Carl Kapes calls it a death sentence.
His 2-year-old son Ryan was lagging behind the other children at day care. He received treatment for chronic ear infections and underwent speech therapy, but something still wasn’t right.
“He was kind of behind that curve,” Kapes says. “We knew something was off.”
Doctors tested for ADHD and autism, but remained mystified.
In the meantime, Kapes and his wife had their second son, Brayden.
Doctors finally decided Ryan should undergo genetic testing.
“They said, ‘We’re looking for Sanfilippo syndrome, but don’t look it up. You’ll drive yourself nuts,’” Kapes says. “Of course, I looked it up. I was thinking, All right, this is the worst-case scenario. Whatever it is, we’ll deal with it.”
Then the diagnosis came back. Indeed, it was Sanfilippo—a rare and fatal genetic disorder that gradually causes children to lose the ability to speak, walk and eat. It affects one in every 70,000 births.
The syndrome, discovered by Dr. Sylvester Sanfilippo in 1963, is an autosomal recessive hereditary disorder, which means both parents carry the gene.
Normally, the human body uses sugar molecules to build connective tissues. When the body is finished with those molecules, it uses enzymes to break them down and dispose of them. Children with Sanfilippo syndrome do not have the enzymes that break down the molecules, so the body stores the molecules in cells, causing progressive damage.
When they are born, children with Sanfilippo show no signs of the disorder and appear normal. Then they begin to develop behavioral issues and lag behind their peers. As the syndrome progresses, the children become restless, experience sleep disturbances and often exhibit difficult behavior.
Eventually, they lose language skills, have trouble walking and then lose that ability altogether. Other symptoms include slowed growth, hearing loss, vision impairment, seizures and partial paralysis.
At the time of Ryan’s diagnosis—2009—there was no treatment or cure.
“It was devastating to hear that,” Kapes says. “And the fact that it’s genetic, that my other son could have it…”
So Brayden was tested. It came back positive.
“When the testing came back for him … you’re at rock bottom,” Kapes says. “You don’t get any lower than that.”
Doctors told Kapes that his children would probably live to be 12 to 15 years old and to “enjoy them while you have them.”
Says Kapes, “I can’t even begin to describe how devastating it is to be told your children will die and there is nothing you can do.”
Brayden Kapes//Photo by Luis Javy Diaz
Kapes, 41, of Wilmington, couldn’t sit idle and watch his children perish. There was one thing he knew he could do—raise money for research to develop a cure.
He reached out to other like-minded Sanfilippo parents and they formed the nonprofit Team Sanfilippo Foundation in 2010 to raise awareness and funding.
“At that point,” says Kapes, “I thought, OK. We can’t save our kids, but if we can save another family from having to go through this awful process, then we’re doing it.”
Kapes has spent the past seven years organizing dozens of fundraisers such as guest bartender nights, golf outings and run/walks.
In 2012, he climbed Mount Kilimanjaro, the tallest mountain in Africa, to inspire people to donate to the cause. The climb raised about $100,000 through the Team Sanfilippo website. The resulting publicity also helped spread the word about Sanfilippo. Kapes estimates the foundation has raised more than $1 million so far.
The first step toward helping Ryan and Brayden was entering them into a natural history study [a study that follows a group of people over time who have a specific medical condition] in Minnesota through a company named Shire. The biotechnology company focuses on treating patients with rare diseases.
Shire was developing an enzyme replacement therapy, but limited its clinical trials to 4-year-olds and younger, so Kapes’ sons didn’t qualify.
“I understand the reasoning behind it,” he says. “These companies are putting a lot of money into this and they want to come out with a viable product that they can market. There’s a business behind it, so they’re looking for the best candidates that can show the best improvement.”
Kapes didn’t give up hope.
After the Kilimanjaro climb, Team Sanfilippo president Kathy Buckley met Tim Miller, who has a Ph.D. in pharmacology with a focus on gene therapy. Miller was in the process of starting his own pharmaceutical company and knew people who were conducting gene therapy research to treat Sanfilippo at Nationwide Children’s Hospital in Columbus, Ohio.
The situation looked promising. Team Sanfilippo and other similar foundations pooled their money to help fund Miller’s new company, Abeona Therapeutics.
A drug was developed over the next several years and Abeona started producing it in September 2015. The U.S. Food and Drug Administration approved a clinical trial last spring and the first Sanfilippo child was treated in May.
“We’ve treated three patients and the data from the first two patients is very positive,” Miller said in early September. “Now we’re seeing positive signals that would indicate biopotency, which means that the drug got in and it’s doing its thing to break down the sugars that the kids have a problem breaking down. And we’re hoping to see longer-term benefits as the trial continues.”
Kapes says the trial will treat six to nine children, but he estimates there are at least 100 children who need the gene therapy to save their lives.
In March 2015, Kapes received a call telling him Brayden had qualified for the upcoming clinical trial. The bad news, doctors said, was that Ryan tested positive for an antibody that would render the treatment ineffective and he wasn’t eligible.
“A second death sentence,” Kapes says. “We went from the joy of news about Brayden’s eligibility to utter devastation about Ryan in a matter of 30 seconds.”
Once again, Kapes and his family faced a mountain. He considered giving up.
“I decided we all have come too far to not give every single one of our children suffering this disease a chance to receive treatment,” he says. “Unfortunately, it is mostly money now that stands between death and saving these children’s lives. Based on the kids’ age, we are in a race against time.”
Ryan is now 11 and Brayden is 8. Both require round-the-clock care. Because of Sanfilippo, they can’t be potty-trained, so they need to be changed, bathed and fed.
“They get to a plateau when they’re 5 or 6 and then they start regressing,” Kapes says. “It’s like having a 1- to 2-year old.”
While Brayden can still run and play, Ryan’s condition has regressed to the point where he struggles to walk on his own.
If Ryan doesn’t receive treatment, the progressive disease will continue to break down his mind and body. In August, he began having seizures and could not sleep through the night.
“Ryan’s having a lot of problems,” Kapes says. “We don’t know what’s bothering him because he can’t tell you.”
Kapes says Sanfilippo children around Ryan’s age receive feeding tubes because they lose the ability to swallow.
“He’s not there yet,” Kapes says. “We’re kind of fighting it off. We’re taking the approach that the longer we can keep him moving, the longer he’ll move. When the kids start to get wheelchair-bound, that’s when things start to backslide.”
Still, Ryan is experiencing some quality of life. He recently graduated from a fifth-grade special education class at Hanby Elementary School.
Kapes expects to know whether his children will receive gene therapy by the end of the year. He recognizes that the window is quickly closing.
“We’re teetering on the edge of keeping them as healthy and as strong as possible, but once the disease progresses so far, the kids can’t go through the tests and the things they need to do to get treated,” Kapes says.
So he’ll continue his fight. Joined by Miller, a photographer and local radio station personalities, Kapes climbed Mount Rainier in Washington in September. He will continue to raise money with the hope that the clinical trial will be expanded so that children with antibodies can also receive treatment.
“We’re at the end, especially for Ryan,” Kapes says. “This is either going to work for him or we’re going to have to just enjoy the rest of what we have with him.”