My PURA Gene Family – In Words
My son Aidan was born with an undiagnosed disability and remained undiagnosed for 13 years. It came as a total shock to us that there was even such a category as “undiagnosed”, that doctors sometimes really don’t have the answer.
So we lived for years with more questions than answers, at first fighting hard to find them, and then relaxing into the hopeful possibilities of each day.
At times I’ve felt frustrated and isolated by not belonging to any one disease group. And then I realized so many of the people in those groups struggle with similar medical and life issues – hospitalizations, IEPs, drug management, wheelchairs.
I didn’t need to fit in one place because I found support, advice, and answers in so many different places.
Then Aidan received a diagnosis last summer. We’ve done genetic testing over the years, mostly to contribute to science. So when our geneticist told us she found a specific genetic mutation in Aidan’s DNA, I thought, “Great, share it with your medical community and I’ll just get on with my life.”
The mutation is too new to have any implications regarding Aidan’s treatment so we would just stay the course.
I figured and hoped it would help some other mom in the NICU access better information down the line.
What I didn’t anticipate is that there were other families in these same circumstances right now.
Aidan was born before the internet (sort of) so even if he was born with a diagnosis, we would have only been able to connect with people we ran across in real life. Remember those days? Now the first thing people do when they receive a diagnosis is Google it and look for a group on Facebook.
I’ve wondered how our early days could have been different. Would I have been less lonely? More overwhelmed? Less hopeful? It’s hard to say and I suppose it doesn’t matter much. This is the path I’ve been on and it’s very different from the ones the younger moms are traveling. It’s also the same.
So at the other end of this diagnosis were other moms. A community. My tribe. Potentially a powerful patient advocacy group.
Through the magic of social media we found each other and several of them got their Brave on and came to Connecticut where I was able to host a get together.
It was intense for me. I’m an introvert who tends to skate around emotions. I’m able to manage Aidan’s health care easily while putting the more personal implications on hold.
These five incredible women arrived with their own stories and needs and inside I was churning up 14 years of – WHERE HAVE YOU BEEN??? and I’VE ALREADY PROCESSED THIS SO WHY DO I HAVE TO DO IT AGAIN??? and WHY DOES THIS FEEL SO INTENSE WHEN I’VE ALREADY FOUND MY GROOVE??? and also WHAT THE HECK DO WE DO NOW????
But I’m not alone anymore. We’re a team now which has implications of it’s own. How much more do I want to be defined by my journey with Aidan? How much of our medical life do I want to put forth into science? Which parts do I hold closely and which do I let go? What is for the good of the group and what belongs to my family?
I’ll figure it out. It’s a new chapter in our incredible story.
Aidan has two genetic mutations on his PURA gene which were discovered through Whole Exome Sequencing. If you want to follow our story you can join our Friends of PURA Syndrome Page on Facebook. To read more about some of our new family, check out the PURA page at the top of my blog.