so she will have the support she needs to be safe while using it. Then there is always 'will she be comfortable in the stander after not using it for so long?'
At the end of this appointment I asked what her x-ray read and he said that it was at a 75 degree curve... but we are comparing apples to oranges, so next time the x-ray will be done in her wheelchair so it will be more comparable to the x-ray from last December.

I feel sometimes I can never get any traction in life.

How time can get away from me...

2010-03-01T17:11:00.003-06:00

It's been so long since I have blogged anything here.

July is past us now and Kiera's surgery site is looking good. We are still having issues with the J tube site, it's been a constant battle with leaking that leads to a big rash around her stomach.
Her Doctors keep telling us that J's are notorious for this, but I tend to disagree only for the fact that the old j did not do this, it was up a bit higher than the new one so I think that might be part of the issue.

We have tried everything we can think of and nothing seems to help the rash, but then why would anything help when there is a constant issue with leaking?

I hope to one day find the answer but I hope that would not involve another surgery.

Kiera has been doing okay since July although a few times in and out of the hospital, but mostly related to the surgery.
She was just in for 3 days for what we think may have been a intestinal bug, but with Kiera nothing is ever simple.
Kiera seemed to have had a cold the day prior and the next morning we had an early appointment. While getting ready Kiera vomited, the house called me to see what we should do about the appointment and it was decided that we cancel because this was going to be an all day appointment and if Kiera was not feeling well, I did not want to put her through this.

The house called the clinic to cancel, then with-in a half an hour they called me back to say that Kiera had thrown up 2 more times and that her Oxygen was down to the mid to low 60's. They tried suctioning and gave 10LT of O2, that only brought her Oxygen up to the mid 80's. 911 was called and the EMT's made the decision to take Kiera to a local hospital rather than the one that we use in the city to get her stabilized.

We met her at the hospital and she did not look great, she was pale and she continued to vomit. Her heart rate was higher than her normal (she has tachycardia) and her blood pressure was at her normal low, but the Doctors were worried about this until we told them that this was where Kiera's numbers are most of the time.
At one point her fingers and toes got very gray and the nail beds were purple, then she started to just shiver, she would do that and then quit, then do it again... very scary to see as her mom.

She did need to be on oxygen up until the day she left the hospital but did not need to remain on it.
So in the end it seemed to be a 24 hour bug with the added aspiration episode to complicate things for a bit.

Kiera just had a nice break from her seizures since the hospital stay, she went 13 days without any seizures!!
But now they are back with a vengance, it's strange how things can change so quickly in just a day.
Yesterday she had 5 seizures ranging between 7 to 13 minutes, two of them required rescue meds and today 3 seizures, so just to try to stop them from continuing today, she received another rescue med.

We will see what tomorrow will bring.

Still in the PICU

2009-11-11T19:57:00.004-06:00

July 12

Today there has been no change except the BI PAP has been off since 8:00pm last night with Kiera's Oxygen holding at 94% on room air but she is still in need of frequent deep suctioning. Kiera is starting to come out of the sedation a bit more today and she was very itchy because of the mask.

It looks like things are starting to turn the corner some today!

July 13

There were no great changes for the better today but, then again there has not been any huge set backs either.

Today Kiera was transferred out of the PICU to a Gellette Childrens floor. There is a huge difference from being on a regular adult floor in any hospital and staying on the Gillette Childrens floor. Gillette is a specialty hospital for Children who have special needs, the hospital staff are so used to working with children/adults like my daughter and don't get rattled when she has a seizure.

Gillette just changed their age limit from 18 years old to 45 years old, that means that Kiera can always go to this hospital until she turns 45, for now this is great news, if and when that day comes that she can no longer use Gillette, we will cross that bridge then.

Kiera's O2 was still up and down throughout the day and night. She was still in some pain but she did just just have major abdominal surgery... she was very agitated and doing lots of gaging despite the pain meds.

Moving into a regular room, there is usually just a hospital bed, but Kiera has a way to wriggle herself out of any hospital bed. Two to three days before her transfer, I spoke to many staff members about the need of a enclosed bed system while she is hospitalized. The last thing Kiera needs it to fall out of the bed after such a horrible surgery.

We got to her room and no enclosed bed, just a regular hospital bed, this is so frustrating just because nothing moves fast in a hospital.

A bed was finally delivered the next day.

July 14th

Again, no change, O2 up and down, suctioning often, temp still present, now concerns about the incision, it was a bit red down below the brief area. Dr. was consulted and he then consulted the GI Doctors. Late this night the Surgeon came in to inspect Kiera's incision and stated that it was healing well.

Kiera continued to wretch and show signs of nausea, so the RN wanted to reduce the feeding rate to see that would elevate the gaging. Dr agreed to try this for the night hours.

What a horrible July!!!

2009-07-10T00:46:00.023-05:00

July 3rd and 4th

I was so excited to go to our cabin for the 4th of July holiday, my sister and her husband were going to join us and we always have so much fun together. They drove up late on the 3rd.

It was about midnight on the 3rd when we started to get phone calls from Kiera's home. The staff told us that Kiera had vomited a few times that day, and that her feeding tube (j mic-key) was giving them problems. The staff tried to change it out thinking that maybe it was just a bad tube. When they took it out, 3 cups of Kiera's formula came poring out. The staff then noticed that Kiera was cold to the touch, she also begain showing a temp of 95.1, her pulse was at 157, resp 54, blood pressure 98/70, and O2 sats at 99%.

The staff attempted to give her a water flush and her scheduled medications, this was unsucsessful, the feeding kept backing up into the syringe. Kiera was pale by then and her blood glucose read 136.

911 was called, she was taken to the hospital around 1:45 AM.

Kiera arrived at the hospital around 2:45AM with a LPN from her home. Her vitals upon arrival were; Temp-99.3, pulse-165, resp- 32, blood pressure-126/63, and still her O2 was at 100%.

Kiera was breathing rapidly.

It was the 3rd of July and that is always a very busy time for hospitals. The medical staff did make a comment that they were getting tons of casualties coming in at that time. Kiera must have not looked critical to the Doctors so they just had a iv for fluids placed, hooked her up to a heart monitor and had labs drawn.

It was about 5:00 AM when they started to prep her for a cat scan and abdominal x-rays. It is still not clear to me as to what really happened (all the notes say something a bit different) but apparently they gave Kiera the contrast that you get before a scan on the intestines. I still don't know what type of contrast that they used either, one is water souluble and the other would be toxic if it got into your lungs. They must have given it to her through her G mic-key, this is the feeding tube that goes right into the stomach, the J mic-key goes directly into the lower (small) intestines, so right after getting the contrast, Kiera vomited and then aspirated contrast right into her lungs!

Kiera's O2 droped to the low 70's, the Doctors tried suctioning and nothing was helping. Kiera was then placed on 10 Lt of oxygen and started her on a non-rebreather mask, O2 sats remained in the upper 70's.

Doctor stated that her blood gasses were all out of normal range. Kiera was then moved to a critical care room, sedated, intubated and placed on a ventilator.

All of this happened before she even had the cat scan.

By this time it was about 8:45 in the morning. The Doctors then took her in for the X-ray. The next thing I know is i'm getting a call on my cell, the Doctor on the other end was asking for my verbal permision to do emergency surgery. The Abdominal CT scan revealed a vuvulus, a twisting in the intestinal tract. She told me what had happened with the contrast and after that I dont think I heard much more of what she was saying. I wanted to just blink my eyes and then be with my daughter at this point.

The Doctor said that they saw fluid in the stomach cavity as well, I know that that that alone can be a very bad situation. The scan also showed a section of the intestines was noted to have been herniated.

I must have not said much to the Doctor on the phone because as she was explaning this surgery and all the risks to me, she paused and then said "...or we could do nothing, and that would end in death" I was taken back a bit from this comment and it probably got my attention then, so I said "Yes you have my consent, of course you do, Kiera is full code"

Kiera was a very sick girl and now was critical. I thought the first time she was intabated 2+ years ago was horrible, this was much worse.

Our three hour drive home was the longest and quietist drive I have had. We were both very scared that Kiera was not going to make it through this, and we were not going to get there in time.

By the time we arrived at the hospital it was 3 1/2 hour later, we had our dog with us and had to drop him off at home first. Right when we pulled up at home, I got an update call from the staff that was with Kiera, this was nice to get because I was so worried about her. The staff said that she did well with the surgery, she was still in recovery and the staff had not seen her yet.

One of the risk of after this kind of surgery is some people end up needing a colosomy bag, thank God Kiera didn't.

There was one foot of damaged bowel that the Doctors had to resection (remove). The twist was located right at the J mic-key site, so they had to stitch it closed and make a NEW J feeding site.

Kiera was then brought to the PICU. The nurses told us that we could go see her. I was stoped at the door to the PICU by a nurse who also works at the clinic that we use. She was working the PICU nursing station for the weekend and must have heard that Kiera came in and what for.

