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Glyn's Gift

The beginnings of CDKL5
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Welcome Letters

Shawn's Letter
My name is Shawn, I am a mom to two wonderful adult children, I have been married to my husband, Mark for 26 years where we reside in Minnesota, USA.

Our second child, Kiera was born in Oct 1986. She was a beautiful baby girl with dark curly hair and big brown eyes. She was just beautiful and looked healthy in every way! While in the hospital on her 2nd day of life, Kiera had her first seizure. At that time of her birth I was working in the school district in special education, so seeing this behavior my first thought was that it was a seizure, but on the other hand, I felt like I was being a bit paranoid so I did not say anything to the Doctors. After three weeks at home, Kiera had two more episodes while taking her bottle and then it was very clear to me that this was seizure activity. She was then diagnosed with Infantile Spasms and from there we were introduced to the field of Neurology and were told that Kiera would most likely grow out of this type of Epilepsy and live a normal healthy life. Kiera was placed on her first epilepsy medication, and the search for the cause of our daughter’s seizure disorder began.

In the first year of Kiera's life, it became apparent that there was more going on with our beautiful daughter than only seizures. We started to see developmental issues such as hypotonia, little to no eye contact, poor suck and grasp, and her seizures progressed to Myoclonics.

In 1987 metabolic screens were done with no results found and later a 24 hour dolichol was done to rule out ceroid lipofuscinosis, again nothing was found. Over the years there were many tests done without any answers. I started to feel that we were never going to find out what was happening to our sweet girl.

In 2001, Kiera was tested for a mutation on the MECP2 gene (Rett syndrome) two years prior we already had a clinical diagnosis of Rett syndrome, but yet Kiera still did not fit all the criteria. When the gene was discovered for this syndrome we felt like this might be it and maybe we will have our answer, but the results came back negative.

As the years progressed, so did genetics. In 2005 our Geneticist sent a few blood samples out to test for any mutations on the STK9 gene. I remember thinking and hoping that maybe we will find something this time, but yet again the results were normal. Little did I know, this is the same gene as the CDKL5, but with the advancements in technology, there is more in-depth testing available today.

I dug into the Internet to try to find something that sounded like it fit with what we were seeing. I went to many genetics appointment with a folder full of different syndromes for our Doctor to consider. (she must have thought I was nuts!)

In April of 2008, after many years of searching for an answer and feeling let down with every test that came back with no results, we finally found our answer! The day we received our phone call, I think I was in shock as the voice on the other end said “We found something...” I remember thinking this was not possible, the test must have been tainted, this just could not be...we finally found something? I was in disbelief. “We found something, it's a deletion on the short arm of the X chromosome on the CDKL5 gene” You could not imagine how I was feeling. Twenty-one years without a diagnosis seemed crazy and hearing that we have found the cause, well, was a bittersweet feeling to say the least.

After reading the little information there was available on CDKL5 mutations/deletions, I found a support group. When I joined this group, there were only 32 families identified, and now that number has tripled in 2 short years. I have been on other support groups, but finding these amazing families that are going through much of what we do each day, was a godsend.

I know that for us, finding the cause for all of Kiera's disabilities was a wonderful thing, but we have searched for years and years for the answer. Now that CDKL5 is starting to be known by more of the medical field, families with younger children are being identified sooner. There is still a lot of research that needs to be done, but I have faith that one day there will be a cure.

Hearing a diagnosis of CDKL5 can feel very overwhelming and heartbreaking, It can take your life in directions that you never thought you would travel, but please don't feel alone, there are a few that have already taken this road to be there to smooth your path. Take one day at a time and try not to let the diagnosis devour you and your family. Take every accomplishment and celebrate it loudly.

Our daughter, Kiera has brought our life down many paths, we have learned so much from her. We never imagined that this precious baby would be such a powerful change in our lives. She has brought patience, compassion and understanding to my family and to those that are close to us. Some days are more trying than others but we always seem to get through. As Kiera has grown and got older there has been more challenges but she has proven time and time again that she is a very strong girl, or should I say, young woman. She amazes me every day.

Kiera and her brother have a special bond. They have always been together as young children and into their teenage years. Every time Kiera's brother steps into the room, she knows it right away. He is the only one that she will visually track and she loves his voice. He would do anything for her.

We love to hear my daughter’s contagious laughter and we get great joy just seeing her smile. Kiera has a lot of attitude and wants her voice to be heard. She steals the heart of everyone that enters her life. She certainly is the light of our lives!


Shawn


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