My PURA Gene Family – In Pictures
The quick and dirty – Aidan lived without a diagnosis for 13 years. Last year we found out he has two mutations on his PURA gene. Shortly after that we started meeting other families online with the same diagnosis.
In May we gathered in person. It was incredible in so many ways.
Here’s the story in pictures (all the good pictures credit to Rick Allen)
All of the moms who weren’t able to be with us in person were still with us. (also me as an artist is nowhere in my future)
We had a phone conference with Dr. P who is doing research on the PURA gene. We Medical Moms have been around doctors enough to spot a good one. Dr. P spoke to us for over an hour on a saturday. He patiently and thoroughly answered our questions. He’s also been in touch with another doctor studying PURA. GO TEAMWORK!! (On another note – how clever is it that we put the phone in the bowl to make it louder!)
We listened to each other’s stories
We talked about medical binders
and augmentative communication which is so important since most of our kids are functionally non-verbal
My sister’s Champagne Friday Friends generously cooked us dinner because my sister knows how to build community like a pro (also a Champagne Friday Friend is exactly what it sounds like)
So we talked some more as we were pampered
And then a really wonderful impromptu gift happened. My sister’s friend Jen is a sibling of an adult with a disability. This topic comes up all the time in Disability World and we moms are very vigilant. How can we help our neurotypical kids? Jen told us great stories of family adventures. Most importantly she said that her sister was just part of the family. They got out there and did what families do all together living life. It was incredibly encouraging.
It was all work and no play
And this is what I looked like at the end of the weekend followed by a three hour drive home followed by another three hour nap. Drained in the very best way possible.
And did I mention that we were able to Skype in Mel the Aussie, our science and technology wizard? It wasn’t enough for her so she’s decided to get on a plane in September and come to America. How crazy is that? We’re gathering again, this time with our families. I can hardly wait.
Special thanks to my mom for providing goody bags, my dad for opening his home, and the CFF for feeding us!
And what can YOU do to help? I’m posting PURA stories all week. Please choose one (or several) to share. There may be someone sitting at home alone with this very rare diagnosis who needs to find us!
And everyone is welcome to join us on the Friends of PURA Facebook page.