In the summer of 2009, Carl Kapes received the devastating news that his 4-year-old son Ryan had been diagnosed with a rare, deadly and incurable genetic disease named Sanfilippo syndrome.
But the most difficult day of his life, at least to that point, Kapes said, would not occur until two months later.
That’s when Kapes found out his 2-year-old son Brayden also had Sanfilippo.
Driving home from the doctor’s office that day in September, Kapes was reeling from the harsh likelihood that both of his children would die before they reached adulthood. For three days, he surrounded himself in his suburban Wilmington home with his closest family members and just cried.
In the seven years since, Kapes has literally climbed two of the tallest mountains in the world (and raised $1 million) in his efforts to help find a cure.
He said raising children with a terminal, degenerative disease led to heartbreak that “no parent should ever have to go through.” That heartbreak ultimately broke up his marriage.
Sanfilippo is inherited through a genetic defect carried by both parents. A child with the disease experiences debilitating neurological problems that resemble a severe case of multiple sclerosis and autism. The child’s physical development plateaus, usually before the age of 10, followed by gradual degeneration and eventual loss of physical abilities such as talking, walking and controlling limbs.
As the disease progresses, the child enters a vegetative state and typically dies before age 20.
“I can’t even explain how awful it is to hear that your child is going to die from a disease with no treatment or cure,” Kapes said. “It just changes everything you live for or strive for.”
After receiving Ryan’s diagnosis, Kapes and his wife, Jennifer, were told by their geneticist, Dr. Karen Gripp, that their 2-year-old son Brayden, who had no symptoms, would also need to be tested for the disease. As they anxiously awaited the results, they convinced themselves that Brayden was going to test negative.
“We went to the beach, and when we got back we were supposed to go into the doctor’s office that Wednesday,” Jennifer Kapes said. “But I called on Monday and told them we couldn’t wait anymore. And they said to come in.”
“These are the things you look back on and remember,” Carl Kapes said. “If Brayden didn’t have it, they would have told us he’s fine. No need to come in.”
Sanfilippo syndrome was named after Sylvester Sanfilippo, who conducted a comprehensive study of the disease at the University of Minnesota in the early 1960s.
The disease is also known as mucopolysaccharidosis III, or MPSIII. According to the National MPS Society, it affects 1 in 70,000 children. In comparison, multiple sclerosis affects just under 1 in 10,000 adults, according to the National Multiple Sclerosis Society, and 1 in 68 children are afflicted with an autism spectrum disorder, according to the Centers for Disease Control and Prevention.
Sanfilippo is an autosomal recessive genetic disease, which requires both parents to be unaffected carriers of the abnormal gene in order to conceive a child who could be born with the disease. The child has a 1 in 4 chance to be born affected and a 2 in 4 chance to be born an unaffected carrier.
Mucopolysaccharides are long chains of sugar molecules that aid in the construction of connective tissue. During the continuous building process, the body breaks down the used mucopolysaccharides, most of which are then absorbed and recycled. A child with Sanfilippo is missing a key enzyme that allows the breakdown. Sanfilippo has four classifications, A, B, C and D, which are determined by the particular enzyme that is missing. Without the enzyme, mucopolysaccharides remain stored in the body’s cells, which causes eventual loss of speech and hearing, and the ability to walk and eat. A child in advanced stages of the disease suffers from seizures that can result in death.
The average lifespan of a child with the disease is between 15 and 20. Although the long-term prognosis is bleak, the first two years or so of a child’s life with Sanfilippo often are normal, which makes the disease difficult to detect early.
Ryan was born Nov. 28, 2004, and showed no signs of abnormality. He was a happy baby and developed into a social toddler who loved to be around other children. Like his father, he had a passion for baseball and basketball. When he wasn’t watching his favorite television show, “The Backyardigans,” he was dancing around the house and spreading joy with his infectious smile.
Ryan’s first symptoms occurred in daycare when his speech began to lag behind other children and he struggled to become toilet-trained. A family doctor found no signs of anything serious.
When Ryan neared age 2, he began to exhibit hyperactivity, a common behavior among children with Sanfilippo. As the symptoms persisted, Carl began to think there was something more complex at work.
