The Big Mistake I Made on My Son's Diagnosis Day

If I could go back to the day my son, Jacob, was diagnosed with mucopolysaccharidosis type I, I would do a whole heap of things differently.

But there’s one thing that stands out.

We had been searching for answers to my son’s medical issues since the day he was born. He was consistently in and out of the hospital. By the time he was 9 months old, he was exclusively tube-fed and needed oxygen 24/7. Despite all this, I had convinced myself nothing was wrong and that somehow it would eventually sort itself out.

I guess you could say I was living in denial.

One day, we were in the room with his consultant, and the words “degenerative” and “life-limiting” kept bouncing around in my head. She told us that without extremely invasive treatment, Jacob wouldn’t live past 10 years old and he’d stop physically and mentally developing at about 2 years old.

We had two options. We could put him on enzyme replacement therapy for the rest of his life, which would slow down the physical degeneration but wouldn’t stop the neurological side of things, or we could put him through a bone marrow transplant, which would stop most of the physical and neurological degeneration completely. Because of Jacob’s lung issues, a bone marrow transplant would be extremely risky.

I think it was at this point that I gave up all hope. I didn’t want to see anything other than the worst case scenario. I convinced myself he’d never make it through the bone marrow transplant even though inside I knew we had to go for that option anyway. We had to give him a fighting chance at a better life.

A year and a half later, I wish more than anything I could go back to that day and tell myself not to give up hope. Some days I can’t quite believe it, but he has surprised everyone. Despite some complications, he made it through his bone marrow transplant. He said his first words over the last couple months and has even started to crawl.

His future might be uncertain, but he’s a fighter. He deserves my belief in him.

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