PURA and simple….except that it’s not.
This new finding, this PURA gene gone wrong, it’s anything but simple.
Thirteen years without a diagnosis and now we have one. That’s a lot to take in.
It feels less like closure and more like a new beginning.
And speaking of beginning, this new diagnosis has taken me back to Aidan’s early days. I had so many questions and no one really had answers. I was mostly overwhelmed, scared and grieving. Those emotions are remembered deep in my bones and have been quick to surface and pull me down.
Now Aidan has a diagnosis, unofficially. This comes with a new set of questions, a whole new language – truncated genes, alleles, transcription – and still few answers.
I’ve met five other moms who have children with the same genetic variants as Aidan. These are the people I longed for in my early days when my son was born before Google. We’ve been discussing our children’s similarities, sharing scientific journals, asking each other questions. It’s exactly what community should be.
I want to invite them over for beer and nachos and a long weekend of talking and laughing and most likely crying too. I want to meet their children and see if I can detect that shared message tucked away in their 5th chromosomes. Of course we’re spread out all over the globe and they may be super classy so perhaps we should have wine and chocolate and borrow some fancy table clothes. But they’ve survived traumatic medical events too, so beer and nachos and wine and chocolate it is.
There are moms with young children in our group and I am reminded why we did genetic testing in the first place; it became less about Aidan and more about the future and potentially helpful scientific discoveries. I suppose I knew they were there all along.
I’ve felt very torn about my story. On the one hand, I want to hug these moms and say, “There is so much hope and you will find depths of yourself that you didn’t know existed. You will need that strength to survive hard things and you will. You will survive and thrive. Your child will be ok. Not walking and talking is not the same thing as not having any power to explore the world and discover and have fun and learn and communicate and love.” On the other hand, I’m not entirely sure that would have sounded like hope to me in the early days. I think I’ve become exactly the person I needed that I didn’t really want to know. Hope should feel bigger and yet it still takes up all the space inside me.
I found my sherpa too, my been there done that mom who will stand with me. She’s raising a teenager with a rare genetic diagnosis, popped out a baby then rocked a black dress at a foundation function, participated in a genomics conference using big fancy science words, then swore just the right amount about her entire journey to me on the phone. She’s holding hope for me in my heavy new beginning.
I went on a date with my husband last week. Our dates are rarely what they should be. We crave lightness and intimacy and romance on demand, which can seldom be delivered. I failed in parenting the night before. My precious Liam sat down next to me and asked me about my day. I was too caught up in the frenzy of the need for us PURA moms to do something and the overwhelming science of what I’m trying to understand. I ignored him. I carried all of that failure with me on our date and cried over my pasta. Garreth doesn’t quite feel the weight of this new journey, the strain of the questions and the burden of responsibility. I cried a little more, asking him why genes are so complicated and wondering when the waiter would be brave enough to bring our drinks over. As is often the case, the tears led to laughter.
None of this is simple. I’m excited to be on the cutting edge of science and I’m grateful that I’ve found other moms on the same journey.
I’m also remembering trauma, holding hope, and trying to make sense of it all.