A family of four in America is desperate to save their children from devastating Genetic disease. Treatments exist, but it’s up to them to raise $1.15 million to fund clinical trials.
Each of these families has a child with spastic paraplegia 50 (SPG50), Rare neurological disorders It affects less than 100 people around the world.
In a camera interview with Fox News Digital, the family talked about their competition with time to secure treatment. (See the video at the top of the article.)
The family’s goal is to raise $1.15 million by the end of October and start trials in the US. Jack’s Corner Support fundraising activities.
SPG50 slows a Children’s developmentAccording to the National Rare Disability Agency, it gradually leads to cognitive impairment, muscle weakness, speech impairment and ultimately paralysis.
“The prognosis varies from person to person, but it is generally progressive,” Dr. Eve Elizabeth Penney, an epidemiologist with the Texas Department of Health and a medical contributor to Drug Watch, previously told Fox News Digital.
“SPG50 kids may experience it early Developmental delaymuscle weakness and spasticity “can worsen over time, making it difficult for affected individuals to walk and carry out daily activities.”
No treatments are currently approved by the US Food and Drug Administration (FDA) for the SPG50. But people exist thanks to Terry Pirovolakis, a Canadian father whose son was diagnosed in 2017.
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“They told us to go home and love him — and told us he would be paralyzed from his lower back by the age of 10 and quadriplegic by the age of 20,” Piroborakis told Fox News Digital about his son’s diagnosis. “They said he wouldn’t walk or talk, and they said they’d need to support the rest of his life.”
Refusing to accept this outcome, Pyroborakis embarked on his mission to save his son. Gene therapy.
In March 2022, his son received gene therapy and is currently thriving. Pyroborakis then began phase 2 studies in the US, dealing with three more children. All report that the disease has stopped progressing and its cognition has improved.
Currently, the goal is to move on to phase 3 exams. This allows more children to get treatment, but families will need to raise funds for trial as the drug is not yet FDA approved.
Rebekah Lockard, from Littleton, Colorado, is desperate to treat 4-year-old Naomi, who was diagnosed with the SPG50 in 2023.
Her younger child, Jack, was also diagnosed with SPG50 and received treatment at Previous exam Because of his younger age.
“Naomi can’t walk and has a wheelchair for mobility, but Jack moves quickly with the help of pedestrians,” Lockard told Fox News Digital. “Naomi has some sounds and gestures she uses to communicate, but Jack advances his understanding of his gestures and what we say.”
“I’m very grateful that Jack received every day. Meaningful treatment When I was a child. And every day we feel despair that we were unable to give Naomi the same quality of life. ”
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Emma and Dylan Jobs, from Juneau, Arkansas, have a four-year-old son, Cade, diagnosed in 2023.
“Now, Kade can still walk short distances with his walkers, but without treatment, he knows he will lose his ability,” Emma Jobs told Fox News Digital.
“Now we live with the daily fear of seeing my son lose the skills and independence he is working hard to acquire. No treatmentCade’s future is one of decline. Eventually, you lose the ability to walk, feed yourself and make who he is. ”
Jordan and Cody Medeiros of Sio, Oregon, were devastated to find out that their 4-year-old son Lincoln had the SPG50.
“Since Lincoln’s diagnosis two years ago, the SPG50 has slowly taken away from its ability to walk safely,” Jordan Medeiros told Fox News Digital. “He falls frequently – multiple times a day. And he can’t put his pain or frustration into words.”
“The worst part is that you have eight doses and you’re sitting there and waiting to be given to kids who desperately need it.”
In Susquehanna, Pennsylvania, Jamie and Codywood welcomed the twins in 2022. In August 2025, they were devastated to find out that one of the twin Miras had the SPG50.
Just three weeks later, Mira took her first step. This is a milestone that her parents described as “bittersweet.”
“We know there’s only one treatment available to her, but without that, she’ll lose a milestone that would likely have taken her long to get it,” Jami Wood told Fox News Digital.
“Gene therapy is currently another treatment option for MILA, and this trial is our daughter’s only chance to stop this progression A terrible illness. Without the drug, we are destined to see her slip slowly. ”
The hope is that after the successful phase 3 trial, the drug will be FDA approved. This means that insurance companies and the government will cover this “large cost burden,” Piroborakis told Fox News Digital.
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“More importantly, it’s on top Newborn Screening Panelso there is a chance to catch and eradicate the disease. ”
Pyroborakis and his team are actively working with the FDA to ensure approval for this treatment, but “the process is not simple,” he said.
The challenge is that the FDA is currently applying the same manufacturing standards to smaller programs like Pyroborakis. Hundreds of thousands of children.
“In large-scale conditions, economies of scale can help reduce costs, but in our case, these requirements can be nearly impossible,” Piroborakis said. “FDA needs flexibility for these ultra-rare conditions.”
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Anyone who wants to know more about SPG50 and family efforts can visit Jack’s Corner Website.
Fox News Digital reached out to the FDA for comment.