On a recent September afternoon, Ryan draped his right arm over his father and leaned all of his weight on him. Slowly they climbed the stairs at home. Ryan tried to lift his leg to take the next stair, but he needed his father to grab his ankles and lift his legs. After almost two minutes, they reached the top. Then Kapes removed Ryan’s soiled diaper and lifted him into the tub, where the warm water calmed him.
As he stood in the bathroom watching Ryan, now 11, Kapes reflected back on those first signs.
“At that point we had gone far enough to know that something was wrong,” he said. “The doctors went through a list of things like autism, but they found no smoking gun, which is when they decided to send us to our geneticist.”
One of the first tests geneticists run is a urinalysis. Sanfilippo is a storage disease, which means the mucopolysaccharides that fail to be broken down are stored in the body and eventually make their way into urine.
The urine test showed a high concentration of mucopolysaccharides. Dr. Gripp then ordered a blood test to screen for Sanfilippo and the diagnosis was confirmed.
“Getting Ryan’s diagnosis was terrible in its own right,” Kapes said. “A few weeks after Brayden’s diagnosis, I came to terms with it and I decided I have to enjoy my kids while I have them. But at the same time I was going to do whatever I could to find a treatment or cure for the disease.”
His quest led him to the Team Sanfilippo Foundation (TSF).
At the end of 2009, Kapes met with TSF parents. Patty Taormino of Baltimore, vice president and co-founder, recalled the energy Kapes brought to the foundation.
“Carl was a fighter from moment one,” Taormino said. “Like most parents who find out their child has the disease, he asked a ton of questions and was eager to try and find a cure. But he was different and we were excited to have him.”
Taormino’s son, Jesse, was diagnosed with Sanfilippo in 2001 when he was 6. Earlier this year, at the age of 21, he graduated from the Maryland School for the Blind, a special-needs high school near the family’s home. Taormino credits Jesse’s ability to exceed the life expectancy of a child with Sanfilippo to her 15-year dedication to natural therapies and dietary supplements.
The Kapes boys are getting Taormino’s customized regimen. Standing at the counter in his kitchen, Kapes adds a combination of dietary supplements and medications into a bowl of yogurt. Like a scientist in a lab he weighs powders, breaks open pill capsules and stirs vigorously until the “cocktail,” as he calls it, is ready. The regimen is administered twice daily.
As he spoon-feeds Ryan, who can no longer control his hands well enough to feed himself, Kapes explained that Taormino’s approach to treating Sanfilippo is legendary.
“I like to call her the Sanfilippo whisperer,” Kapes said.
Over 50 families come to Taormino for advice about dietary supplements. While there has been no medical research on the supplements’ effects on Sanfilippo, all the families she advises say they see positive results.
Kapes said he believes Taormino’s supplements are slowing the boys’ regression.
The friendship began near the end of 2009 when Kapes held his first fun run to raise money, and Taormino attended. Shortly after the run, he began holding charity golf tournaments in Wilmington and Sugarloaf, Pennsylvania, just a few miles from his hometown near the Pocono Mountains. The golf tournaments, which start at 11:28 a.m. to honor Ryan’s birthday, raise about $30,000.
But Kapes said he knew that if any major breakthroughs were going to happen, the fundraising needed to increase dramatically. And it did, thanks to him.
In early 2011 Kapes and TSF discovered the Pepsi Refresh Project, a series of month-long contests that allowed the public to vote for a specific cause through Facebook, the Pepsi Refresh website and text messaging. Each month’s winning cause would receive $250,000.
For a month, Kapes flooded social media with vote requests and pleas for a “share” or a “like.” He called everyone he thought might care, spoke into any ear that was tilted his way, and at the end of the month he received joyous news: TSF had won the $250,000 prize for January.
“We don’t have many victories with this disease,” Kapes said, “and that was a big one. But I knew it was just the start.”
The money Kapes raised was donated to gene therapy research at Nationwide Children’s Hospital in Columbus, Ohio, by two Ph.D.s, Haiyan Fu and Douglas McCarty, and a medical doctor, Kevin Flanigan.
The gene therapy is attached to a virus that has the ability to cross the blood brain barrier, which allows access to the central nervous system. At the time Fu’s research was unique in the battle against Sanfilippo, which motivated Kapes and TSF to search for more ways to raise money.
