When Mason was about a year old our pediatrician sent us to see a geneticist at Walter Reed Army Medical Center. We had the long interview, the physical examination, and a chromosome test. At the time, 2007, the genetic testing wasn't as sensitive as it is now. In 2007 there were no genetic syndromes found that could explain Mason's medical problems.
In 2014 after Lila, my youngest child, was also found to have the laryngeal cleft that Mason had, the ENT doctor at John's Hopkins referred us to a Genetics once again and explained there was a newer, more sensitive test and that Genetics was very different now than when Mason was a baby.
You see, as I understand it, for years doctors could only count how many Chromosomes a person had because the sensitivity of the testing and the cost to perform more in depth testing. They could only count the recipe books so to speak. However, once testing became more sensitive and more cost effective the doctors could count the actual genes and DNA in the body. They could count the lines and words inside all those recipe books.
We took Mason in January to see the Geneticist at Johns Hopkins hospital in Baltimore, MD. We again went through the long family history, explaining every medical or interesting fact about members for both sides of Mason's family. We started with grandparents and ended with Mason's first cousins. The genetics team decided that Mason should have blood drawn and the in depth genetic testing done. They noted that although there wasn't an outright trend on Mason's dad's side of the family, there were enough strange medical issues to have him tested. We also noted that Mason's cousin on his dad's side had a 16p13.11 deletion. We didn't know what that meant, but mentioned it to them anyway.
After four weeks of waiting I received a call from the genetics councilor. Mason did in fact have 16lp13.11 micro deletion like his cousin. I was shocked because their symptoms were so very different. I was also scared and devastated to learn that the little boy who I wanted to grow out of all these problems, would most likely not ever fully grow out of them at all. He was missing parts of his genes!!!!
I cried for many days as I tried to come to terms that my little boy, the boy I put so much effort into making healthy, had a deficiency that I could NEVER cure, only treat. I know many parents have gone through this same process, with even more devastating news about the genetic issues their child carried, and I took hope in the support I knew I could find. However, it was my little boy that didn't have all the DNA he needed. It became scary.
We were told at an appointment soon after that first phone call more about the syndrome. There are such a wide array of symptoms and issues that can be associated with this micro deletion. Mason did fall into some of the more prominent issues, but not all. There was story after story about different symptoms and problems. It became hard to understand what to look forward to or what was the norm. But that is the interesting thing about genetics, all humans are so varied even with genetic abnormalities.
We were told my ex-husband also had this same micro deletion. So much of my failed marriage and my ex-husbands struggles to function successfully in life and relationships became very clear. This comforted me but also scared me of what is in store for my Mason, especially with his schooling and social skills. The geneticist reminded me there wasn't the focus on early intervention and special education when Mason's dad was in school and that we have already have a good head start with any problems that may come his way. I took courage in that. I also took courage that there are things we can look out for preemptively. We can get his heart checked just in case something was overlooked. We know that his struggles in school are based on this deletion and not a lack of us doing everything possible. I know that his feeding difficulties were not solely because he had been NPO for so long or the cleft, but because almost all cases have shown feeding difficulties. Many things came into focus.
Now the next scary step is to get all my children tested for 16p13.11 micro deletion. They all have a 50% chance of missing these important development genes. I currently have that in the works but it takes a while to get insurance approval. In the meantime I am researching and trying to remain as calm as possible. I am looking at the amazing human Mason is, that he has survived very difficult issues at a very young age. He is a fighter that has an indomitable spirit. He is just the person to succeed and overcome despite the fact he is missing parts of his genes. He is amazing!!!!
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