Five-year-old Will Byers is tall for his age. He loves fire trucks and grilled cheese sandwiches and playing with his little sister. He wants to be an engineer like his dad when he grows up.
But, due to a rare genetic disease, he might not live past his teens. The disease, Sanfilippo Syndrome, is a terminal illness with no known cure.
“It just knocks you through the floor,” said Will’s mother, Valerie Byers. “The geneticists tell you there’s nothing you can do … just go home and love him. It’s heartbreaking.”
When Will was a baby, he seemed healthy, Valerie said. It wasn’t until he started missing developmental milestones when he was three that she became concerned. Will was tested and diagnosed as autistic, but the diagnosis never sat right with Valerie, who has a background in psychology and had worked with autistic children.
It was earlier this year when she was catching up on the news that Valerie came across a segment on NBC’s”Today Show” about a little girl whose symptoms sounded a lot like Will’s: large head size, course hair, heavy eyebrows, stiff joints, hyperactivity.
I just started crying,” she said. “I thought, ‘that’s what my son has.’ I knew in my heart it was Sanfilippo.”
Despite the disease only affecting one in 70,000 births, Valerie’s instinct was correct. Will’s tests came back positive for Sanfilippo Type B, an especially rare form of the disease. The Byers immediately had their younger daughter, Samantha, tested for Sanfilippo and discovered that, though she does not have it, she is a carrier.
Sanfilippo Syndrome occurs when a child’s genes are missing an enzyme that helps eliminate waste in the cells.
As the child grows older, more and more waste builds up in the cells, causing progressive damage. Over time, the damage causes the child to lose the ability to walk, see, speak and, eventually, function at all.
But even as Valerie and Tim were devastated by the discovery that Will has the disease, they consider themselves fortunate to have caught it early. Most families live with a misdiagnosis of autism until the child is older.
“It’s relieving to understand what you’re up against,” said Will’s dad, Tim. “You can formulate a plan.”
This summer, Will secured the final spot for an experimental clinical therapy that only 11 children in the world are participating in.
For the trial, every other week, Valerie and Will pack up and fly to Minneapolis, Minnesota, where Will has to sit still in the hospital for two hours as the experimental drug is pumped into his system.
“He gets to watch all the cartoons he wants and drink all the apple juice he wants,” Valerie said.
Will finishes the first phase of the trials this month and will learn if he is approved for the second phase, which will continue for another two years before the family will have any news as to whether the treatment is working. Although the schedule is grueling, the Byers are hopeful that this will give their son a fighting chance.
The Byers have also jumped full force into raising funds and awareness of the rare disease. In the six months since Will was diagnosed, they have raised $100,000 for the Cure Sanfilippo Foundation. Tim’s employer, Anadarko dedicated its annual Bass Fishing Tournament fundraiser proceeds to the foundation, Glazed Donuts in Houston invited Will to design his own donut, which they sold to benefit the foundation, and various local groups have rallied behind the cause.
In the meantime, the family is focused on making the most of the time they have with Will.