As she was talking to me, she gave me a hug and I could then see into the PICU. This hospital only has curtains around the beds, and most the time they are left open. So this is kind of funny... as I was done talking with this nurse, I was the first one to go through the door, then my husband and after him was the house staff. Well, in the 3rd bed from the door was a girl with dark curly hair, on a vent and asleep. I started to walk up to her and then see a man sitting in a chair that was facing the bed, this man was asleep and obviously a visitor... he has a plaid shirt on and a grimmy old hat. My first thought was 'Who is this man? why is he that close to my daughter?' I even, actually took one step around his chair to get to my daughter! This is when I see the nurses a few beds down waving their hands and pointing to the bed that Kiera WAS in! I just hope that man did not wake up and see what I did!!

I finally got to Kiera, she was so out of it. She was still on the ventilator because her lungs were so comprimized at this point. She was on continous NG suctioning for increased gastric secretions. Before surgery, they could not find a good vein to place a central line so they ended up using the femral vein, not a typical 1st chioce of the Doctors. Kiera was placed on Propofol for pain, antibiotics for aspiration and sepsis. There was an order for TPN feedings to be started due to her intolerance to feeding.

The Doctors that assisted with the surgery came up to talk with us, they told us that the fluid that they saw on the scan was just her formula, that was good news. They told us how the surgery went and said that it went beter than even they expected. This a bit strange to hear a Doctor say.

After talking with the Doctors we all realized now with the new J-tube, there is now no way to give Kiera her medication untel the new J was healed more. Kiera, by now has not recieved any of her seizure meds. All the rest of her medication could wait but the seizure meds were importaint to get as soon as possible. One of her seizure meds does come in IV form (lyrica) so we could give her that one saftley. later that day we gave her the other 2 seizure medications via her G mic-key, this was a bit scary because we don't give Kiera anything in her G, because of the risk of aspiration, we mainly use it for venting. But things did go well, and given the fact that she was on the ventilator she was not able to throw up, so we were okay doing this.

later that day, Kiera started to get very puffy, mostly in her upper exremities, so much so that her ID and Allergy wristbands were constricting at her wrists.

July 5th

Respitory Therapy was orderd every 4 hours around the clock. Kiera's lungs sounded coarse bilaterally. Kiera was still having problems with tachycardia (high heart rate). Her temp was still up despite the acetaminphen, so ice packs were used to help cool her down. Kiera had more labs drawn and results showed low K+ levels (2.6), the day before that level was 3.4, so it continued to drop. The Doctors then started an IV medication to suppliment the low levels. Kiera remained on the ventilator with 30% oxygen via vent.

July 6th

Kiera was getting the Propofol throughout the night to keep her sedated, she was also taking morphine for pain. Her temp was still up but what I found strange was a comment from one of the nurses, she said that the sudation medications will be weaned as they may be taking out the vent today... The IV in her arm was removed, the Propofol was also stoped. Kiera slowly wakes from sudation a bit before noon. The Doctor came by and said that she will be moved to the adolescent floor soon.

I could not even imagine that she was ready to move from the PICU, her vitals were not stable and she wa a very sick girl.

She continued to need Lasix for the edema. She was still getting the Neb treatments along with a vest treatment every 4 hours, and now she started to have seizures. Kiera was not ready to be moved!

Another Doctor came by and told us that they will not attempt to take the vent out today due to the exsessive sleepiness. The Respitory staff reported lower left lobe was still diminished.

July 7th

At 1:15 AM, Kiera was still getting Morphine for pain and her temp is up even higher that the day prior (101.2) Ice packs and cold washclothes were again used in attempt to cool her body down. At 5:00AM her temp was still going up (101.3) and again cold packs were being used.

The Respitory staff came in at 9:00AM and turned vent to C-PAP, Kiera was now breathing on her own. The IV fluid rate was decreased as the tube feeding rate increased.

The vent tube was pulled and the NG tube discontinued. Her O2 was at 98% while on 4 LT of Oxygen via naisal cannual.

The Doctor reported that the latest chest x-ray looked a "touch worse than yesterday" so he suggested more vest treatments may be helpful. Kiera was still on IV antibiotics as well as Lasix. The blood labs again were drawn and things were out of range still, her K+ was now at 2.1.

July 8th

Kiera was still in pain so she was getting Morphine and over night her temp started to rise again (100.3) and her lung sounds still diminished. Labs now show low HGB of 7.4, and all other labs abnormal. The Chest x-ray showed fliud in both lungs and her respirations are increasing. The attending Doctor was conserned with this because of the risk of her hyperventilating. She has been breathing so fast for so long now and was still kind of out of it.

Kiera needed 2 bags of blood transfutions due to the low HGB and her respirations still remained elevated. Kiera was still requiering 4 LT of Oxygen. The central line that was placed before surgery was now looking like it was getting infected so that was taken out and a PICC line was then inserted. Her temp was still up there and her breathing was still elevated, staff turned up O2 to 6 LT and had to use a AMBI bag to force O2 due to her oxygen droping down to the mid 80's. Her oxygen then went to 96%, but then dropped again to the mid 80's. The AMBI bag was used for the second time. A bit later a Hi-flow naisal cannual was then started due to Kiera's increased breathing and low oxygen readings. Around 11:00pm, Kiera was assesed and found to be slightly hypoactive, they did deep suctioning 2 times.

July 9th

Respitory treatments with vest treatments continue to be needed every 4 hours along with oral and nasal suctioning. Temp is being monitored and cool washcloths placed on her forehead and under her arms. She still reamins hypoactive. Today the chest x-ray shows the left lobe was looking beter but her right is is looking worse now. Kiera will remain in the PICU.

The Doctor wanted to remove the O2 to see how fast Kiera's oxygen levels would drop, they remained around 94-96 on room air, then later that morning they dropped to the low 90's so O2 was used again starting at 1 Lt. throughout the day. The O2 was continuously adjusted according to O2 sats and oral/nasal suctioning as needed to increase saturations.

The Doctor discussed the need for CPAP/BI PAP or possibly re-intabating Kiera for the fluctuating O2 sats. What a horrible thing to hear but I was not surprised at all to hear this. We all talked about how the tube may have been taken out too soon, we agreed that it was.

We then got the results from some cultures that were done eairler within the stay, it showed E coli. At 2:00pm a BI PAP was needed for increased resps and continued drops in Oxygen levels. Later that night the Doctor was paged due to continued increase with her respitory and after talking with the Doctor it ws thought that Kiera's blood PH might be low therefore causing the increase. More blood labs were drawn.

July 10

Oral/nasal suctioning as needed for drops in oxygen levels and to produce a productive cough. Kiera is still on the BI PAP at 3 Lt.O2. Kiera is now being tested for C-diff because of the antibiotics she has been getting and there is a concern over the high heart rate especially during suctioning.

More blood labs were done, all were within normal limits except for CO2. Kiera recieved a IV medication to help with this.

July 11

Kiera was still having trouble with her oxygen levels even on the BI PAP, (83-90%) deep suctioning was again needed. It was noted that Kiera was having several periods of apnea, they lasted anywhere from 4 seconds to 20 seconds in duration.

While Kiera was moved into her wheelchair the BI PAP was removed for a short time. The respitory thearpist stated that they wanted to begin the weaning process of 4 hours off and 2 hours on through the night

More seizures again.... I should have not said anything

2009-06-28T12:49:00.004-05:00

Last night around midnight Kiera had a 13 minute seizure. She was agitated right before the seizure so it makes me feel like she knew one was coming.
Today at 11:45 she had another 13 minute seizure so she needed more rescue meds.
She is zonked out now because of the darn meds.

No sezures and no appointments!!!!!

2009-06-24T17:18:00.003-05:00

I know that it's only Wed, but so far no seizures this week!!!!
I should not even have typed this because we know how that goes! But I am happy about this for today!

What a Tangled Web we Weave

2009-06-19T15:12:00.005-05:00

Boy it's hard when your a girl and you have epilepsy.

There just is so much that you need to know when you have uncontrolled epilepsy and in your late teens and early 20's.

I have been having some conversations with some ladies that I know, who also have epilepsy. We were talking about birth control medications and epilepsy.
There are some BC medications that can exacerbate seizures, and the 'Dot' that Kiera is on is one of the medications that can do this.

There is also a natural BC medication in the form of a cream, I would wonder how many carbohydrates are in this medication? Kiera is on the ketogenic diet, so carbs have to be limited, and any creams should be patted on, not rubbed in.

long term use of any BC medication has a negative side affect on the bones too, and we are already doing very pore in this area.

I need to plot her seizures again to see if I notice an increase in her seizure activity since starting the 'dot' if that is the case I will need to go down a new route.

Kiera is limited with what she can take in a few ways, first the Red dye allergy, next the keto diet, and lastly being on the keto diet, oh, and not being able to take anything by mouth.

