What a crazy and amazing 2015! I was just looking back through Facebook posts and images over the last year and was surprised to remember what a roller coaster ride it was. From little man's surgery the second week in January....to our trip to the Children's Hospital of Philadelphia in April....seeing new doctors at the Epilepsy center in MN throughout the year....starting Jameson's bucket list and watching him enjoy all the adventures we've been blessed to take him on....and to top the year off we finally received the results of his whole exome sequencing!
As most of you know, Jameson has been clinically diagnosed with Cornelia deLange Syndrome since he was 9 months old. It was the only diagnosis that his doctors in the NICU suspected when he was born and they made this assumption based on his features and medical issues. (Ex: long eyelashes, lots of hair, low birth weight, reflux, trouble with feedings, small chin, etc) There are 5 known gene mutations that cause CdLS and Jameson has tested negative for all of them, however there is still a decent percentage of kids that have this disorder with no genetic cause found. We ventured to the Children's Hospital of Philadelphia in April to see their doctors that specialize in CdLS and they wanted us to pursue something called a whole exome sequence. This is a blood test from Jameson, myself and Matt that looks for any gene mutation within the 20,000 genes in our body. After 6 long months we finally got the results back right before Christmas, but nothing definitive was found. There were a couple mutations of interest but nothing that explained Jameson's disorder.
This doesn't come as a disappointment or a surprise to our family, as we always knew it was a possibility we wouldn't find anything. It reiterates to us yet again that Jameson is a very special little man and most likely one in a million! :-) We will also always hold on to our diagnosis of CdLS because the groups of parents and caregivers are like a second family to us. There are a couple of programs that I'm looking into now that we might try in the future for children with extremely rare and undiagnosed disorders, one at Mayo and one at the National Institute of Health in Maryland. While part of me feels like I'm always going to want more answers, another part feels like there is never going to be a doctor or researcher that can tell me more about Jameson than myself. And as time goes on, I'm sure that will become more and more of a realization.
As always, we have a busy month coming up after this nice break in November and December! (Pray for no snowstorms!!) The second week in January we will be traveling to the U of Iowa for appointments with Endocrinology, ENT and Nephrology. The week after that we are back up to MN for appointments with our brain doctors! :-)
I hope everyone is having a safe and enjoyable holiday season! See you all in 2016!
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