Mike Graglia and his wife, Ashley, were thunderstruck when their 4-year-old son, Tony, was diagnosed in 2018 with SYNGAP1 syndrome—a rare genetic neurologic disease that causes seizures and developmental problems. “I got the call from the geneticist late on a Friday afternoon and spent the whole weekend searching the internet,” recalls Graglia, who lives in Palo Alto, CA. What he found upset him: “Stories of people having up to 100 seizures a day, not being able to walk independently, becoming violent.”
A variant on the SYNGAP1 gene causes insufficient production of the SynGAP protein, which makes it difficult for neurons to communicate effectively, resulting in seizures, hyperactivity, and aggression, according to the National Organization for Rare Disorders. Graglia believes the syndrome is significantly underdiagnosed: Only about 1,000 people have been identified with it, although it's estimated to occur in about one in 10,000 people, according to a study published in the Journal of Neurodevelopmental Disorders in 2022, and it may account for up to 2 percent of all cases of intellectual disability.
After Tony's diagnosis, his parents couldn't find many resources for families dealing with the disease. “It became clear to me that if I wanted to see research in this area, I'd have to fund it myself,” Graglia says. He left his job as budget director at the Emerson Collective, a social justice organization, to start the SynGAP Research Fund to support studies and development of treatments. “I was so impressed by the Dravet Syndrome Foundation that I modeled my own organization after them,” he says.
“Since this isn't a common or fatal disease, it's harder to interest drug developers in a treatment,” Graglia says. “But my wife and I both have finance backgrounds, so we knew we had the experience to fundraise to support research.”
Tony, who is now 8, requires full-time care. He still wears diapers and has trouble sleeping. Any change in his routine can trigger a tantrum with a lot of screaming and throwing, his father says. Along with special education services at school, Tony receives occupational, speech, and physical therapy. “We can't take him many places or leave him with babysitters. We don't take family vacations because his behaviors make it too difficult for him to travel,” says Graglia.
On good days, Graglia is excited and motivated by what he and his wife have achieved, both at home and at work. “On bad days, I look at my other son, who is four years younger and neurotypical, and worry about what his life will be like caring for Tony when Ashley and I are gone. What keeps me going is the knowledge that the more work I do now, the more will be in place to help my sons when we are no longer around.”
When parents are told their child has a life-limiting neurologic disease, they may feel many emotions: relief that the wait for answers is over; shock at the diagnosis; fear, anguish, and anger about what their child's future holds; even guilt over passing on a hereditary disease. And they may be inspired to act—starting a foundation as the Graglias did, partnering with a pharmaceutical company to promote research, or donating money and signing petitions. “Every parent should be encouraged to tell their personal story and create a strong relationship with their child's medical team,” says Amy Brin, MSN, executive director of the Child Neurology Foundation in Lexington, KY.
Advocacy can involve lobbying to change government programs and policies, but it also can happen on a more personal level, says Ann Tilton, MD, FAAN, chief of the child neurology section at the Louisiana State University Health Sciences Center in New Orleans. “It means a parent speaking up—whether it's to a medical professional, to a child's school, or even to other family members—and saying that something is important and needs to be done.”
This sort of day-to-day advocacy is often the most important, says Brin. “For many families, financial, geographical, and even cultural barriers make advocating for their child challenging. Advocacy is about being inclusive and equitable. We need to recognize advocacy at every level.”
Ellen Seidman, whose 20-year-old son Max has cerebral palsy, started a blog when Max was in kindergarten to connect with other parents of children with the condition, and she and her family have participated in cerebral palsy fundraising walks. “When Max was born, his pediatric neurologist in the neonatal intensive care unit was all doom and gloom, which really brought me down. I was struggling with all the prognoses, and I realized I needed to hear other people's stories,” says Seidman, a magazine editor who lives in Maplewood, NJ. “There's comfort in numbers, and I wanted a forum to help encourage other parents.”
On her blog, Love That Max, Seidman has highlighted the Special Olympics' campaign to eliminate the use of the word “retarded.” (Thirty to 50 percent of people with cerebral palsy have an intellectual impairment, according to the Cerebral Palsy Foundation.) “There's already so much prejudice and misunderstanding about people with intellectual disabilities, and this seemed like a small but powerful thing I could do to help. If I can change just one person's opinion, I've succeeded in advocating for Max—and for any other child with a neurologic disease that causes intellectual disability,” she says.
“When Max was younger, I'd advocate for him at school meetings, but now that he's getting older, he's begun to advocate for himself,” Seidman adds. “He knows what he wants and doesn't want—even if it's as simple as taking a pill whole instead of crushed—and he can communicate that now.”