The sad thing is that the current BC med that she is on, is not doing the trick. Kiera is still having 2+ period's per month and the reason why we have her on any BC medications is not to prevent a pregnancy, but to help keep the seizures down around her period and take away the horrible pain that she has with them. Right now we have made her life a bit more uncomfortable by adding this med that results in more period's rather than none!

I really thought this would get easier as she got older, it hasn't yet.

It's just one big circle!

2009-06-16T22:30:00.004-05:00

We had Kiera's Doctors appointment on Monday.
Just love this Doctor, he is so smart and seems to know just about everything!
He always takes ample time with us as I am sure he does with all his clients, but you leave there knowing that you have covered everything that needed to be covered.

Bottom line is that we are going to increase the dose of Kiera's birth control patch to try to get better control over her constant (or close to...) periods. We also hope that by controlling the periods better, we can control the seizures better too.
We talked about the edema and our appointment with her epileptologist and dietitian.
The epi told us that girls that take phenobarb and or a few other epilepsy drugs, might need a higher dose of any BC meds. also during the epi appointment we talked about stopping the lyrica wean for now to help to get Kiera more stabilized with her seizures, so this plan has then involved a conversation that we had with Kiera's dietitian about the extra weight gain and/or edema. Am I talking in circles yet??
So we are changing her diet in hopes to loose some of the weight.

After the period issue gets under control, we will again start the titration down from the lyrica.

Boy it's hard being a girl with epilepsy.

The Study is done!!!!!

2009-06-11T14:09:00.004-05:00

I just got an email from the doctor at BCM, she said that the paper is done and sent a copy to us!
A lot of it is hard to understand, but it's so nice to have something like this to give to Kiera's Doctors.

last Monday, Kiera had her appointment for her TLSO, thankfully it was just getting adjustments for now.
Tuesday Kiera saw a Stoma nurse, she has a rash around both the G and the J, the nurse thought it looked like yeast, just like the GI Doctor did a week ago, so she is on another med for this.
Today (Thursday) we saw a new epileptologist, she seems to be a great fit for us. she was very interested in Kiera's diagnosis of CDKL5 deletion and will learn anything she can about it. We gave her all the information we had and a copy of the BCM study.

She is willing to take Kiera off her seizure meds (yeah!) We will start that as soon as we get her other issues figured out, ie: menses every 2 weeks, increased weight over the last few months.
It's good to be back with this epilepsy group! (MEG)
Kiera slept all through this appointment because of getting her rescue meds time 2 today, but in a way it was okay, if she was not sleeping, she would of had a lot to say!!! At least we did not have to yell back and forth because Kiera just doesn't seem to take her turn! Haha!

Tomorrow (friday) we see her dietitian, she wanted us to try other things to help Kiera loose the extra weight before she would tweek the diet, but we are in a catch 22 right now because Kiera is having her menses every 2 weeks and because of that she is having more seizures, so we put the lyrica ween on hold to try to stabilize Kiera a bit, but Kiera is continuing to gain weight, soooo, we need to do something and soon, her afo's and TLSO have already been adjusted to accommodate the extra weight, but when you gain weight, your seizure meds need to be adjusted because the dose has to keep up with the weight gain, this is just crazy! So to me it makes since to decrease the calories in the diet, but it is the keto diet that is used for seizure control, this can get so confusing, UUURRRGGG!

Kiera can be so funny!

2009-06-05T13:01:00.005-05:00

Every since we took Kiera off the Topamax she has really been using her eyes much more and seems to smile and laugh more appropriately!

We were waiting in the waiting room at the orthopedics clinic and as one family was walking past us, Kiera looked right at them and and made a sigh sound, but sounded like a "H' sound, the mom looked at Kiera and responded to her sigh with a "Hi"
That to me, as Kiera's mother, was the best feeling, someone responded to Kiera as a person, not a wheelchair with a body in it.

Yesterday we had the final fitting of Kiera's left foot AFO (leg brace) after the edema has gotten so bad and we are not seeing any changes with it so far, thus making it impossible to wear her old one because it is just too tight.
So now she has both braces adjusted, so she is back in them.
Her right foot has turned in some since she was not been able to be braced for so long, her Orthopedic Spec. told me what could happen if that continued and it was not good, basically the calf muscles could contract so that it would turn her foot in even more and her heal cord would also shorten. This foot, Kiera has never needed surgery because it has always been flexible. I am glad that she is back in her braces.
While she gets up into her stander we will have to place a thin book or something like that under her brace at her toes, so this will flex her foot to give her a stretch that will correct this issue.

We are not ready to go into the stander quite yet though...on Monday we go to see the spec. that works with Kiera's TLSO, this too needs adjustments to accommodate the edema, I only hope that we don't have to start from scratch, UHHGGG! If that would be the case, it will be another month before she will be able to get back into her stander.
And we have another issue going on, her right hip is now 50% out of it's socket, we just noticed this about 1 month ago.

When we finally can get back into the stander, I am going to go to our clinic with Kiera and her stander, I want to get her up in it and have the PT evaluate how we are going to introduce this activity back into Kiera's routine, so she will be safe and without pain. I will ask for a stander schedule to work her back up to where she was before with this.
I also want to get an x-ray of Kiera while she is in the stander to see what her hip is doing.
I can not stand the thought of Kiera going through hip surgery again. the pain level of this surgery is right behind back surgery.

Last week we went to see Kiera's PMD (Physical Medicine Doctor) this Doctor is the one that gives Kiera the Botox shots in her left calf muscle, she noticed that Kiera's left foot was turning in much more again (due to not wearing her leg braces) so we used a bit more of the Botox in hopes to get better results.
We also, at this time talked about Botox in her jaw muscles to help with her teeth grinding. this Doctor does do this, she said that it can be very helpful, but was cautious because of Kiera's issue with secretions. She felt Kiera's jaw muscles and commented that they felt like a rubberband, they were very tight, and given the fact that her teeth are now like pancakes in the back, she explained to me that if this got worse, Kiera's back teeth would wear down so far to where she would, or could loose them so if that were to happen and Kiera is still grinding her teeth, she would eventually be grinding on her jaw bone, YIKES!!
So we did it, Kiera HATED the first shot, but I think that was because I was holding her still, and you know, most girls with CDKL5 are in constaint motion with her head.
But the second shot she handled just fine.
So we are keeping our fingers crossed in hopes that this works.

As far as seizures go, last month she went for 9 days without seizure activity!! yeah!!! that was between the 17-27th, today she is on day 3 without seizure activity.
We are again titrating down some with the Lyrica in hopes to lessen the edema. I think that the edema is still progressing so I have a feeling that she might have to come completely off to correct this problem.
We are going to see her new Epileptologist this coming Thursday, I am going to bring information about CDKL5 because I think that the more she understands about this disorder the better we can work together and start to take Kiera off more of her medications.
The keto diet is showing better results than medication with a small population of girls affected with CDKL5, this gives us hope.

Next week we are again, full of appointments. Kiera has appointments every day next week besides on Wednesday. Monday morning is going to be a very early one for Kiera, she will have to get up very early witch she does not like and then be fussed with, again is not a fan of when she does not want to be up! and then drive in morning rush hour, Yuck!
This will be her appointment for her TLSO, this is always a full day and is hard on Kiera, not looking forward to this day.

lets see what next week will bring.

Wow, it's been 3 months sence my last post!

2009-06-01T16:02:00.004-05:00

Boy, a lot has been going on over the last few months. There has been so many Doctors appointments but mostly because of odd issues not because Kiera has been ill, thank God!

She did however go through a 7 day illness, vomiting, temps, O2 dropping, but we managed to stay out of the hospital and I have to say I was amazed!

Her seizure activity has been up and down again, mostly up.
We did take her completely off one of her seizure medications, Topamax. She did do well while coming off it, we did expect increased seizure activity while titrating off.
But during the taper, Kiera did start to show more edema, so far she has gained 12 LBS since January, and she is still on the keto diet so her weight should be more stable than this.

During all of this, we lost her epileptologist, that was such a headache trying to find a new one. I was questioned why we thought that Kiera needed a epileptologist rather than a general neurologist, and was told they are really the same... so being who I am, I googled it and did find that there is a difference. Kiera's biggest neurological concern, for us is her epilepsy (of course there are many issues in this area, but the epilepsy is something that we can DO something about, hopefully)
So, anyway we were kind of on our own for a few months as we were titrating off the Topamax which was a very unsettling feeling.

As the edema and the increased seizure activity continued, we became more concerned. Kiera was on a roll with receiving rescue medications on a daily baces again so we had to do something.
I called the clinic where our epileptologist used to work and talked about my concerns (two years ago we were kind of at this same point with seizures and rescue medication, and Kiera ended up in the hospital, on a vent for 14 days and continued to stay there for up to 63 days, I just did not want to get anywhere close to that again) so they directed me to a peds epileptologist in the mean time.

