"He just wanted to be with his brother,” Deborah reflects after losing her second son to a rare disease, just 4.5 months after losing her first.
Less than three years apart in age, Luke, Deborah’s oldest son, and Isaiah, her youngest, were incredibly close, but a rare disease called GM1 gangliosidosis unfairly took their lives at just 10 and 8 years old.
GM1 is a genetic disorder that progressively destroys nerve cells in the brain and spinal cord. In Deborah’s words, it causes affected children “to go backwards and lose their [motor] skills, until eventually they can’t function anymore.”
It’s a cruel disease that caused Luke and Isaiah to become “trapped in their own bodies. Their minds were all there. They could understand you, but they couldn’t reciprocate what was going on. You could tell the frustrations they had.”
While they couldn’t express all that they wanted throughout the course of their disease, they never lost the ability to laugh. Like many boys their age, they chuckled when people tripped and fell, and Luke, in particular, got a good giggle from the lyrics of Johnny Cash’s “A Boy Named Sue.”
When Luke was a baby, he was developing quickly and began talking early. However, at 18 months, “out of nowhere, the talking just stopped.” He started regressing and got more clumsy. Most doctors said that it was rather standard developmental delays that would pass in time. But a mom knows best: “I was frustrated. I was angry. I knew something was wrong,” Deborah remembers.
After 4.5 years of looking for answers, Deborah got the phone call the week after his 6th birthday: he had GM1. She immediately got her other two children tested and received more devastating news. Their middle child was a carrier, and their youngest also had the disease.
Deborah’s life completely flipped in that moment and then flipped entirely again just a few years later when Luke and Isaiah passed.
“With any death it’s a struggle, but [for rare disease parents and caregivers] you go from going full speed every single moment of your day to nothing. It’s like having an identity crisis.”
For those who have dedicated so much of their life to managing a rare disease, the time back for yourself can be overwhelming. “What do I do now with this extra time I have?,” Deborah still asks herself. “You almost feel like you’re wasting time and being lazy. You feel absolutely guilty.”
One of the things Deborah has done with her newfound time is making sure Luke and Isaiah’s “journey wasn’t meant to just be over and that’s it and that’s as far as it goes. Something burns in you to see change.”
Deborah has signed up with AllStripes, a platform that allows rare disease patients and families to digitally store their medical records and share the de-identified information with researchers in search of treatments and cures for their rare disease.
“I feel like if my sons’ lives can help somebody else, I want it to. If their struggle and journey can help push toward a cure or clinical trial or anything, that’s what they would’ve done.”