After the Pepsi refresh victory, Kapes and his family were invited to Give Kids the World Village in Orlando, Florida. The village is a nonprofit resort that provides free, weeklong vacations for families of children diagnosed with life-threatening illnesses. The package includes theme park tickets, food and transportation.
On the trip, Kapes met a family with a relative who had climbed Mount Kilimanjaro in Africa to celebrate a family member who had defeated cancer. Kapes decided he would climb Mount Kilimanjaro (“a no-brainer”), but he wanted to do more. “I needed a way to get the word out and somehow find a way to raise money,” he said.
During his morning commute to his job as an electrical engineering manager at Delmarva Power in Wilmington, Kapes often tuned into the “Preston and Steve” radio show broadcast by WMMR in Philadelphia. He decided to reach out to the producer of the show, Nick Mcllwain, to ask him to spread the word about the disease and the climb he would be making.
Kapes emailed Mcllwain and received a gentle no. Undeterred, Kapes persisted and finally got Mcllwain’s ear.
“I was immediately impressed by his tenacity and graciousness,” Mcllwain said. “He wasn’t overbearing, and the open and honest way he spoke about the disease intrigued me.”
McIlwain was on board.
In early 2012, Kapes, a former college baseball player, and McIlwain began working with personal trainers and WMMR listeners began pledging money.
In August, they flew to Africa to climb the 19,000-foot peak.
During the five-day climb, Kapes said the guides, who spoke Swahili, were constantly saying “polay, polay, polay,” which means “slowly.” The climb demanded stamina and patience, qualities that Kapes said he knew a lot about being a parent of a child with Sanfilippo.
“There are a lot of parallels you can draw when comparing climbing a mountain to experiencing Sanfilippo,” Kapes said. “It’s clearly an uphill battle, and there are times when I feel like I might not make it, but there’s also plenty to be hopeful for.”
The Kilimanjaro climb raised nearly $100,000 for Fu’s research.
When Kapes returned home, his boys were physically regressing and their cognitive functions were deteriorating.
One way that Kapes measured Ryan’s regression was by encouraging him to sing “Take Me Out to the Ballgame.” At one point Ryan was able to sing the song in its entirety, but as his conditioned worsened, he struggled to make it halfway through. Eventually he could not sing a single note.
His marriage suffered.
“We had a different approach to dealing with the disease,” Jennifer Kapes said. “He was much more focused on finding a cure and wasn’t going to take no for an answer. But as a mom, I just wanted to take care of them.”
They divorced in 2012 and share custody of the boys.
Around this time, Kapes was in the midst of his most productive stretch of fundraising. He discovered a similar online contest to the Pepsi one, run by Vivint Home Security, and secured another $100,000.
That brought his fundraising for the year to nearly $500,000.
The therapy was nearing reality, but doctors needed a bridge between the lab and the Food and Drug Administration.
In early 2013 Abeona Therapeutics was formed by Tim Miller, a Ph.D. who had spent over 13 years researching gene therapy and regenerative medicine. Miller formed Abeona in conjunction with Nationwide Children’s Hospital to focus Sanfilippo research on developing therapies and finding a cure. Abeona reached out to advocacy foundations around the world to connect them with the research.
Among the foundations that joined in the fight were TSF and Ben’s Dream from the United States, Foundation Sanfilippo from Switzerland, Stop Sanfilippo from Spain, and the Sanfilippo Children’s Research Foundation from Canada. The money raised by the foundations helped to push the gene therapy into clinical trials.
Fu, McCarty and Flanigan developed ABO-102, a viral-based gene therapy. The brain is protected by a blood-brain barrier, which acts as a filtering mechanism to protect against viruses and other potential neurotoxins. ABO-102 is attached to an innocuous virus that has the ability to penetrate the blood-brain barrier.
The therapy delivers a normal copy of the defective gene. That allows organs to produce the missing enzyme in Sanfilippo patients. The therapy helps to repair cells damaged by the disease and can prevent further damage. Children who receive the therapy will not see a complete reversal of degeneration caused by the disease, but if the drug is successful, they should not experience further deterioration and could expect a longer lifespan.
The FDA approved the therapy in February of this year. At the end of May, it was given to a child with Sanfilippo A.
Ryan and Brayden both suffer from Sanfilippo A, which made them candidates.