This Doctor is great, right away she said that the edema is most likely caused by another seizure medication that Kiera is on, Lyrica.
I was talking about this for awhile, but none of Kiera's Doctors really looked into it.
So now we have been decreasing the Lyrica some, but there has not been any change in the edema. I then put a call into the dietician to try to adjust Kiera's diet and at this point the dietitian wants us to try other avenues before we play around with her diet. We did just change it because Kiera had a blood draw that showed low protein levels, and as a result we increased her protein in her diet but by doing this it increased her seizure activity, so we backed off the protein.
So we are going to try to decrease the Lyrica again.

I also had to get Kiera's AFO's adjusted too so she can get back up in her stander. She has not been able to stand since January. However, she can not stand without her TLSO (body brace) so that too will have to be adjusted or remade, but if we can get her weight down then we will have to redo all of the bracing, what a pain!

Currently Kiera's seizures are down again even though we are messing with the seizure medication, so it makes you wonder what the meds were doing for her anyway.

We had our first appointment with our geneticist since Kiera was diagnosed last May, it felt weired just because her job is done, she says that she does not need to see Kiera any more often than one time per year...just kind of bitter sweet.
She did ask me to gather information from all the parents that I know that have a child with cdkl5 deletions, she said the only way to gather needed information that would lead to more children diagnosed and sooner, is by talking with more families that are affected by this disorder, Doctors just don't have that kind of access.

Some exciting news we have is that the Doctor at Baylor College of Medicine that found Kiera's deletion has written a paper about Kiera and cdkl5. Kiera's deletion is very unusual because it is not a mis-coding, but a large deletion (missing chunk) and also involves the gene itself.
The paper is due to come out shortly!

Diastat again, but it's been a while.

2009-03-28T14:19:00.003-05:00

This morning Kiera had an 11 minute GTC, she needed diastat.
She is zonked out now.

The last time that she needed a rescue medication was on the 8th of this month, so I still think that we are doing well.

I hate the med, if only we could just let her ride it out, but I know that's not a good idea.
It just knocks her out s much.

But I did get a great video of her a few days ago while she was being loud and smiling.
On the video you can see how she is really using her eyes. I have a friend that calls Topamax, Dopamax. that name fits it better.

Coming down off the topamax we are seeing better eye contact and a bit more awareness of her surroundings.

We are so happy that she is coming off this medication!

Epileptologist leaving...

2009-03-24T13:18:00.004-05:00

So we need to interview another one.
It does get to be a pain in the neck when you have to retell your story to new Doctors and get them to understand your views about what works and what does not.

The topamax wean is still going well even though Kiera had a cold the other day and was given Benadril. This med lowers the threshold for seizures and so Kiera had 8 smaller seizures in a few hours.
Today she is very vocal (happy) and is not showing any signs of a cold.

We are still dealing with the edema and I am getting a bit concerned because it's now been about 1 month (I think) that we can not get her AFO's on, so in return, she has not stood in her stander.
I am worried about contractures developing, her left foot turning in more along with other issues like lung and batter problems.
Forget about the bone density problem that we already have.
I can already see some muscle mass loss in her lower legs. It will be a gradual introduction to standing again if we ever get back to it.

We are scheduled to see her Endo Doctor soon and he will want to take her off the BC shot, I sure hope that he has another great option for Kiera because she has so much trouble with her menses, pore girl :(

Kiera's edema is getting worse

2009-03-07T18:09:00.003-06:00

I think that I might have figured this out, but we will see.

After we started to take Kiera off the Topamax this is when we really started to see the edema issue, she always had slight swelling in her legs if she was in her chair for to long and especially if she had her afo's on.
But this is different, we can not even get the afo's on now, haven't for about 2 weeks now.
Some of the side effects of Topamax is weight loss, acne and some other more common side effects from seizure drugs.
The Lyrica side effects are weight gain, hair thinning, edema, and a burning feet sensation, kidney stuff and again among other side effects.

Well this is what I am thinking, Kiera was put on the Topamax before she was laced on the Lyrica, so she did loose weight at first and she started to get acne.
Then the Lyrica comes on board.
We did not see any real side effects besides thinning hair, and a bit of swelling, but nothing to be worried about.

Now we are coming off the Topamax and I think what we are seeing is the side effects of Lyrica that might have been masked from already being on the Topamax.

The other day she just kept rubbing her feet together and they were a bit pink, the swelling does not go away at all even after having her legs up. We are seeing hair on her shirt, maybe 10-15 strands. I pick one off and find another.

I think we should look at stopping the Topamax wean and starting the lyrica wean right away.

We are going to see a Adult Doctor next Thursday, he will get to the bottom of this, he always does.

Oh how I hate medication and what it does to Kiera.
I feel sick that we are causing this to her and she just has to deal with it.
Enough already!

Sometimes my head just spins...

2009-02-27T14:44:00.003-06:00

Kiera is doing well with the titration of the Topamax, we are going down very slowly though, slower than you would normally go off, but we definitely don't want to throw her into a tailspin.

We do have another issue going on and this is where I get so tired because with Kiera it just never seems to ever be a simple fix, and the issues are not 'normal' issues, uuuggghh!

I like to use the phrase "consistently inconsistent" that's Kiera!

So, she started Omega3 this week.
We have been dealing with some edema, more so than in the past.
Kiera has started to wear T.E.D.D socks to aid in the edema. She hates them, she has been fairly aggravated while they are on and I am thinking that they might be too small.
The other night after getting out of her stander, her afo's were taken off as well as the tedd socks, we noticed that her leg (just one of them) was puffier than her normal puffiness and that leg was cold to the touch, and also it was whiter in color.
We put her legs up and the swelling did go down, her leg warmed up again and the color came back.

She has been having, on average, 3 bm's per day so we still don't have that under control, this can also be contributing to the extra water weight.
She wears afo's and when the edema is bad she can not wear them, but that then does not help with the left foot contracture that she has that requires botox every 3 months so she can still be braced and so wearing the braced will allow her to keep using her stander. With Kiera's porous bones it is very important to keep her Bering weight as much or as long as we can.

She is already taking a medication for acne, and this medication is a diuretic, so I think that we might have to increase that medication to help with the edema.
If that does not work then we will have to get her afo's adjusted, but my thought on this is what happens if we do get the edema figured out after we had adjustments made to her afo's?

Then I was told today that Omega3 can be contributing to the loose stools, we are not sure about that but if that is whats going on with her that would be sad to me because we started her on Omega3 because there are studies out there that say that O3 is as good as carbaziphine, another seizure medication.
We started this in junction with the titration of the Topamax to maybe help keep the seizures down as we go off the topamax.

You can see how my head is spinning!
So where do you start? try a bigger pair of tedd socks? increase the diuretic? Stop the O3? get her afo's adjusted and ignore the rest?

And of course this all comes up on a Friday.
Oh and she has some eye thing going on now too.

We got through the night!

2009-02-22T10:24:00.003-06:00

But yesterday was a bit unsettling.
Kiera received the rescue med at 8:30 am, it knocked her out.
She slept all day and finally woke up around 6:15pm.

After getting the medication her O2 dropped down to 84, we shook her to arouse her a bit so the O2 would go back up and in a few minutes it did.

She was so zonked that her O2 was hanging around 94-97, not bad but Kiera normally runs at 100%.
She felt warm to the touch, but this is something that I have seen before after giving her a rescue med.

It is 10:30am and she is still asleep.
I am thinking that the dose that she is on is too high, maybe she would do better with 2cc rather than the 4?

Oh how I hate seizures!

It's been 5 days sence we started her med wean

2009-02-20T16:46:00.005-06:00

Well so far Kiera has been doing very well seizure wise while we are titrating down from the Topamax medication.

There has been a lot of changes that we are making right now and I dont like to make more than one change at a time but sometimes it has to happen.

Kiera is on a lot of medications and the bill from the pharmacy is growing, so today we decided to look at all that she takes and try to eliminate some that might not be helping her.

We are going to stop both her allergy meds and stop the probiotics.

Right now she is not at risk for getting C-diff so I feel okay with discontiuing this and the allergy med, well time will tell.

Her Epileptologist said today that she does not want Kiera to get a second dose of the new rescue medication diazapan in-tensol. If Kiera has a seizure lasting 10 minutes, she will get the medication, if the seizure lasts 5 plus minutes longer after getting the medication, she wants 911 to be called. Also, if after getting the rescue medication, if she were to have another seizure in a 24 hour peroid, she wants us to call 911.

We will see how this goes, my thought is that she will be taking a few trips to the ER.

Kiera has been wearing a pair of T.E.D.D socks because of some idema that she has but it does not seem to be working from what I can tell, and she hates them. I also worry about her bones, it taks about 10 minutes to put theses socks on and Kiera's bones are porus, and very thin. She is at risk for fractures and I get so worried that her ankels are going to break just by putting these on. We will see if we continue to wear these.

