By Matt LaBarre
Alison Bushnell and her family started the local chapter of the SPG15 Foundation, after two of her three sons, the oldest ( Josh) and the youngest (Jonathan) were diagnosed with the rare hereditary degenerative disease.
Josh, who is now twenty-six years old, began having noticeable challenges before he was two, including difficulties with speech as well as walking. “The doctors at Children’s Hospital initially diagnosed Josh as being on the autism spectrum, and while we thought there may be a genetic aspect to his condition, testing was very limited at that time.” Alison Bushnell, the boys’ mother, elaborated. “Josh started experiencing significant mobility problems when he was fifteen, and we brought him to a neurologist who put everything together and identified him as having the SPG15 genetic disease.”
Unfortunately, Josh can no longer shower himself, or bear weight, and is incontinent. Her youngest son Jonathan was diagnosed at an early age with developmental delays and began struggling with mobility problems as his brother had. “It’s difficult for Jonathan to watch his older brother’s struggles, and see him go downhill the past few years, as he anticipates what’s coming.” Bushnell says. The brothers do what they can in the way of exercise to maintain what strength and mobility they have. “The disease causes them both a great deal of physical pain, and the drugs they are prescribed to slow the progression have significant side effects.” Bushnell continues. Jared, her middle son, is not directly affected with SPG15.
Both young men require constant care, and Bushnell is particularly grateful for her parents who live in an in-law suite in the back of their Paxton home and are a great help. Bushnell is also grateful for having great health insurance through the company she works for.
“We began the foundation not so much to find a cure as to find a gene therapy treatment that would stop the disease’s progression.” Bushnell explains. She had talked at length with doctors at UMASS Hospital who are working at developing the kind of gene therapy program that would assist her sons and others around the world who are affected by SPG15. The doctors estimate they need to raise two million dollars to develop the program.
“It’s really amazing science!” Bushnell exclaims. “Doctors create a piece of a gene to replace the part of the gene that is damaged and could do this at an early age! “The new technology is great technology, and gene therapies are coming along so quickly now, but we need to raise the funds.” She adds.
Bushnell never expected that something like this would affect her family. Over ten thousand “rare diseases” are known to doctors. “Everybody knows someone that they love who will be impacted by a disease like SPG15.” Bushnell suggests.
The Research Foundation is busy raising funds to allow the gene therapy program to move forward. “We do a lot of grassroots fundraising, we have a Go Fund Me page, we’ve run a basketball tournament, we write grant proposals to foundations, and may be organizing a cornhole tournament.” Bushnell says. “We are always looking for volunteers to help us with the fundraising.”
“We’re also working to educate people about SPG15, and have some yard signs that we would like to have people display to bring SPG15 to people’s attention.” She states.
Please contact the SPG15 Research Foundation website or Facebook page for additional information or if you can help.