Last August, our grandson, Spencer, was diagnosed with Sanfilippo Syndrome, shortly after turning 2 years old. Imagine Alzheimer’s but in children. That’s what Sanfilippo is like. But instead of striking adults later in their lives, Sanfilippo strikes kids just before kindergarten.
Children with Sanfilippo lack the gene necessary to break down cellular waste. It’s like the body not having a trash collector. The waste builds up and clumps together in the brain, resulting in the progressive degeneration of the central nervous system. Starting at age three or four, kids with Sanfilippo gradually lose all of their faculties. They stop talking, they stop walking, they can lose their eyesight and their hearing. They suffer seizures, hyperactivity, and dementia. Eventually they lose the ability to swallow and require a feeding tube.
Most die as teens. And there is no cure.
When we received Spencer’s diagnosis last summer, we were shocked and devastated. Like most kids with Sanflippo, Spencer appeared healthy at birth. He was a happy, good-natured baby who grew into a seemingly healthy toddler, apart from things like chest colds and fluid in his ears—issues that many children his age have. Never in our wildest dreams did we imagine that these problems were actually linked to a fatal, incurable disease. His diagnosis was more devastating than anything we could have ever imagined.
As a parent you want to protect your children. Once you have grandchildren, that feeling only becomes more intense. To know that they are now faced with this cruel disease is unfathomable. It becomes your whole life and just about all that you think about. It hurts to know that while other families rightfully get to look forward to their child’s or grandchild’s next birthday, each one of Spencer’s birthdays will only mean that our family is another year closer to his decline and death.
For all these reasons, we are now doing everything we can to help find a cure for Spencer and every child like him with Sanfilippo. We won’t get there without help. Big pharmaceutical companies haven’t invested heavily in rare disease research. Nor has our federal government. However, there is some promising research on the horizon. And that’s only because years ago, Sanfilippo families banded together and formed non-profit organizations to raise money for a cure to try and save their children. We are proud to join this fight.
So far, the Cure Sanfilippo Foundation has raised over $4 million for research and clinical trials. We would like to help them get to $5 million this year. Without that funding, there will be no research, and without research, there will be no cure – for Spencer or for any other child like him.
Cure Sanfilippo Foundation is a 501 C-3 not for profit organization. Donations are tax-deductible.
To donate online, go to: www.curesff.org/spencer. Every donation goes to help all children with Sanfilippo. It does not go toward medical bills; it goes toward scientific research and clinical trials.
To donate by check:
Cure Sanfilippo Foundation
PO Box 6901
Columbia, SC 29260
To learn more about our family’s fight and keep up with Spencer’s progress, follow him on Facebook at www.facebook.com/mypalspencercuresanfilippo.