Update 2/21
Well what would you know, Kiera had a 14 minute GTC seizure early this morning, it was while she was getting woken up to take her bath, and bamm, she started to seize, she got the rescure medication at 10 minutes then continued to seize for another 4 minutes.
The medication just knocked her out, it is a new medication so we do not know how she was going to respond to it, now we now.
If she has another seizure in the next 24 hours we are told to call 911.
did I say I hate seizures???

We are going to start the Topamax ween!

2009-02-10T17:34:00.004-06:00

After the prolonged seizures a few weeks ago, I thought for sure Kiera's Epileptologist was not going to give us the go-ahead to start the ween, but Kiera has been doing very well seizure wise over the last few weeks so it is a go!

We will start next Monday and do the ween very slowly.

Kiera may also start Omega3 supplement which I am very excited about because there are a few studies out, one from MN, that talks about this as being just as good as Carbaziphine.
It has so many other benefits too. The one thing that I do worry about is that it can help with lowering blood pressure, that is one side affect we don't need. Kiera's blood pressure runs very low so that might be the deal breaker if its too much of a risk.
wish us tons of luck as we go through this titration!

We also found out that Kiera's curve on her spine has not gotten worse sense 6 months ago and we are very happy about that, we are hoping to put off back surgery as long as we can and maybe even never do it.

She is now a proud new owner of a pair of T.E.D.D sock which she does not like. I hope that it will help with the edema but I am very concerned about her brittle bones as they are being put on, it takes a good 7 -10 minutes to get them on correctly and safely, Kiera goes through so much I really hate to add things that bother her. Maybe she will get used to them, I guess time will tell.

She is scheduled to get Botox in her jaw muscles to help to stop her teeth grinding, she has worn her back teeth down so far that they are flat and smooth. I have never heard of this before but I guess it can be very helpful for some people. Her Dentist says that he has referred many children for this very same reason, so we will see what this will all entail, if it sounds too horrible then we will not go through with it.

It seems to always be a wild roller coaster ride, you never know how the next day is going to go and what is around the corner.

It seems like I keep posting the same story :(

2009-01-22T11:51:00.003-06:00

Well Kiera is still continuing to have the prolonged seizures, Tuesday night at midnight while she was sleeping she had a 16 minute GTC, then about 2 hours later she had a 10 minute cluster seizure.
Nothing has really changed as far as medications or her health so there seems to be no cause for the increase.
Kiera, although the seizures have increased, is still doing well, so that is something that we can hang our hat on.

Last night we watched American Idol (AI) and she was smiling a bit while vocalizing some, that was good to see.

Kiera and all the children that have CDKL5 are tough little cookies, they go through so much but keep bouncing back. Sometimes I think it's us parents that have a harder time with things as far as our children go.

Another long seizure

2009-01-16T17:10:00.004-06:00

I am feeling kind of sad today, Kiera had another long seizure on Wednesday, it was a 19 minute seizure.
She is not ill or anything like that, and even if she was sick, she would most likely not have any seizure activity.
Because of that, there is nothing to blame the seizure on. She is on three seizure medications now, and all are at their max doses. What do we have to loose if she comes off some of the medication? on the other hand, what would we have to gain if she was to come off some of them?

Another curve ball thrown at this rollercoaster.

2008-12-29T09:22:00.005-06:00

Kiera starting to seize last night around 10:30, she received a dose of Diastat at the 10 minute mark. The seizure continued for another 12 minutes so per protocol, she got her 2nd dose, the seizure still did not stop so 911 was called. By the time Kiera arrived to the Hospital, the seizure had stoped. The Doctors checked all of her vitals/levels and everything checked out just fine. Kiera did not have an elevated white count either, so there was no infection detected.

The thing is that when the seizure finally stoped, she started to vocalize like nothing ever happened. Some of you know that we are going to decrease seizure medications, we will start this in the beginning of the New Year, well because she had this prolonged seizure we will have to now wait for some more time to pass without any other issues.
Kiera was also put on a medication that lowers the ratio of the Keto diet so with that medication, her diet ratio went from 2:5 to 1:9, with blood ketone levels reading at around 3, Kiera should have a reading at about 5.
So here's my concern, Kiera's Epileptologist is a bit reluctant to decrease Kiera's seizure medications. The Epileptologist is also new to Kiera and new to this population.
She has worked with people that are developing normally who have Epilepsy, so to her ANY seizure is unacceptable. She has gotten better with us over the last few months, and is starting to see our views on this as far as what we feel is good control and what is unacceptable seizure control in regards to Kiera.
We feel that Kiera will seize on or off medications, she has been on 19 seizure medications throughout her life and only 1, can we say helped a bit. The diet, on the other hand does work for Kiera.
So today we will need to talk with the dietitian about increasing the ratio of the diet, all conversations need to go through the Epi first before making any changes (as it should be) but the Dietitian has been administering the diet for 25+ years. I feel that if you are on the diet it's because you have gone through most medications and that maybe the seizures are intractable (drug resistant) so I feel that the dietitian has more experience with this population.
I also understand the Epi's view, she said it herself, she asked us what other med do we want to try after Kiera comes off the first med that we tirate down? we said "Nothing else" she was a bit surprised, well maybe more concerned. We said that if things get touchy we would adjust the diet.
If Kiera can have a 36 minute seizure with all of her medications at the highest they can be (she is on 3 sz meds) that tells me that the medications don't work for Kiera. I even told her that when Kiera was very young she was taken off her medications and the Doctors report stated that she was seizing just the same. What a sad day it is today, what is happening to my girl? well the good thing is the prolonged seizure did not seem to faze her.
She is one tough girl!

UPDATE: 1/13/09
Since the 36 minute seizure, Kiera has not had one more seizure!
We did increase the Diet ratio, but just 4 days ago. now I am wondering if we should have just left it alone? It is always a guessing game isn't it?

Christmas is coming!

2008-12-23T14:03:00.007-06:00

Another month has almost come and gone.

Kiera has been doing very well health wise, we have been so happy about that.

Changing her diet to the RCF has made a big difference in her seizure control, but just over the last few days the seizures are creeping in a bit.

We have made a plan with Kiera's Epileptologist to start to decrease her Topamax in the beginning of the new year. We will keep our fingers crossed in hopes that the seizures do not invade her life for the worst.

The Doctor down at the Baylor College of Medicine has finished her research study that involved Kiera and 2 other young girls that have CDKL5. We just signed the consent form and hope to get to get our hands on the study very soon!

I am looking forward to talking with the other 2 families that were in this study also.

They are quite a bit younger than Kiera but I know how much it has helped me to be able to connect with all the other families through-out the world that are also dealing with CDKL5.

We had a Christmas gathering at Kiera's home last night. It was very nice, the house was full of Friends. Kiera was in a great mood even though she had a 18 minute seizure just the night before!

She wanted her voice heard and it was!

I love to see the attitude, boy does that put a smile on my face!!

Merry Christmas all, and have a very happy and safe New Year!!

Things are quiet again!

2008-11-01T16:49:00.003-05:00

Over the last few weeks Kiera has been dong very well!
I think that she is over her tummy thing and the lung infection. Her seizures have been very short, just seconds long. The other day, however she did have a 9 min 55 sec seizure and she gets a rescue med after 10 minutes so that was close!

But over all she is getting back to her loud vocal self!
She went to a Halloween dance and was a jail bird!

Kiera also changed her diet to the RCF from the keto-cal and again it has made a world of difference, the diet REALLY does work for her, we are so happy that something does.
I am excited to start to wean some of her seizure medications and see what all she will be able to do again. She is the max with all 3 seizure medications that her Epileptologist is surprised that Kiera does not just sleep all day!

I need to get some more pictures of Kiera, her hair is getting long and her skin is looking good, she is starting to have a more mature looking face.

right now things are quiet and we are enjoying that for the moment!

Last week

2008-10-16T22:07:00.003-05:00

Kiera had a short bout with pnuemonia again, she stayed in the hospital for 1 night, that is our record, one night only! She has an reaction from the first IV antibotic, it's called moxifloxiciln. she has had a reaction in the past from this antibiotic, but at the time I was not in the room, I took a dinner break and my sweet husband could not remember what iv antibiotic she had trouble with.
When I came back after dinner, the Doctor said that they just gave her an IV medication for the pnuemonia. I asked what it was, he told me and I saif that Kiera has had an allergic reaction to this drugs one time last fall.
He thought that since the medication was already in her system that the reaction that she had
last fall was not from this drug because Kiera was showing NO signs of any kind of reaction. She would have shown signs earlier.
The Doctor sat in the room with us as we were still talking and what would you know... Kiera started getting red in the face, then her lips became more red. I look at her and said, "Well now she is having an reaction" the Doctor left the room to get some Benidril.
Kiera cleared up well from the pnuemoinia, but the antibiotics gave her such a rash. Then it turned into a yeast infection.
So back to the Doctors for another medication to clear that up.

