Night Rider

Aidan drove in the dark the other night.

Fast.

With wild abandon.

Garreth and Aidan had just picked Liam up from a school event and instead of heading inside for bed, Garreth decided to let Aidan roam. Aidan looked back once as if to say, “Are you sure you’re ok with this because I’m not afraid to hightail it outta here?”

Garreth stayed close for safety, of course, but always out of Aidan’s line of vision to let him feel alone.

Much giggling ensued.

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Sometimes I feel like I’m driving in the dark on Aidan’s medical journey. I’m a researcher and a note-taker and question asker so I don’t quite drive with wild abandon. Sometimes I have to work hard to shed myself of guilt. I give medical decisions the weight they deserve.  The darkness is less fear these days and more wondering. What’s out there and where exactly are we going and who will we meet along the way?

There is also, if not outright giggling, then at least deep gratitude. It may seem weird to others what makes me happy. I’m very excited to be on the cutting edge of science and to have if not a name than at least a gene to possibly explain Aidan’s medical issues. Something big is happening here. I’m incredibly grateful that our orthopedic surgeries are behind us and Aidan is using his new body well. I’ve learned that my marriage has a sweet spot and it’s during a medical challenge. Strange, I know, but I’ll take it.

And when I think about Aidan’s mobility, well, there probably is no greater joy for me than that. Damn that kid is smart. I believe there is a game of flashlight tag in our very near future.

And the laughter will be contagious.

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.

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Food for Thought

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Food for Thought – October 6, 2014 Edition

Letting Go of Guilty: On Folic Acid and Spina Bifida – Mary Evelyn gets her brave on and repeats my mantra that guilt is overrated.

And even as I write this I am tempted to explain– to give an account to anyone out there who might blame me as much as I once blamed myself. I could tell them about the doctors who assured me that there probably wasenough folic acid in my diet alone, or share with them the articles I’ve read about genetic indicators and multifactorial causes. I could build a case to protect myself.

But I am not writing this for the ones who might blame me.

I am writing this for you..

I am writing this to tell you that you are allowed to let it go.

You are deserving of grace. You are worthy of innocence.

You are not a cautionary tale. This does not have to be your

fault.

A Momentous Joyful Finish – The Barn Project - Many of you know that after Jason LaJeunesse finished our home remodel project, he didn’t skip a beat and went right on to help out our friend Miles and his family. This post is their project recap. If you’re in the Seacoast area please consider using these or these local contractors who gave so generously to our projects.

Brain on Fire – by Susannah Cahalan  – Riveting book about the life changing importance of a proper diagnosis and how patients, family members, doctors, and circumstances collide to save a life. Do yourself a favor and read it.

And my favorite photo of the week – Aidan got to see one of his former teachers that he LOVES this weekend:

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