Raymond_Huml

@raymond_huml | contributor
Dr. Huml is a Returned Peace Corps Volunteer having served in Ghana, West Africa and sat for two terms on North Carolina State University’s Board of Visitors. He holds an MS in Biology from East Stroudsburg University and his DVM from North Carolina State University’s College of Veterinary Medicine and has earned the RAC (US) Certification. He currently lives in North Carolina with his wife Leslie. Their two adult children, Meredith and Jonathan, were both diagnosed with facioscapulohumeral muscular dystrophy (FSHD) as preteens.
Raymond_Huml

Our Family’s Odyssey With Facioscapulohumeral Muscular Dystrophy FSHD

When my wife Leslie and I decided to have children, we knew that becoming parents would change our lives forever. We felt prepared to put our energy into raising them and making sure that they had access to everything they needed to achieve their dreams. When both of our children were diagnosed with facioscapulohumeral muscular dystrophy (FHSD), a rare and progressive disease for which there are currently no approved treatments, our determination to help them find success and happiness grew even stronger. Upon reflecting on our family’s journey with FSHD, Leslie and I agree that hindsight is 20/20. Our daughter Meredith seemed physically healthy as a baby, but we remember noticing “quirks” that we now know can be attributed to FSHD. Her eyes would not close when she went to sleep, and she began attending speech therapy when she started kindergarten. She loved dancing and seemed to be improving until she was 12 years old. All of the sudden, she started slowing down and had to work harder to keep up with her peers. We decided to search for answers, beginning a long journey that brought us to specialists at top hospitals in our area including Duke University, the University of North Carolina, and Wake Forest University. After more than a year, she finally received the proper diagnosis. When our son Jonathan began exhibiting symptoms as an adolescent, we knew he was also living with FSHD. He was officially diagnosed before his 13th birthday. After Meredith’s diagnosis, we learned that FSHD is one of the most common forms of muscular dystrophy. It is characterized by skeletal muscle loss that usually begins in the face, shoulders, arms, and trunk but can eventually progress and cause weakness in the lower body as well. Many people with FSHD lose arm strength and range of motion in their shoulders, making it difficult to perform simple daily tasks, including brushing one’s hair, getting dressed, retrieving items from cabinets, and lifting objects. Some lose mobility and eventually progress to wheelchairs. Chronic pain and fatigue are also common effects of FSHD’s progression. While symptoms typically develop during patients’ late teens or early adult years, the disease also has an infantile form. After worsening scoliosis led Jonathan to undergo back surgery to stabilize his spine as a teenager, he lost his ability to walk and began using a motorized wheelchair. Meredith was in her mid-20s when she started using one regularly. After overcoming the initial wave of grief that came with Meredith and Jonathan’s diagnoses, Leslie and I began working to become experts in FSHD and advocates for our children. My career in drug development became focused specifically on rare diseases because of my unique understanding of the urgent need for treatment options for these patients. After benefitting greatly from the resources and expertise provided by the FSHD Society, Meredith and I decided to begin the North Carolina Chapter of the organization so we could network with others in our area. We have published multiple papers on FSHD and rare disease-related topics in The Journal for Clinical Studies and The Journal of Therapeutic Innovation & Regulatory Science. Meredith, Jonathan and I most recently contributed to two books published by Springer Publishing titled “Muscular Dystrophy: A Concise Guide” and “Rare Disease Drug Development: Clinical, Scientific, Patient & Caregiver Perspectives.” We are donating the proceeds from both books to the FSHD Society. There is no doubt that FSHD has turned our lives upside down, but it’s important to note that some of the changes it has made in our lives are positive ones. We have learned about the importance of having hope during challenges both large and small. We also feel blessed to have the opportunity to use our strengths and experiences to help others in similar situations. I am confident that sharing our family’s experiences will one day lead to effective and accessible treatment options that slow or stop the progression of the disease for members of the FSHD patient community. To learn more about FSHD and access support resources, visit the FSHD Society.

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