Kiera just doesn't seem to catch a break!

2008-10-13T10:21:00.002-05:00

HAPPY 22ND BIRTHDAY SWEETY GIRL!!!!!
LOVE MOM!

May 15th 2008, The Day The Diagnoses Became Real!

2008-10-11T16:53:00.014-05:00

After many years of searching for an answer to why Kiera had to live this life with all the heartbreaks and tears, we finally got our answer.
It was late March early April, Kiera's Geneticist sent a blood sample down to Baylor College of Medicine.
Even after all the other test that Kiera has had in the past that came back normal, we were still anxious. It was going to take about 6 weeks before the test results would come back.
At the time, I did not know that the STK9 gene was the same gene as the CDKL-5, If I would have known that, I would have not expected any answers with this test. Reason being is that Kiera had a test ran on the STK9 gene in 2005 to see if there were any mutations. The test came back with NO mutations. But the little I knew about geneticist was probably a good thing!

It was late April when I received a call from Kiera's genetics office. The nurse on the other line said to me " We found something, it's a deletion on the short arm of the X chromosome, we need you and your husband to be tested to see if this is hereditary, it will be at no cost to you. When do you want to be tested?" I was totally stunned, You found a mutation??? We have an answer? What did you just say?? Are you sure about this??
You could not imagine how I was feeling, 21 years without a diagnosis, this was insane to most people, why don't you know what it is? I was starting to feel that people were thinking that I was hiding Kiera's true diagnoses. To be honest, people that don't really know me DO think that way, how could you NOT know what was wrong with your daughter. I have close friends that care enough to share this with others and the response is just that.
My husband and I scheduled to be tested, this was so surreal, I was in a state of a fog, and in the back of my mind I just had this terrible feeling that this original test was a tainted test. I was prepared to be let down once again. I think that I can equate this to the parents that have been trying to get pregnant, and every month you hope that you are truly expecting, then the test shows that you are not. This is exactly how we were feeling.
My husband and I went to be tested, about a week later we had our appointment
The Doctor came in and said that we've found the cause, it is CDKL-5. We were frozen in time. What, we have an answer? and indeed we did. I could have hugged our Doctor! She gave us the little information she had on this disorder and she knew that I was going to go straight home and start my research. She also said that she wants to do a case study on Kiera's case, we were more than thrilled. What ever it is going to take to get more information out there, the more likely that other families with younger children that are affected in the same way would then have a place to turn.
We were also told that our results came back that neither one of us carry the gene, this was a de-novo ( first time mutation) in Kiera.
This was great news, we have an older son who just got married. He has always wondered about Kiera and her disabilities. He loves his sister, he has always been by her side when things were rough, he really cares about her well benign. Now we can tell him that this is not something that he has to worry about with any of his future children!

After getting this diagnoses, I have found a support group, it is very small yet, 53 families world wide. But reading the other stories, Kiera is a classic child with this disorder, we finally found other families that have girls that are going through the exact same things that Kiera did as a younger girl. This is such a great thing to finally get this diagnoses, we can now breath and we can now plan for the rest of Kiera's life. Some things will change with this new diagnoses now and as we learn more about this disorder.

Thank you so much Dr. S. Davenport
Much love, Kiera and her parents.

Pictures of Kiera

2008-10-04T16:39:00.003-05:00

Flickr: Your Photostream

20 through 21 years of age

2008-10-04T14:28:00.027-05:00

These years were probably more of a rollercoaster ride than any other of the years before. That might be because the events that had happened will stick in my mind for a VERY long time.

Right before Kiera was to turn 20, she went through a period of basically being seizure free, it was a total of 9 months. Kiera did not have one seizure, at least not any that were visible to the eye. We thought, WOW, we finally have figured out her diet to a "T" and it's doing what it's suppose to be doing, controlling Kiera's seizures!

We were starting to see more personality and she seemed to be very happy, even her health through theses nine months was great!

In August of 2007, the honeymoon was over. Kiera's seizures were increasing again. We started to use resucue medications on a daily bases and we were using them more than one time per day.

After talking with her Epileptologist we came up with a plan to attempt to slow the seizure activity. We were going to titrate up on Ativan then slowly titrate back down. This didn't help, it actually had the opposite affect, Kiera started to have what we call, re-bound seizures. So we tried another medication called Tranxene in the same way as the Ativan. This too did not help, we then started to see that Kiera's heart rate was increasing greatly, ranging from 120- 160. Kiera's normal range is between 80-100.

Then we added another seizure medication called Felbamate.

Felbamate is a seizure medication that was pulled from the market awhile back because of the high risk of Aplastic anemia and kidney failure. The FDA has placed a 'black box warning' on this drug

It was brought back on the market as a last resort drug. It does work for some people and it might be the only drug that works for some. This was our second time on Felbamate, the first time it did nothing for Kiera's seizures, but now that she is older her Epileptologist wanted to try it again. We believe this medication played a big part in Kiera's declining health.

Kiera got very sick, she was having issues with very low blood pressure readings, tachycardia, her O2 was also dropping and with each day she was becoming less and less responsive. All of theses things were going on along with a huge increase of seizure activity.

Kiera's lungs begain to sound crackly, and she started to have many bouts of emisis (vomiting) We put a call into her regular Doctor and he said to call 911.

When we got to the hospital, Kiera had 2 more seizures that required more rescue medication. After about 1 hour she had another emisis and then started to crash. Her oxygen would not go above 77% even while on 10 liters of O2 and her blood pressure was around 60/40.

The hospital had called in their crash team and took Kiera to the ICU.

While in the ICU, she had another seizure. The ER Doctors just could not get her O2 to come up so they had to intabate.

I was there without my husband, it happened to be a day where he had to be at work because they were short staffed.

This was the worst day of my life, I was alone and I thought that I was about to loose my girl.

I do have to say that the staff from the home where Kiera lives were there, but when you are in a situation such as this, you need your family around you.

Kiera had a series of x-rays and many blood tests ran. The x-ray showed some pneumonia, the Doctors were thinking that this was the cause of what was going on. But the next day, they took another x-ray and ruled out pneumonia. It probably looked like Pneumonia because she did aspirate a few times the day before while seizureing. Now we had no answers as to what was happening to Kiera.

Since she was so unresponsive and not moving, the Epileptologist wanted to do a VEEG, this is a EEG with video, he thought that maybe she was in status (continuous seizure activity) and wanted to rule that out. The VEEG ran for 1 day, and did not show that she was in status.

The next day they checked to see if she possibly had a stroke, that too came back fine. There was one Doctor that kept saying to us that 'sometimes you just have to let go, you have to think about 'are we doing this for Kiera or you, the parents?' I was upset about the comments, but I also know that the Doctors see so much and they don't want to have anyone suffer, but this is my daughter, she is a fighter, always has been and I could not see this ending any other way but good, she will get through this.

While in the ICU, they placed a pic line in Kiera's arm, This could be used to give meds and to draw blood, this was a godsend, the last thing she needed was to poked everytime they needed a blood test to be ran. Kiera is a very hard poke, her vains have been so much through her life so this was a wonderfull thing.

Kiera remained on the ventilator for 13 days, she was still so unresponsive to her environment, she didn't even respond to my voice or touch. She was not fighting the vent either, which the Doctors were suprised and discouraged about. She was so sick that she did not have one seizure during this time.

She gained 20LBS in the 13 days, they said it was because of the fluid intake along with the fact that she was not moving at all. She was so puffy, her fingers, her eye lids her ankels, so so puffy.

She also needed to have shots to prevent blood clots and those went into her stomach.

Her potassium levels were also dropping down to dangerous levels, she then needed to start taking a potassium supplement, Kiera was on so many medications I could not see how anyone could function with so much medication in their system.

The Doctors kept testing her to see if they could pull the vent, but Kiera kept failing the test. Finally on the 13th day, she passed the test. She was showing the right numbers on the vent machine, so they asked me to step out of the room while they pulled it. I did not want to go, but they said that it can be quite traumatic if things don't go well and they might have to intabate again. I stood right outside her door listening to everything that was happening in Kiera's room.

If she did not start to breath on her own, they would have to intabate again and then we were then going to be faced with the decision to place a tracheotomy. We were told that there is a time marker for staying on a ventilator, and that magical number is 14 days, after that there is a higher risk of not being able to come off, and there would be vocal cord dammage among other problems. We love to hear Kiera 'sing' so having a trachea tube placed, she would have lost that ability to vocalize, we were all hoping that she would come off but he days were ticking by.

The Doctors extabated Kiera, she was breathing on her own! She still needed O2 to help her along the way, but Kiera was breathing on her own!

