PURA Gene Community
I’ve found community in many ways over the past several years and they’ve each been so important to me.
There were the medical moms who gave me information, guidance, and support. They taught me about seizures, sat with me during medical procedures, reached out to encourage me through the internet.
There were people who joined us in the trenches and came to our aid helping us raise money for an accessible van and then later to build an acccessible addition onto our home. These efforts took people of all kinds – fundraisers, letter writiers, cooks and carpenters, hope sharers and story spreaders. Every gift mattered.
I have writing friends, singing friends, reading friends, praying friends, talking friends and crying and laughing ones too.
There have been my people, the ones closest to me who listen when I get overwhelmed or join me in my dark humor and know when to let me wallow and when to help me problem solve.
It’s interesting to note that at the beginning of this journey with Aidan, one of my toughest challenges was feeling isolated, like I didn’t have a community. Without a diagnosis for Aidan, I didn’t quite know where to turn. Eventually, though, I realized I had more in common with families living with Down Syndrome and CP and autism than I realized. The specifics may differ, but I found people who deal with doctors and IEP meetings and therapists and medical equipment and all of the emotions associated with those.
And now I have an opportunity to expand my community even more. My doctor recently found three other families that have young boys with variants on their PURA genes, the same one as Aidan. We’ve agreed to have Aidan’s clinical information be part of a publication in a genetics journal in the hopes that doctors and researchers may learn more and other children will be found.
I sent my first email to one of the other moms. It’s hard to explain how excited I felt that we might connect. It’s interesting that we could be linked in such a foundational way, though that gene says nothing of the lives we’ve led, even though it’s been a life changer. We’ve waited 13 years for a diagnosis, and while Aidan still doesn’t have one, these findings could be a start. These three boys and Aidan may all have very different medical issues. In that way, they’ll fit right into this hodge podge group I’ve found myself to be a part of.
We started our search for community 13 years ago hoping for these three families and finding so much more along the way.