It’s PURA Syndrome’s first birthday. It seems like a strange thing to celebrate – “Hey, I know why my kid is sick!”
Before Aidan’s diagnosis, as in, for the first 13 years of his life, we found things to celebrate even when we were struggling. It’s a matter of survival. I believe the Medical Mom’s eye is trained on good things.
We got into our groove of living without a diagnosis for Aidan, still feeling hopeful, and working through each challenge as it came. We even found community, among the AAC family, the Seizure moms, the IEP survivors etc.
When Aidan was diagnosed last July we found a whole new family and I started to learn more about this sub-culture of rare disease communities. There’s no one getting anything done on your behalf (sort of) because you’re mostly alone (kinda). If you want to have a positive impact on the progression of learning about and hopefully treating your child’s disease, you have to roll your sleeves up and get to work. This can be daunting. And, of course, we’re not really alone. The rare disease community comes together in a powerful way to learn from each other.
It’s less about being a family with a medical team and educational team, and more about being the person who will ask anyone anything and be persistant in getting answers. While I’ve gotten comfortable with doctors over the years, actually I’m the boss of my child and I see you as a knowlegable partner, rare disease world breaks it down further. Now the doctors are not just my child’s doctors but team players. We parents come to the table asking them to work together.
And it’s not just doctors. I’ve had great conversations and communications with software programmers, business folks, foundation creators. I’m not the same mom I was all those years ago and I’m learning new lingo and ways of getting things done even now.
It’s PURAs first birthday because it was one year ago that two papers were published identifying mutations in the PURA gene as the cause of certain medical issues in children. These put us on the medical map.
We have a lot to celebrate. We’ve found each other and already had two gatherings as a PURA family. We’ve built an incredible medical team that are working together to pursue more research and find more families. And, of course, we celebrate our children. Always at the center.
We will have ways for you to celebrate with us as soon as next week but you won’t find out about them here on the blog. Please come “like” our FaceBook page (you don’t even have to be signed up for FB to see the info) and stay tuned.
Now for the cake…..