Mom raises $1M to fight disease that could kill her son
NASHVILLE, Tenn. (AP) – Every month for the past seven years, 11-year-old Case Hogan has been anesthetized and received a spinal tap to help slow the progression of a fatal genetic disease that affects roughly 2,000 children worldwide.
Case has Hunter Syndrome, a rare condition that causes the progressive loss of physical and mental function. It primarily affects boys, and most who have the disease don’t survive past their teen years.
Kids with Hunter Syndrome lack a particular enzyme that flushes out the waste produced by cells, especially those in the heart valves, airways and brain, said Melissa Hogan, Case’s mother.
“Those start to show problems as the waste builds up. You and I make that enzyme (that) takes out all that waste,” Hogan said. “They don’t, so it builds up in those cells. Imagine them getting fuller and fuller – and at some point, the cell dies.”
Despite the hundreds of needles and hospital stays Case has endured during his short life, he’s one of the lucky ones.
She started the nonprofit Project Alive four years ago to raise money for crucial research that could lead to a cure.
The nonprofit is in the midst of a fundraising campaign that seeks to generate the remaining $1.5 million needed to test a drug that researchers believe could cure the disease. It’s based on the premise that if 100,000 people donated $15, they could raise the money needed for the clinical trials.
Also known as MPS II, Hunter Syndrome is a subdivision of Mucopolysaccharidoses (MPS), a group of metabolic disorders.
Project Alive’s fund raising campaign runs until May 15 – National MPS Awareness Day.
But when her mother, a registered nurse, happened to watch an episode of the TV show “Mystery Diagnosis” that focused on Hunter Syndrome, she recognized many of Case’s seemingly unrelated symptoms and suggested he be tested for the disease.
“Within 24 hours, I read pretty much everything there was to read (about it), and came up with a list of 17 symptoms he had,” Hogan said.
Case was referred to a genetics specialist at Vanderbilt Medical Center, and he was officially diagnosed in 2009.
“I was devastated. The day before, you have a child who’s laughing and happy, and you have all these dreams for them. And a day later, they say he’s going to lose everything he can do, and then he’s going to die,” Hogan said.
With the help of enzyme injections, their faith and a strong network of support from other parents with children who have Hunter Syndrome, the Hogans have persevered for the past decade.
Last September, Melissa Hogan and her husband, Chris, appeared on an episode of the television show “The Doctors” to raise awareness about Hunter Syndrome.
Today, Case is like most other fifth graders. He attends Bethesda Elementary School and his favorite thing in the world is basketball.
He loves retired NBA player Charles Barkley, affectionately calling him “Charles Sparkley.”
And while he’s been receiving treatments for most of his life to help slow down the disease, his family still fears what the future may hold.
The prognosis of Hunter Syndrome is 100 percent fatal. Hogan calls it the “trio of death” that usually leads to complications with the brain, heart and airways.
“It’s usually one of those three things, or a combination of all of them,” she said. “For most of the children, they have neurological decline – like progressive dementia,” Hogan said.
Project Alive has already made tremendous progress, raising $1.1 million toward producing the gene vector needed for the clinical gene therapy trial. The program has also received approval from the Food and Drug Administration to begin the clinical trial.
If it’s funded, the trials will be held at Nationwide Children’s Hospital in Columbus, Ohio.
While there’s no cure for Hunter Syndrome, there are experimental treatments that help slow the disease’s progression.
Since he was two years old, Case has received an FDA-approved weekly infusion enzyme replacement therapy, which helps with some of the physical symptoms that often affect the heart and airway functions. That’s nearly 500 infusions, delivered via needle to a device that’s implanted underneath his skin that enters his bloodstream.
But even those infusions don’t help slow the disease’s effects on the brain.
Case was able to get into a clinical trial in 2010 that reformulated the enzyme infusion for the brain. He receives those treatments via spinal tap each month at Vanderbilt Children’s Hospital.
“He still has special needs and cognitive differences, (but) he has to keep getting this drug to not decline,” Hogan said.
Despite the treatments, Case still deals with complications brought on by Hunter Syndrome – stiff joints, hearing loss, carpal tunnel and hernias, to name a few. Case has had his adenoids removed three times because they keep growing back, which has added to his breathing problems.
And even though Case was among the roughly 70 kids selected for the treatments, Hogan hated knowing that other kids with Hunter Syndrome weren’t receiving it.
“In 2013, when there was a group of us four moms, and two of our kids got into this clinical trial and two did not, that’s when we decided to initiate gene therapy research,” Hogan said.
“We knew the technology was there to develop a cure…I just said, if we don’t do this, somebody’s not going to do it. I want it to be there someday for my kid, too.”
After contacting the researchers at Nationwide Children’s, where they had been testing gene therapy for a similar disease, Hogan formed Project Alive in 2014 and has worked to raise the money needed to test therapies for Hunter Syndrome.
The trial is designed to treat nine children, though Case won’t be one of them.
“(It’s) designed to be a one-time treatment. It’s injecting a corrected version of that genetic material,” Hogan said.
If they raise the remaining $1.5 million needed, the researchers will be able to move forward with the trials.
Reach Elaina Sauber at [email protected], 615-571-1172 or follow @ElainaSauber on Twitter.
Information from: The Tennessean, //www.tennessean.com
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