John Killian needed better answers than he was getting from the doctors when his son, Sam, was diagnosed with Duchenne muscular dystrophy 18 years ago. They told him there was nothing they could do for Sam, so Killian hit the internet. He found the Parent Project Muscular Dystrophy (PPMD) website and emailed its founder, Pat Furlong, at 4 a.m. She emailed him back 20 minutes later.
“She suggested I look for clinicians who were actively doing research on the condition,” says Killian, who works in commercial real estate. Through Furlong, Killian connected with a neurologist at the Cincinnati Children's Hospital Medical Center. He flew with Sam from their hometown of Dallas to see her. “She was the first physician to treat Duchenne like a chronic illness rather than a terminal disease,” he says.
Sharing Knowledge
Killian got involved with PPMD to improve treatment for children with muscular dystrophy nationwide. “We wanted to make Sam's level of care accessible to families who don't have the resources to fly cross-country to see specialists,” he says. Killian and his family have attended the organization's advocacy meeting in Washington, D.C., every year, lobbying members of Congress to increase funding of research on various forms of muscular dystrophy.
Over the past two decades, PPMD has raised more than $50 million for research and therapy development and successfully lobbied the federal government to invest $600 million more. Five drugs have been approved by the U.S. Food and Drug Administration, and several promising therapies are in development. “When Sam was diagnosed in 2005, no drug trials were on the horizon,” says Killian. “Today, several clinical trials are in progress, and there's hope for the future.” One of the Killians' daughters was so inspired by her family's advocacy, she went into government work and is now a congressional aide.
In 2012, Matt Wilsey's daughter, Grace, was diagnosed with NGLY1 deficiency, a rare disease in which a genetic mutation results in underproduction of an enzyme called N-glycanase 1 (NGLY1), which helps remove misfolded proteins. Symptoms include seizures, abnormal tear production, liver disease, developmental delay, and low muscle tone, according to the National Organization for Rare Disorders. Grace, who is now 12, can't talk and is at the developmental stage of a toddler.
At the time of her diagnosis, Grace was only the second child in the world known to have the condition, and doctors had no idea what the gene did or why the mutation caused neurologic complications. “Doctors told me and my wife, Kristen, that we needed to go home and just enjoy Grace,” Wilsey says. “To us, that was basically saying, ‘Give up.'” A Silicon Valley tech entrepreneur, he decided to start a foundation, Grace Science, and reached out to experts around the country. “These researchers aren't in their fields because they want to become rich and famous; they want to help kids like Grace,” Wilsey says.
Taking Action
Wilsey's foundation has raised more than $9 million and recruited about 150 scientists, including Nobel Prize–winning chemists Carolyn Bertozzi and Jennifer Doudna. “I just told them the story of Grace, and they listened,” he says. “My daughter can't advocate for herself, but she's such a pure life force that it's easy to want to help her.”
Wilsey is one example of a parent using his background and talents to create ways to advocate for his child. Tim Swenson is another. He's the owner of a motorsport and marine dealership, and he built a prototype for an outdoor wheelchair in his hobby shop after his son Jeff—who used to snowmobile and snowshoe—was paralyzed in a car accident at age 16. Since developing the Action Trackchair, an all-terrain wheelchair with tracks, in the late 1990s, Swenson has sold thousands of the chairs worldwide. “It all started with a desire to get my son outdoors,” says Swenson, who lives in Marshall, MN. “Seeing others use my wheelchairs and get to places a normal wheelchair can't go is so very rewarding.”
While some parents have founded advocacy organizations, existing groups also can offer support. The Child Neurology Foundation has a downloadable “New Visit Toolkit” on its website that allows parents to record all their child's medical information, their primary goals for the neurologist visit, and their main three concerns and top three questions. “Doctors prefer summaries over specifics, so having the information organized in this format makes advocating for your child in their office easier,” explains Brin. “It also helps you prepare for your visit and chronicle your story so that you are an equal partner in your child's medical treatment.”
The Autistic Self Advocacy Network provides guidelines on how to talk about your experiences for political advocacy, whether you share them with legislators or local media or at a town hall meeting. The Dravet Syndrome Foundation offers assistance and information if you want to host a benefit event; join a local fundraising walk, run, or race; or volunteer as a family ambassador.
The urgency of their stories makes parents effective advocates, says Dr. Tilton. “There is nothing more compelling than being on Capitol Hill with a parent advocate,” she says. “We physicians have an impact, but the strongest voices that make the biggest impressions are of those who live and breathe it.”
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