After 2 days of being extabated, Kiera was transported to Step Down, that is a floor for people that were in IUC and are ready to move to another floor but still need closer moitoring that they would not get on a regular floor.

While in Step Down, Kiera still remained very unresponcive. We just could not figure this out. When she would lay on her back her O2 would start to drop. A ENT Doctor came in and did a test to see why this was happening. We were afraid that Kiera did end up with vocal cord damage, and that she was not swollowing correctly.

What the ENT found was that Kiera's muscels in her toungue were very weak from being on the ventilator for so long, so that when she was on her back, her toungue would relax and kind of fall to the back of the throught. This was blocking the air way some, so to bring her O2 down.

After the puffyness of all the fluid intake had disappeared, Kiera had lost alot of mucsle mass, her legs were so thin, she then weighed around 93 LBS. She still continued to have tachycardia, low blood pressure, and vomiting. Now she was having issues with a temperature. We were definitely not in the clear yet.

Because of the constant tachycardia, Kiera had a EKG and ECG done, thankfully that was normal, so then it had to be the medications that she was on.

Everytime we would bring that to the Doctors attention it was dismised, but what they did say is that Tranxene can cause high heart rates, but it is very unlikely that that is Kiera's issue, the possibility of that being the cause was a 1% chance, I thought "Welcome to the 1% kido" by this time we were getting fairly frusterated, there has been no clear answers as to what was causing all of this so how could we avoid this from happening again if we never find out why it hapened in the first place.

The days went on, Kiera was a sleeping beauty all day, and all night. We finally had the tranxene stoped, then had many conversations with her Epileptologist about the Felbamate. At this point Kiera was on 4 seizure medications. I finaly said that Kiera was going to have seizures requardless of how many medications she was on, I don't think that this is a good quality of life for her what so ever, I would rather take a seizure any day than to see her like this. We want her off the Felbamate.

He listened to my concerns and agreed to take her off.

As the days went by in the hospital Kiera slowly started to wake up, she would be awake for a very short amount of time, 10 to 20 minutes, then sleep for hours after.

The strange thing was is that Kiera is a VERY vocal child, but we did not hear a peep out of her for a few months (while we were in the hospital and even for a few months after, while at home.)

To this day we still do not know what caused Kiera to have had such a rough time, we spent a total of 63 days in the hospital and can not even say why. Kiera still has very low blood pressure, but in normal limits, but the high heart rate did resolve itself eventually.

Kiera has since spent two more times in the hospital after this, but for much minor illnesses and for a far less amount of time hospitalized.

16 through 19 years of age

2008-10-04T13:16:00.016-05:00

These years were very trying on Kiera as well as us, as her parents. Seizure medications were just not the answer, we were on all the medications out there under the sun and even tried some that she was on before. I can count 19 seizure medications so far that have really not helped slow her seizures, forget about trying to stop them!
Her Epileptologist wanted to do a surgery called the Corpus Colostomy surgery. Basically it is 'Split Brain' surgery. This surgery sounded very promising for Kiera because her seizures now are classified as Complex Partial secondary to generalized~ meaning that her seizures start out on one side of her brain then quickly generalize to the whole brain, which then is described as a Generalized Tonic Clonic (old term: Grand Mall)
This surgery consist of 2 separate surgeries, the first is done in the frontal lobe, the Doctors go in and severe the nerves from one side of the brain from the other.
The second half of this surgery is to severe the last 2/3rds of the nerves that go down the back of the head, this is done so that the seizures no longer can generalize.
We were terrified as Kiera's parents... Brain Surgery... How can we put her through this?
Kiera did GREAT, she came out of this with minimal pain, she was actually laughing the 2nd time around, she's such a trooper!
We were told that the success with this surgery is determined by a 80% reduction of seizures. We were so hopeful, but unfortunately Kiera started to seize on day 5 after the surgery. The Epileptologist said that her brain has really learned to seize over the years, so a new pathway has been rebuilt, it is now under the corpus, an area that we can not reach.
Kiera had developed a sever Red Dye allergy prior (at 8 years old) so this limited the medications she could be on for seizures. We were at the point of no return so the only way to go was to wait for new medications to come down the pike.
And a new med did, it is called Lyrica. It was the ONLY med that really did ANYTHING throughout all these years!
All medications before this did nothing, or at the least helped for a very short while then just quit. We really had no faith in medications for our dear daughter anymore.
But Lyrica did help, and we would like to think that it still is helping to keep the seizures down.
After Kiera had the CC surgery she did start to have Generalized seizures again, they were increasing both in severity and duration so we felt that we needed to try something new (or at least, again)
We made an appointment with her Epileptologist and said that we wanted to try the keto diet again, he was very reluctant, Kiera's health was already not good. We were at our last hope, but he listened to us and agreed that we had nothing to lose so from there we had a start date for the diet.
In 2005, Kiera's geneticist sent a blood sample down to California, at the Clinical Molecular Diagnostic Laboratory. They were testing for a mutation in the STK9 gene, this is the EXACT gene as the CDKL-5, same gene, different name. (no wonder we are all so confused about genetics!)
They were looking for any mutations on this gene, the results came back with 'No DNA sequence alteration detected' the problem was that genetic testing was not advanced enough at that time to know how to test for this condition. The CDKL-5 mutation was discovered just a year prior in the UK. Kiera was tested for any deletions on the STK9 (CDKL-5) gene before the test was available in the US, that would have shown this mutation. So close, but still too far away.

Behavoirs I stoped, The long crying spells, chewing on my right pointer finger

Surgeries, Corpus Colosotomy

Started the ketogenetic diet for the 2nd time

Genetic test done to find a mutation on the STK9 gene (same as the CDKL-5 gene) results negitive.

11 through 15 years of age

2008-10-04T12:57:00.012-05:00

These were the years that Kiera really started to have more health is uses. She was in and out of the hospital so many times because of aspiration pneumonia. We then, for the first time in her life needed to get a Oxygen tank, an Oximeter, Pummel machine, and a Suction machine. This was very hard to see our daughter needing such things.
At one point she was diagnosed with stage 3 esophageal ulcer. This maybe have explained her reason for not wanting to eat. The ulcer was a result of sever reflux. she was put on a bout of antibiotics and the ulcer was gone after about 3 weeks, but continues to take medications for reflux.
At this point her care was much more than we could do at home. She was not sleeping, she had a very sporadic sleep pattern, awake for 48 hours asleep for 72 hours. There was a need for 24-7 awake care. She had just a hospital bed at that time, that had proved to not be enough. We needed a Enclosed bed system so she could not wriggle herself out of her bed (not as though she was trying to get out, she would just get herself sideways in her bed and come right out from under the bed rails!) We then had bought a Vail bed.
We made the hard decision to place her in foster care. The home that she was going to was wonderful, the mom was a nurse and had 2 very young children, what more could we ask for. We still brought Kiera home every other weekend and my husband and I had our jobs; he took care of all the many medications that she was on, which was a full time job, and I took care of all the bathing, diapering and feedings.
We had started to see that her left foot was starting to turn in more, it got to the point that it was almost upside down, so this brought us to her 4th surgery. She had the tendons released and had a pin placed in her heel. The hardware still remains in her foot to this day. Kiera was about 12 years old when she broke her femur bone in her left leg. It was such a freak thing. The staff was unbuckling her feet from the feet straps of her wheelchair, Kiera had the tendency to spring both legs up as soon as they were unstrapped, this action unfortunately caused a fracture in her femur. We were all very surprised when the x-ray came back with such a break, I thought that it was her hip that was hurting her. The strange thing was that Kiera was not crying, she was guarding, but not crying. I had to convince the ER Doctor to take an X-ray because he did not feel that she was in pain. He was also very surprised as to what he saw. This is when the diagnose of severe osteoporosis pushed it's way into our lives.
Kiera was about 12 years old when the gene was found for Rett syndrome (MeCp2) We were thrilled, Kiera did have a clinical diagnose of Retts back when she was 7, but all the criteria did not fit. We had the test done and had to wait about 2 months for the results.
The test came back negative, she did not carry the Rett's gene.
Kiera's health continued to decline with no answers as to why, we were then preparing for the worst, even her Epileptologist was too.

