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.
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