Raymond Huml is the father of two children diagnosed with a rare, progressive neuromuscular disease called facioscapulohumeral muscular dystrophy (FSHD). He is also vice president of medical and scientific strategy and head of the Rare Disease Consortium at Syneos Health. As such, Raymond Hurl’s professional and personal lives have often collided. In May 2023, he had the immense pleasure of seeing his son, Jon, graduate from Harvard University

By Raymond A Huml, MS, DVM, RAC

My name is Dr Raymond A Huml. I have not taken a traditional career path. Trained as a wildlife biologist and veterinarian, I have worked in the healthcare and biopharmaceutical industries for the last 35 years.

Over the last two decades, my professional life has slowly, but persistently, collided with my personal life because I have two children diagnosed with a rare, progressive neuromuscular disease called facioscapulohumeral muscular dystrophy (FSHD). The exact prevalence of FSHD is unknown. The total number of symptomatic persons with FSHD in the population may well be underestimated and a considerable number of affected individuals remain undiagnosed. FSHD is the most prevalent hereditary muscular dystrophy affecting men, women and children, according to the University of Massachusetts Medical School’s Wellstone Muscular Dystrophy Cooperative Research Center for FSHD.¹

FSHD has only recently attracted attention from the pharmaceutical industry, largely due to advances in understanding of the genetic mechanisms of disease, including overexpression of a protein encoded by the double homeobox 4 gene (DUX4). There is currently no disease-modifying treatment or cure for FSHD; however, growing numbers of companies and academic laboratories are pressing forward with early-stage drug development efforts for repurposed drugs and novel compounds that may slow or stop progression or add other benefit.

I currently serve as vice president of medical and scientific strategy and head of the Rare Disease Consortium at Syneos Health. I also serve as the founder and executive sponsor for our Persons with Disabilities Employee Resource Group, to raise awareness of disabilities in the workplace and decrease the stigma associated with disabilities. We hope to better utilise the skills of persons with disabilities, which comprise 1 out of 4 persons in the US, for the benefit of our company. On my electronic work signature, I inscribed the words “My leadership purpose is to increase awareness of how it feels to face mobility and other health-related challenges and advance inclusivity for all at Syneos Health.”

I work with internal colleagues, academic professionals, healthcare providers, patients, patient advocacy groups, sponsors and potential sponsors of rare disease candidate therapies, all with the primary goal of accelerating rare disease drug development. In addition, we seek to broaden the acceptance of clinical trials as a treatment option, increase rare disease patient enrollment and retention in clinical trials and broaden patient access to the therapies once approved by the regulators.

On a typical day, I will meet with colleagues to address requests for proposals (RFPs), requests for information (RFIs), collaborate for a bid defence meeting (when we pitch our solution to a customer or potential customer), contact a patient advocacy group (typically to better understand the patient journey), or jump on call with one of the myriad working groups I belong to, which include “The Forum for Collaborative Research: Bayesian Methods group” and “The Drug Information Association” and the “American Statistical Association’s Master Protocol Working Group”, just to name a few. I’m usually working on a survey, a poster presentation, an industry presentation or manuscript, which can take months and much collaboration to complete.

I have been in the contract research organisation (CRO) environment over 30 years, so I bring my medical writing experience, regulatory affairs experience, investment experience, biosimilars experience and rare disease experience to bear when crafting solutions for customers or potential customers. It is a fast-paced environment where one needs to keep a jam-packed Rolodex^™ of subject matter experts that may be tapped to address the complex challenges that rare disease drug developers face when trying to get their candidate therapies approved or reimbursed in the marketplace after approval.

I periodically get asked to provide feedback to the US FDA and have done this as a regulatory affairs professional, as a parent of children with a rare disease (for a FSHD Society-led patient focused drug development meeting), and more recently was identified by the Association of Clinical Research Organizations (ACRO) to talk with the FDA to discuss how to better accelerate rare disease drug development. Joining an FDA webinar forum last month, I was delighted that the lead author of a paper that I contributed to was asked by the FDA to discuss our ideas related to Bayesian methods, which highlighted their ever-increasing acceptance of complex innovative trial designs.

I have even tapped my children to help with the rare disease crusade and together we have influenced the neuromuscular community and published peer-reviewed articles, book chapters and even books. For example, in 2017, my daughter and I published a paper in the Journal for Clinical Studies entitled “The Growing Case for the Rapid Identification of Patients with Muscular Dystrophy for Clinical Trials”, which led to the Muscular Dystrophy Association (MDA) implementing their neuromuscular database called MOVR. We published how this innovative idea would work in 2018 in the same journal. The title of that manuscript was “Accelerating Therapeutic Advancements in Muscular Dystrophies through Shared Registry Platforms.” More recently, in November 2021, we all contributed to—and published—a Springer book entitled, “Rare Disease Drug Development: Clinical, Scientific, Patient and Caregiver Perspectives.”

In May 2023, I travelled to Boston, Massachusetts, to attend my son’s graduation from Harvard University’s School of Engineering and Applied Science, where he earned his Master of Science and Engineering degree in computational science. Only those who live with a rare disease, or with a loved one with a rare disease, know that the excitement and buzz over such a momentous achievement does not transparently reflect the effect of multiple hospital visits, weather battling, wheelchair repair delays—or the personal assistance and financial resources that such a feat requires. Jon’s success is a family success and a FSHD community success.

This weekend, my wife is travelling to Washington DC to pick up my daughter, Meredith, from the airport as she is now engaged to a great guy from Europe and was recently visiting with him. She serves as a part-time programme coordinator for “Youth Lead North Carolina.” Meredith has been a steady and reliable source of rare-disease related information, including US regulations, such as Social Security, as well as other benefit programmes like Medicaid and Medicare. She is quite knowledgeable about the mental health aspects of rare diseases and is a member of multiple private Facebook groups. She has also accompanied me as either a keynote speaker or panellist on Rare Disease Day for the last five years.

My children—and the entire rare disease community—inspire me and my entire family. We hope that our family can provide an inspiration to others living with rare diseases as well.

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