The One Painful Thing No One Told Us About Our Child’s Clinical Trial


“The risks include serious bodily injury, paralysis and even death.”

I’ve read those words now enough times that it doesn’t even phase me. Jaded? Maybe.

But when your child’s disease involves the certainty of death, the possibility of death doesn’t look so scary, especially when it’s coupled with the possibility of life offered by a new and experimental treatment.

How did I end up so jaded? And what risk could be as bad as that?

My son, Case, was diagnosed at 2 years old with the ultra rare disease Hunter syndrome (or mucopolysaccharidosis II). The clear impression from his doctor and the literature is that we would watch our son lose every skill he has — from walking and talking, to laughing and recognizing his family — until he died young, most likely by age 15.

So when we found out that a clinical trial was opening for his condition, we were all in. If we were going to go down, by golly, we’d go down fighting.

The trial planned to give the enzyme his body was missing, idursulfase, via infusions that would travel up his spinal fluid into his brain. The goal was to halt the progressive brain damage that was already stealing his words, his desire to play with his brothers, and his ability to control normal human impulses that would prevent the rest of us from leaping down a flight of stairs, running in front of a car or stuffing our mouth so full of food, we would choke.

At 3 years old, all that made him him was already being stolen moment by moment by a disease so terrifying that I cried every single day for the first year after he was diagnosed.

So when I read the 21-page informed consent for the first time, I didn’t even really read it. What it said was not going to change my decision. We had no other option if we wanted to save our son.

The doctor was careful to emphasize that they were simply hoping for stabilization. They weren’t certain it would even work. Or that the risks wouldn’t be too great.

So when Case slowly started learning again, started singing, playing, listening and swimming, we were thankful we’d made the right decision.

But there was one terrifying thing they never told us.

That 21-page consent never told us we would still have to watch his friends die.

It never said we would be shown the promise of life, but that it would take many years before most of Case’s friends could even dream of having the same opportunity.

Jack and Case

It didn’t say he would become aware enough to look at me and ask, “Why Jack not talk to me?” because his friend, Jack, had lost his words without ever getting access to this treatment.

It didn’t warn us that he would start to play with the siblings of his friends with Hunter syndrome and unknowingly leave his friends behind.

It didn’t warn us that our hearts would burn in pain for our friends, all the while the pain of watching our child slip away… was slipping away.

When your child is diagnosed with a horrible disease like Hunter syndrome, all you want is for your life to go back to what it was before.

But once you’ve lived in this world, it changes you. Your love for innocent children and broken mothers with shattered dreams transforms your world from the inside out. And when the opportunity arises where you can literally almost go back to your life before, you can’t. You won’t. You are forever changed.

You just want to save them all.

Learn more about our efforts to save them all at ProjectAlive.org. Follow this journey at SavingCase.com.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability and/or disease, and what would you say to teach them? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Share Your Story page for more about our submission guidelines.

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