Undiagnosed Children’s Day 2016

I threw myself a little pity party in 2011 when all the families with a diagnosis were raising awareness for their children’s syndromes. We were left out so I invented a day, Undiagnosed Children’s Day, and something wonderful happened. I discovered community. I love when that happens, a beautiful synapse. Turns out that our children are known as SWANS (Syndrome without a Name) and have organizations devoted to helping them both navigate the medical system and hopefully find a diagnosis.

A diagnosis can be useful in securing services or appropriate treatments for your child….but not always. And it’s nice to be part of a group, though you’d never want your child to be reduced to a disease name.

Aidan has a diagnosis now. He has PURA Syndrome. We know the cause of his disability but know little about how to proceed with treatment. That will all take time and research. We’re technically part of the Rare Disease Community now.

I spent Aidan’s early years desperate for a diagnosis but that was all with the belief that it would come with a pretty pink pill that would take all of his troubles away. Of course I see how ridiculous that is now. I was over the need for a diagnosis by the time one came in. When we were told Aidan had PURA Syndrome, I expected it would be written down somewhere and we would get on with life as usual. That didn’t happen. I went into an unexpected emotional tailspin, I became part of yet another wonderful community, and my life once again became defined by Aidan’s needs. I’m still sorting that all out. And to some degree our life did carry on as usual. We continued to face whatever issues were directly in front of us and helped Aidan with his specific challenges.

My sister said I used to write a really good blog. Sisters are allowed to say that and she’s right. There are several reasons my writing has changed, one being that Aidan’s in a very different life stage, another being the reality of his diagnosis. I didn’t realize the freedom and possiblity that came with having no diagnosis. I’m a glass half full person so with no one to tell me otherwise, I imagined all sorts of wonderful possibilites for Aidan. I still do, but it’s a harder now. Aidan’s story was only ever about Aidan (and our family) and it needs to remain that way, which is also harder. I edit a lot out in my mind when I write. I think about what others might take away.

I use this space to tell our story, to share what I’ve learned along the way, and how I want others to make space for us in the world. My hope is that it’s helpful to many, regardless of diagnosis. I still feel very connected to the Undiagnosed Community since we spent 13 years there. I would encourage you to read their stories, wear blue on April 29th, recognize the positive impact a diagnosis can have, and remember not to reduce anyone to a title, unless it’s their name.

My name is Heather and this blog is the story of my journey with my son Aidan.