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What Rare Disease Day Means for My Son With a PIGN Gene Mutation

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The last day in February is Rare Disease Day — a day designated to raise awareness for people affected by rare diseases. We never knew such a day existed until we had a personal reason to celebrate and share.

Why is it important? Hardly anyone 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.

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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 being 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 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 every fever will trigger a seizure.

It means we fought with insurance companies to get him the testing he needed to finally be diagnosed — two-and-a-half years after his first seizures.

It means we continue to fight with insurance companies to get him the therapy that allows him to make gains, no matter how slowly.

It means his first playmates, aside from his brother and cousins, were his therapists.

It means that instead of being passionate about helping people with disabilities 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. It’s more commonly referred to as CDG-PIGN. He’s a curious little boy who loves people and 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 our eyes to a whole other world we never could have fully understood without them.”

This story originally appeared on Teddy’s Triumphs.

Originally published: February 22, 2021
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