A Southport couple is making it their mission in 2023 to save children with an extremely rare genetic disorder.

Just before turning 5, Jack Dwyer was diagnosed with spastic paraplegia, or SPG50. Nearly 90 children have it worldwide, including under a dozen in the United States.

“The disease takes away his ability to walk and then it takes away his ability to use his hands, and then it takes away is ability to think. So, this is devastating. Absolutely devastating,” said Mike Dwyer as he explained his son’s condition.

Dwyer says when Jack wasn’t reaching the same physical milestones as others, they knew something was wrong.

Dr. Andrew Wong, primary care physician and regional health director for Hartford Healthcare, says SPG50 can easily be confused with cerebral palsy, a much more common neurological condition in children.

Symptoms begin in infancy and include:

• increasing spasticity and paralysis in arms and legs starting at 1-2 years old
• microcephaly (small head size), intellectual disability and progressive cognitive decline
• delayed motor development
• poor or absent speech development

“Unfortunately, the condition has no treatment and is progressive.  Children will lose their ability to walk and balance, develop involuntary muscle contractions and have frequent, recurring seizures.  Even in mild cases, those with SPG50 will become completely paraplegic and unable to talk by the time they are 20 years old,” said Wong.

The Dwyers were referred to the National Institute of Health.  “When we were there, they recommended whole genome sequencing so my wife, Jack and I all had our genomes fully sequenced,” said Dwyer.

He added, “I never thought it was anything degenerative.”

The couple wasted no time fighting for their son and others. Doctors introduced them to a father in Canada whose son has SPG50.  Dwyer said, “He got a bunch of world-leading doctors to help him and fundraised millions of dollars to develop the gene therapy.” 

The little boy in Canada received the therapy in late March and is doing well. The father-to-father conversation inspired the Dwyer's to start their own nonprofit called Jack's Corner.  The donations have been pouring in. As of now, the family has received $600,000. “It’s been absolutely mind-blowing to us.”

Dwyer says it costs $250,000 for one child to get the therapy.  The mission behind Jack’s Corner is what keeps the couple going.  The waiting around is difficult.

“The doctors who are in charge of the trial and pick who the best candidates are. All we want now for Jack is a chance,” said Dwyer.

The couple's goal is to raise $2.5 million so more children can be treated. Click HERE to learn more about Jack’s Corner.