Skills I gained, To scoot out of my wheelchair with a verbal direction (scoot)
Skills I lost, To roll over, I lost the ability to communicate, and to taylor sit with minimal assistence.
Diagnosis, Stage 3 esophagitis (ulcer), Severe Osteoporosis, (broken femur bone)
Surgeries, Left foot tendon release with pins placed in heal
Genetics tests, MeCp2 gene tested for Rett syndrome (results, negative)

7 through 10 years old

2008-10-03T18:18:00.013-05:00

Boy, this is when things started to really change. Kiera (my baby!) was a big eater up until now, although she could not use her hands for much more than communicating her needs via texture board as to what she wanted to eat and drink, then it seemed like all the sudden she just would not want to eat a thing.
We tried all of her favorite foods (everything had to be blended well) she wanted nothing to do with it.
I made an appointment with a feeding clinic so they could do an evaluation. They did a swallow study, everything came back just fine, they did a scope and again found nothing. They came back to me with this just being a behavior issue and that there is no reason why she can not eat orally! I thought that was crazy but took their behavior plan and Kiera home to give it a shot.
So imagine, at the age of 7 this is how our meals went; I would take a small baby spoon (we were using a bigger spoon prior) and 'tell her that she needs to take at least 10 bites' then with every bite count out loud so she knows where we are. I felt like a fool doing this, my daughter does not understand the concept of counting, and if she did not want to eat ,there was no way to get a spoon in her mouth!
So we spent a few more years trying different methods, giving her Ensure to keep her weight up, but to no avail. She lost so much wt that it became apparent that we needed to do more. We first tried to use a NG feeding tube, this a tube that goes in her nose and is threaded into her stomach. This was the worst thing ever, she hated this so much and she looked very scared every time I attempted. I then refused to put her and me through this 3-4 times per day. Then she received a G feeding tube.
We started out doing bolus feedings, well that was not going well at all. She was in so much pain after a feeding and she would end up throwing it up anyway. So then we had a J threaded through the G. Kiera then would tolerate her feedings better but she was still throwing up. Many times the J tube would get pulled out (not by Kiera, she never used her hands) which then brought us to the ER every time to get it re-threaded.
Well, we had enough of taking trips to the ER, so we had the doctors place the J tube via surgery.

Even after placing the Jejunostomy tube, Kiera was still having lots of issues with emesis, so it was decided by her Doctor that she needed a surgery called Roux-en-Y, it takes the lower intestines and brings it to the surface of the stomach wall so that there is access to place a mickey button. Her feeding then will bypass her stomach all together. This did not stop the vomiting/retching, but it did help to gain the weight that she needed to keep her healthy.

At the age of 10, Kiera was placed on the Keto diet. By then we had gone through so many seizure medications and nothing was helping at all. We had to give this a shot.
The Keto diet showed promise right away, we were thrilled. Nothing has helped her seizures as much as the diet, finally she could get through a day or two without any seizures!
A few months later Kiera ended up getting very sick, the ER Doctor refused to work with us unless we took Kiera off the diet. We were young and desperate, so we took her off the diet.
After that it was very hard to convince her Doctors to put her back on the diet. Back then the thought was that the diet did not work well after about 10 years old. So we were back to trying new and some old medications again.
Please follow our story as I blog more, Kiera is now 21 years old so I have a ton more to write, thank you for reading this so far, Kiera's Mom.

Skills I had gained, taylor sit with minimal support for 30 seconds to 1 1/2
Skills I had lost, Eating orally.
Diet, Keto diet for 1st time
Diagnoses, Severe red dye allergy,
Surgeries, Gastrostomy and Jejunostomy mickey buttons for feeding
Roux-en-Y surgery

2nd through 6th years of age

2008-10-03T17:52:00.010-05:00

At the time, we thought these were the hardest years, we had no idea how this would all play out as the years when by.

We were still searching for a diagnoses and we always seemed to run into to a brick wall at every turn. Every test came back as normal except her EEG. We also took a trip to the Mayo Clinic and still the Doctors had no answers for us.
Back then there was no such thing as the Internet so we did not have information at our fingertips like we do now.
The crying and laughing spells continued. Then she started having lung issues and tons of issues with vomiting. She was a huge eater, she was always hungry and had to have a straw cup at her side at all times, that was about the only thing that seemed to calm her. (besides being just left alone)
Kiera started to chew on her pointer finger, it was constantly in her mouth. We tried different things to protect her finger but she was determined to keep that finger in her mouth. When she was upset the chewing was more intense.
At 2 1/2 years old she was enrolled in a preschool program that was wonderful, she had OT, PT, Vision, and speech. We worked very hard on getting her hands down and using them for functional things but she was so tacitly defensive that it was so hard on her.
We also worked hard on sitting independently, potty training, communication, vision stimulation. She did gain skills through all this work. She learned to communicate by using a homemade board that had 9 different textures. All the textures meant something to her such as "Eat" Drink" "All Done" "Clean dry Pants" "Go rest" etc...
At about 5 years of age she was diagnosed with CVI-Blindness, This is a condition that causes you be blind in new situations, but eye exams show healthy 20/20 eyes. The pathway from the eyes to the brain does not make the connection. After a child 'learns' what they are seeing, that item then becomes more clear to them. CVI children see the familiar and are blind in new situations.

This diagnosis helped us understand why Kiera would just cry the minute we left our home, she could not see anything. We always thought that she just had hypersensitive hearing and even had ear molds made for her to drowned out some of the noise. In reality it was her vision.
She was 5 years old when she had her very first surgery, both hips were dislocated so she needed bilateral hip surgery to pin them back in place. This was a very hard surgery, she had lots of pain with it. The Doctors thought that they got a good hold on her hips so the did not do a cast, well that proved to be the wrong thing to do with a child that has a seizure disorder!
We were at home recovering and she had a very hard seizure, brought her knees right up to her chest and the sweat just started to pore. This was a status seizure to boot and we had no way to transport her, so 911 was called.
She healed fine from the surgery, she also had to go through PT therapy after which was not fun, for either one of us.
So this brings us to about the age of 7...
Skills I gained, Communication! Rolled over, learned to drink from a straw, learned to punch my arm into my sleeve with a verbal direction (Punch), and was successful with schedule potty training!
Diagnoses, CVI-blindness , reflux
Surgeries, Bilateral vargus derotational osteotomies (hip surgery)

The first year, this is where it all began

2008-10-03T17:39:00.008-05:00

http://www.cdkl5.com/

We were so excited to be expecting our second baby, everything went well through-out my pregnancy, I did not even have morning sickness.
I do remember one day where I didn't feel the baby move. I came home from work and called my Doctor right away. They told me to lay on my side and if the baby moves 9-10 times in an hour, the baby is fine.
I did this, and low and behold the baby moved 9 times.
The delivery of our first baby was quiet long (24hrs) so I was expecting a long delivery this time as well.
On October 13 1986, we delivered a gorgeous baby girl, 7LBS 10Oz. this time the delivery was only 10 hours long. I had both babies in the Hospital by mid-wives with no medication what so ever, both babies were full term.
Everything went well in the hospital the first night. The next morning I noticed that my baby girl had what looked like little freckles all over her face. I had asked the nurse about it and she told me that with babies that come through the canal fast can have bruises like this, but they will go away.
The 2nd day, I was resting in my room with my baby by my side in the little crib. I woke to her breathing hard and her eyes were very wide. I sat up in my bed and reached for the call button, but the time it took to reach for the button, she had stopped the heavy breathing. I took her out of her crib and thought to myself "Your just being a paranoid mom, that was not a seizure" I did not say anything to the Doctors or the nurse about the episode.
The little bruises were gone with-in a day or two. Then we noticed that she was becoming more Jaundice, we did a day of light therapy while in the hospital and then took the lights home with us. The jaundice did resolve itself with-in about a week.
Kiera did not take to the bottle well, she had a very pour suck. It took a lot of energy from her to get a feeding. She was 3 weeks old when we had some friends over, my friend was feeding my baby her bottle, she thought that my baby was starting to choke. I took my baby and right away knew that she was not choking, she was having a seizure.
She had three more right after another than night. They looked like a startle reaction that babies do, arms out, fingers spread, legs straight, and holding her breath.
We called the Doctor right away, they said to bring in the next morning ( I know, looking back we should have just brought her in the ER that night, but the reality is, even doing that would not have changed the outcome of Kiera's path in life)
The next morning we took her in, they decided to keep her for a few days to run some test. She had an MRI which came back normal, she had a EEG that showed some seizure activity. Then they tried to do a spinal tap but they were unsuccessful.
The outcome from these test showed that she had infantile Spasms. They told me that she would most likely grow out of them.
They sent us home with Phenobarbital.
As the days and weeks went on her seizures became much more severe and changed from IS (Infantile Spasm) to Myoclonic seizures. I remember sitting on the floor with her feeling so helpless as she had seizure after seizure, to the tune of about 100 per day.
We were then put on an add on drug called Dilantin, another seizure medication. We were still not seeing any change for the better with adding a new drug, seizures continued to change in their severity and duration.
At around 6-8 months of age she was diagnosed with hypotonia (low muscle tone through-out her whole body) so we started going to a day program for such issues.
She was a very quiet baby for her first year, then the long spells of crying began. This behavior went on until she was about 16 years old, and along the way was laughing spells too.
It was very apparent that this was not just a seizure disorder that she would grow simply grow out of.

Skills I've gained, Hold my head up while prone ( for about 10sec)
Diagnoses, Infantile spasms, myoclonic seizures low muscle tone (hypotonia), Jaundice, & a pore suck .