Thursday, October 16, 2008
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!
Monday, October 13, 2008
Saturday, October 11, 2008
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.
Saturday, October 4, 2008
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.
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.
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)
Friday, October 3, 2008
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
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.
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)
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 .