Tuesday, February 28, 2017

Rare Disease Day 2017

Today is Rare Disease Day. It's celebrated the last day in February each year.

This is what I shared on Facebook today:

It's Rare Disease Day-a day designated to raise awareness for people affected by rare diseases. We never knee such a day existed until last year when we had a personal reason to celebrate and share. 

Why is it important? Hardly no one knows of Teddy's diagnosis. That means there's no research, no funding for research and no experts on this diagnosis-essentially no resources specific to his disorder.

The one resource specific to his diagnosis is our small group of other families affected by the same or similar PIGN mutations. The difference between being alone and bring connected to others is incredibly powerful. For that, I am grateful.

Someone asked a thought-provoking question, which I think is one of the best questions you could ask anyone about a diagnosis: What is his diagnosis, and what does it mean for him?

So many responses flickered through my mind:

It means everything is harder for him.
It means everything is harder for us.
It means he works so hard to reach milestones that others easily achieve.
It means we watched his younger, premature cousins pass him by in every milestone measured for babies.
It means that when his older brother has a fever, we give medicine to Teddy just in case he would develop a fever as well.
It means we worry that a fever will cause a seizure.
It means we fight with insurance companies to get him the testing he needed to be diagnosed.
It means we continue to fight with insurance companies to get him the therapy that allows him to make gains.
It means his first playmates, aside from his brother and cousins, were his therapists.
It means that instead of being passionate about people with different abilities because of my career, it became my entire life.  
Yet my response was this: 
 He has Multiple Congenital Anomalies Hypotonia Seizures Syndrome 1, a genetic disorder caused by mutations in his PIGN gene. He's a curious little boy who loves people who has global developmental delays. He gets OT, PT and speech therapy and is starting horse therapy next month. He's made tremendous progress with his gross motor skills and slowly but surely is making gains in other areas. There's so little known about his disorder, and we believe he'll write his own story.

I know you have two adorable boys with a rare disease as well. Sometimes our children open or eyes to a whole other world we never could have fully understood without them.


  1. Teddy is a testimony of the power of God. He glorifies God in his diagnosis, in his struggles, in his triumphs and successes and most of all with his smile. Teddy brings out the best in all of us! Keeping all of you in our prayers daily. Love You! Mom & Dad

  2. I agree with all of that except I'll add the caveat that Teddy does not bring out the best in me when I get 4 hours of sleep because he's up all night. ;-)