Florida couple seeks cure for grandson’s rare dystrophy
Palm Beach grandparents Don and Nancy Herzog are battling the clock to defeat a foe that threatens their 4-year-old grandson – a progressive disease called Duchenne muscular dystrophy that takes aim at children.
Duchenne is a disease in which a gene responsible for regenerating muscles has been compromised, interfering with normal childhood muscle development. Over time, Duchenne patients weaken and they eventually lose the ability to walk. The disease is fatal.
The fortunes of their grandson, Max — one of the Herzogs’ five grandchildren — took an abrupt turn when he was still an infant after a routine blood test showed elevated liver enzymes, which can mean possible damage to the heart muscle.
“I Googled it, and it said muscular dystrophy,” said Nancy, a nurse. “And I said, ‘Oh my God.’
“It was right after Christmas that the doctor said he had muscular dystrophy. Other than that, he just looked like a beautiful 6-month-old baby.”
But there has been a glimmer of hope since the Herzogs’ son, Jesse — Max’s father — was referred by a business acquaintance to the head of a nonprofit biotech organization that helps develop “custom therapeutics” called Cure Rare Disease (CRD). They have been working with founder Rich Horgan, and raising money for the cause.
Horgan launched the organization, an affiliation of activists, clinicians and researchers, because he has a younger brother with Duchenne. CRD also is working on finding a treatment for Limb-girdle muscular dystrophy and plans to tackle cystic fibrosis.
Don said the family, which is based in Connecticut — Don and Nancy are seasonal Palm Beach residents — is optimistic that an innovative therapy can be found in time to short-circuit the devastating illness.
“We have to be optimistic, because the only hope we had prior to Rich coming into our lives was to just go about your business and let life take its course with Max,” he said. “And that's not who we are. We're not one to sit back and let life go by.
"Our job is to raise awareness and money for Cure Rare Disease so we can find a cure for Max and all the other young boys with this dreadful disease."
One issue faced by those battling diseases like Duchenne is that the pharmaceutical industry tends to focus on treatments for illnesses that impact higher numbers of patients. Although research is taking place — an announcement was made in January by a German university that a procedure had been successfully used in pigs to treat Duchenne — the financial rewards aren’t as great for more intensive, widespread research.
“Industry develops therapeutics for as many people as possible,” Horgan said in a phone interview from his office in Boston. “The difficulty with Duchenne is that because the disease is so different from person to person, it becomes very challenging to develop a one-size-fits-all solution.”
There are 15,000 boys and young men in the U.S. with Duchenne, which mostly affects males. And with many different variations of the disease, "it makes it very difficult to fix everybody with one shot. What we're trying to do is tailor the therapy to the specific gene mutation," he said.
Researchers associated with CRD reported success last spring when they corrected cells from Horgan’s brother in a petri dish. "Now we're trying to figure out how much of this do we give, and how safe is it? With Max we're following the same process."
Horgan said he believes the process of gene repair could be tried on his brother, age 24, late this year, pending approval from the FDA. "We’re moving full-speed ahead."
Raising money to get to that point is job number one for the Herzogs. The money, said Horgan, “goes into a common bucket. The end goal is to show that this works in a few patients and then convince insurance companies to cover it.”
Generating funding for research into and treatment of Duchenne and other rare diseases may be as challenging as the science itself. Gene therapy is expensive, and Horgan estimates that the cost of treating one patient will be about $2.5 million.
"The unfortunate truth," Horgan said, "Is that many of these people will never be treated because the populations are too small. It's up to the collaboration between for-profits and not-for-profits to try to drive this forward. We're trying to encourage larger drug companies to come into this fight. Drug companies aren’t set up to do this, but they are watching."
The Herzogs want to see the research become more high profile and are trying to get the word out. To learn more about the organization, visit cureraredisease.org. Last year, over a six-week period, they raised more than $375,000 at an event at their country club in Branford, Connecticut, Don Herzog said.
"The outpouring of love and support has just been enormous. It's our hope that we can do the same thing in Palm Beach," he said.
This story originally published to palmbeachpost.com, and was shared to other Florida newspapers in the new Gannett Media network.