SOUTHPORT, Conn. (WTNH) — “It’s mind-boggling and it’s heartbreaking,” stated Devin Dwyer, talking about the reality her family is facing.
Devin and her husband, Mike, tried for years to have a baby. They welcomed little Jack in 2017 and call him “their miracle”.
At six months old, Devin noticed her son wasn’t meeting milestones.
“He’s a really happy kid which is a blessing,” said Mike.
Thus started a medical journey that led them to a pediatric neurologist.
“He ended up referring us down to the National Institutes of Health (NIH) and they took the case and did whole genome sequencing on Jack and on Mike and on me,” recalled Devin.
“We just got the diagnosis in April of this year when Jack was almost five,” said Mike of the lengthy process.
These Southport parents found out Jack has SPG 50, an extremely rare, degenerative genetic disorder that affects only about 87 children worldwide.
“How is this happening, how are we in this world we didn’t even know existed?” expressed Devin with heavy emotion.
The devastation was met with action, as the Dwyers almost immediately founded Jack’s Corner, a non-profit dedicated to finding a cure for their son and all children who suffer from the disorder.
“We shared our story and it was scary, part of us didn’t want to put him out there, but there was this incredible outpouring of support,” said Devin.
“A Dad in Canada had just developed a gene therapy for the disease,” explained Mike.
This news is bolstering their hopes and they’ve already raised $250,000 dollars for one child to get the therapy.
They’re trying to raise $2.5 million with the goal of helping dose eight to ten children.
“It’s been eye-opening how many moms and dads there are, out there fighting for their kids. Rare diseases rely heavily on private fundraising,” noted Devin.
Jack is now able to run and talk but his parents see changes as time passes. The disorder robs patients of the ability to walk and use their hands. It eventually affects cognitive abilities, as well.
“He’s amazing, just the sweetest, most loving kid, he has a huge heart,” said Devin.
The Dwyers’ hope is that the therapy will halt the progression of the disease.
Through it all, they count their blessings. The biggest one? Their little boy and his joyful spirit.
“We want him to have a chance, a chance at a full life. A chance that every child deserves. He’s our baby and we want everything for him,” said Devin.
The FDA has approved the clinical trial. The Dwyers said dosing will begin for some patients early next year.
Click here to learn more about Jack’s Corner Foundation.