World Rare Disease Day is approaching on Saturday, February 29th, 2020 and we continue raising awareness for PURA Syndrome by focusing on Ryker’s story:
Ryker was nearly 7 weeks old when we got a call from the social worker from the Children’s Hospital of Philadelphia’s (CHOP’s) NICU wanting to schedule a family meeting for that day. While we held our breath, they told us some of the tests they had done had come back with a cause for Ryker’s symptoms.
They had identified a single genetic DNA mutation in all of our bloodwork, meaning neither Brett nor I were a carrier of any genetic mutations, cancer genes, etc. Ryker’s blood had come back with two letters missing from his PURA gene. Two letters. In thousands upon thousands of DNA gene letters, two were missing that caused all of this. It was known as PURA Syndrome and it was rare. So rare, that the genetics doctor who gave us the diagnosis told us she had to look it up and had never heard of it. Less than 250 cases were known in the entire world. We now know this to be a “de novo” mutation- meaning it occurred “out of the blue” and was not inherited. As they handed us material printed out from the PURA Syndrome Foundation’s website, they told us what the symptoms were known to be: hypotonia, hyper somnolence, feeding difficulties, myoclonic movements mostly progressing into seizures, global developmental delay, probably will not talk, probably will not walk, the list goes on.
There was little talk of his future since there were too few cases to have any historical studies done or research known to indicate any of that. So in a way we knew what was wrong, but we really knew no more than we had before and are still left to wonder what the future will progress to be. At the same time we were relieved- relieved to know the trait hadn’t been inherited from either of us and it isn’t something we gave him by not being aware of our own genetics; relieved to know that there was nothing we did wrong or could have done to prevent it from happening and it was simply meant to be this way from the moment he was conceived; relieved that Ryker’s brother, Chase (then 2 years old) would know he isn’t potentially a carrier if he chooses to have kids down the road.
After leaving that meeting room we went right back to sitting with Ryker. I remember holding him and trying to stop crying for what seemed like hours. I remember all of those same doctors and personnel making personal appearances in our room after the meeting broke to offer their own words of encouragement. Of everything that was said, we still carry a few things with us from those personal talks. Namely, it is okay to grieve the life we thought we were building and the son we wanted to have. it didn’t make us bad people or mean we weren’t going to make a new best life possible. It was a necessity to grieve in order to move forward. He was still our son and we will do everything possible for him for eternity. (To be continued…)
We hope you will join us in sharing your #PURAPerfect story (#ShareYourStory). #ShowYourStripes on Rare Disease Day, Saturday, February 29th, 2020. Ryker’s story highlights the need for continued research into this rare condition, as well as the need to support and educate families and medical providers. To support Ryker, and more than 350 individuals with PURA SYndrome worldwide, please consider a donation to: https://purasyndrome.networkforgood.com/…91062-world-rare-…
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