Father-daughter Duo Double Up to Find FSHD, Rare Disease Cures

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by Hawken Miller |

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FSHD | Muscular Dystrophy News | rare diseases | image of Raymond and Meredith Huml

Raymond and Meredith Huml. (Photo by Leslie Wile Huml)

When his daughter, Meredith Huml, was diagnosed — finally — with facioscapulohumeral (FSHD) muscular dystrophy in 2004, Raymond Huml immediately jumped into action, researching everything he could about the disease and reaching out to the FSHD Society.

“We went to the FSHD Society and looked up what they had,” Raymond Huml said in a video interview with Muscular Dystrophy News from his home in Morrisville, North Carolina. “And I memorized everything on that site.”

He later discovered that his son, Jonathan, six years younger than Meredith, shared the same diagnosis.

With the help of Meredith Huml, now 29, Raymond Huml has published numerous papers and books about FSHD, muscular dystrophy types, and most recently, rare disease clinical development. In addition, at his company Syneos Health, where he serves as vice president of medical and scientific management, he leads the Rare Disease Consortium and is executive sponsor of the people with disabilities employee resource group.

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The elder Huml published his latest reference book, “Rare Disease Drug Development: Clinical Scientific, Patient, and Caregiver Perspectives,” on Nov. 9. He wrote or co-wrote three of its 25 chapters, and the rest were drafted by members of other patient communities.

The book came out of one of his goals at his relatively new position at Syneos Health, to increase the company’s brand awareness and attempt to bring together seemingly disparate groups — doctors, patients, caregivers, biotech executives — under one roof. But unlike in his other, more technical books, Raymond Huml wanted to add more of the patient perspective. He accomplished that by asking an artist to draw one rare disease patient for each chapter.

“I thought, ‘I want to put a human face on this. I don’t want it to be about this percentage and that percentage. I want it to be about people,’” he said.

Raymond Huml initially put a majority of his time specifically to FSHD awareness, advocacy, and research, partly by starting the North Carolina chapter of the FSHD Society with his daughter, who serves as chapter director, in 2018. Now he’s made it a personal goal to get rare disease patients more involved in drug development and find as many cures as possible for the more than 7,000 rare diseases.

He said it’s a good return on investment for biotech companies to take a closer look at feedback from the patients who will be the end user. In his role at Syneos Health, Raymond Huml also helps businesses run clinical trials.

In one example, he discovered a final study design for a type of muscular dystrophy that initially needed eight muscle biopsies to check progression. At the same time, Raymond Huml had heard from patients who were worried about giving up too much muscle that was already deteriorating. It turned out that in further conversations with the company, he discovered two biopsies would have accomplished their goal just as well. That’s part of his goal of convincing biotech companies that it’s good for everyone involved to have the patient perspective as early as possible in clinical trial development.

Raymond Huml first wanted to pursue a career in wildlife biology, and he had never expected to get into the biotech industry, specifically a contract research organization (CRO), which helps pharmaceutical companies through the drug development process.

He entered into the professional world as a veterinarian, knowing that it could open doors down the line. While he was studying to be a veterinarian, his wife, Leslie, began working for Quintiles, the first-ever CRO.

Thanks to his wife, Raymond Huml got a part-time job at Quintiles during the summers while in veterinary school. Soon after school, he found out he was allergic to cats. That, coupled with a desire for a change in pace, led him to join Quintiles full time. He started in medical writing and then moved on to drafting new drug applications.

“So I got into the contract research organization, and I said I’d stay about one to three years, and that was over 30 years ago,” Raymond Huml said.

When his daughter was diagnosed with FSHD, he developed a personal mission to find a cure for FSHD and other rare diseases.

It took quite awhile for Meredith Huml to get her final diagnosis. She first started having problems lifting her sweater off her head. In ninth grade couldn’t keep up with her competitive dance peers and began falling. That’s when Raymond Huml knew something was wrong.

He and his wife took his daughter to several local universities in the North Carolina area, but received only a tentative and incorrect diagnosis. At the time there was no genetic test for FSHD. Eventually, when Meredith Huml was 12, she was diagnosed with FSHD at Duke University.

Raymond Huml quickly connected with the FSHD Society and became friends with Carol Perez, the mother of Dan Perez, who started the nonprofit with another patient in 1991. In conversations with Carol Perez and seeing firsthand the lack of knowledge about the disease — even with their own doctors — Raymond Huml decided in 2014 they would write a book not just about FSHD, but all muscular dystrophies. He asked his daughter to write a chapter about U.S. patient advocacy groups.

The book, “Muscular Dystrophy: A Concise Guide,” was published in 2015 by Springer. As of Dec. 21, the eBook has been downloaded just shy of 30,000 times. Raymond Huml wanted the reference textbook to be given away free at MDA Care Centers and Affiliates, but the organization couldn’t procure the funding for it.

Acceptance, advocacy

Including part of her personal story in the chapter was a turning point for Meredith Huml in her involvement in the FSHD community. Up until then, she had not been very involved in FSHD as it was a difficult diagnosis for her to accept.

“I honestly wasn’t even able to say FSHD for a while without crying,” she said. But it was the passion she saw in her father that made her say yes to writing about her own diagnosis. “After that, I really kind of got more invested in it and realized that I can help out other people.”

Since then, Meredith Huml has penned a number of blogs for the FSHD Society and has connected with other young women through social media.

“There’s so many different, weird, complex emotions that come up … especially when it’s [FSHD] progressive and you don’t really know what’s happening next,” she said.

In addition to volunteering for the FSHD Society, Meredith Huml works as a communications assistant for Disability Rights North Carolina, a federally mandated nonprofit that helps people with disabilities secure quality education, find jobs, and obtain public accommodations.

Throughout his career in the CRO and biotech industry, Raymond Huml has published more than 80 books, papers, or articles on topics such as due diligence, regulatory affairs, drug development, and business. That includes editing and writing parts of his most recent “Rare Disease Drug Development” reference book, the proceeds of which will go to the FSHD Society.

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After the muscular dystrophy book, Raymond and Meredith Huml wanted to get more involved in FSHD. They started hosting meetings with patients, family, and caregivers of those with FSHD three to four times a year in local churches. Then the group moved to fundraising, and the chapter was officially formalized.

There isn’t a treatment for FSHD, but the Humls are doing their best to raise money so that all muscular dystrophies eventually will be eradicated. The chapter’s latest event, North Carolina Virtual Walk & Roll, netted more than $1,000 in September to contribute to the FSHD Society’s grand total of $820,000.

Meredith Huml attended an externally led Patient-Focused Drug Development Meeting for FSHD in April 2020 to explain her personal experience living with the disease and to help “get it on the map” for a future treatment, she said. Her father hopes that day comes soon, and not just for FSHD.

“The thing that keeps me up at night is not having a cure for every person who has muscular dystrophy. And it doesn’t matter if it’s FSHD or it’s Duchenne or limb-girdle or oculopharyngeal or myotonic,” Raymond Huml said. “I dislike all of them equally, and I would like to get a cure for them.”