“We were so confident in what Tim and Dr. Fu were doing and I really felt like it was going to work,” Kapes said. “Then the announcement came and I thought this is it, my boys have a chance.”
There was one more step.
Children who are candidates need to be tested for the virus that carries the therapy. If children test positive for the virus, it means they carry an antibody that destroys the virus – and can’t receive the therapy.
Once again, Kapes was waiting for an important test result. And once again, his hopes were dashed.
“Ryan tested positive for the virus and that eliminates him from the trials,” Kapes said. “That was the lowest point of my life. You ride that roller-coaster of ‘OK, there’s no treatment,’ and then you fight for years, you get something together and think, ‘My kid has a chance,’ and then you get the news that your child can’t be treated. I was just like, ‘Are you kidding me?’ ”
Brayden did not test positive for the virus, but there is uncertainty about whether he will be chosen. As he waited for the decision, Kapes shifted his focus to raising more money for research that could help Ryan.
“You just gotta pick yourself up and move on,” Kapes said. “The thought of being depressed and sad wasn’t in the cards for me.”
He chose Mount Rainier in Washington state for his next challenge. With almost seven years of struggling every day to manage his boys’ disease, he thought he was better prepared for this climb.
“It was the most physically and emotionally exhausting thing I’ve ever done,” Kapes said. “Kilimanjaro was basically a long and challenging walk, but Rainier was steeper and we had to navigate rocky cliffs, snow-covered glaciers. And there was a real danger that you could fall into a crevasse.”
Kapes was joined on the 14,000-foot climb by Miller, the researcher; Mcllwain, with WMMR; and Lauren Harris, Mcllwain’s former co-worker. Over four days in August, the group ascended the mountain and experienced a changing landscape. Lush green trees and colorful ground cover disappeared; in their place were gray jagged rocks and sheets of glacier ice.
At nearly 12,000 feet, Mcllwain and Harris were unable to continue. Fatigued, sore and blistered, Kapes and Miller pressed on. Nearly four days after the journey began, the two shared an embrace in below-zero weather as the wind whipped across their faces.
“In that moment, all of my life flashed before my eyes with a rush of emotion and all of the physical pain just went away,” Kapes said. “My feet were blistered and my legs were hurting, but it was all worth it.”
Kapes said as he descended the mountain, he reflected on what he had accomplished. But, looking back on all of his fundraising efforts, he wasn’t sure how much more he could do. He also realized he had two big reasons to slow down.
Kapes and his second wife, Ashley, married in 2014 and welcomed a son, Bryce, earlier this year. Ashley had tested negative for Sanfilippo.
“I feel like it’s time to pass the torch to the families who are beginning their journey with the disease,” Kapes said. “I think we’ve put our stamp on this thing, and it’s gratifying. But I truly think that 10 years from now there will be a cure because of the fundraising by all of the Sanfilippo foundations.”
Brayden is losing control of his hands, and it makes eating a messy process.
Kapes stands at his dinner table feeding Brayden with a spoon while Ryan rocks in a chair nearby. “The Backyardigans” plays on a laptop as the boys watch. Brayden occasionally reacts to the show with a gleeful screech, and Ryan moans with a monotone rasp in his voice.
“To be honest, I’m not sure Ryan is going to benefit from the treatment, and my biggest fear is he will die from a seizure in his sleep,” he said. “But I think Brayden has a chance.”
On Oct. 14, Kevin Flanigan phoned to tell him that Brayden would not be included in the next set of clinical trials.
“I’m not sure I can pull myself up off the mat yet again,” Kapes said.
Flanigan explained that Nationwide Children’s Hospital would accept three children for the next round of trials who have not yet reached their developmental plateau. The therapy is expected to have the best results in children who are still gaining skills. Positive results, which the first trials showed, could mean that the drug will hit the open market quicker. Brayden plateaued over a year ago.
“Time is running out,” Kapes said. “I really thought if anyone was going to get their kid into the trials, it would be me. We’ve come all this way, and I spent seven years raising all of this money. It just felt like a slap in the face.”
The sadness in his voice was evident, and his usual upbeat tone was replaced with a mixture of anger and defeat.
But the father who climbed mountains in an effort to cure his boys would not stay down for long. A few days later, there was pep in his voice again. “I did all of this for my kids,” Kapes said, “but at the end of the day, I want to make sure that no parent has to deal with this.”
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