Muscular Dystrophy

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.

A new report by GLAAD found that the number of series regular characters with disabilities counted on primetime broadcast TV decreased, down to 2.8% (22 of 775) from a record high of 3.5% last year and 3.1% the year before. The number of characters counted also fell, from 27 to 22. Since Variety VIP+ reports that Americans spent 4.6 hours a day watching video on streaming services and traditional TV in 2021, this representation is vitally important to how people see – or do not see – disabled individuals in society. “Including a disabled character does not happen by accident,” said Lauren Appelbaum, RespectAbility’s VP of Communications and Entertainment and News Media. “Inclusion of disabled people must be an intentional effort. What we see on screen influences how we act in real life. Thus, when studios make the decision to include individuals with disabilities, they are helping to remove the stigmas that currently exist about interacting with us.” As stated in the report, “This number falls far below the actual number of those with disabilities in the United States,” as more than 20 percent of people in the U.S. have a disability. While the numbers in this report are abysmally low, it is important to note that the GLAAD report is based on self-reporting by the networks and content providers. “While the reported numbers have gone down, it also is likely these numbers are underreported, possibly because the industry is not tracking disability internally as much as other demographics,” added Appelbaum. “Even so, the representation of disabled characters on our screens is nowhere near representative of disabled individuals in society today.” Examining the Numbers in the Report GLAAD’s 2021-2022 Where We Are on TV Report includes the only analysis of primetime scripted series regulars on broadcast networks of characters with disabilities. Largely known for tracking the number of LGBTQ+ characters on broadcast and cable networks, as well as streaming services, the Where We Are on TV Report also tracks racial, gender, and disability inclusion on television. GLAAD looked at 775 series regular characters expected to appear on scripted broadcast primetime programming broadcast on ABC, CBS, The CW, FOX, and NBC. Counts are based on original scripted series premiering or which are expected to premiere a new season in primetime between June 1, 2021 and May 31, 2022, and for which casting has been announced or confirmed by networks. The report finds that NBC once again leads the broadcast networks in representing disabled characters, counting 14 regular characters (10% of the network’s series regulars) who have a disability this season. However, this is a sharp decrease from last year’s high of characters. Many of these characters are played by actors without the disabilities the character has. One authentically cast character among the 14 characters counted is Izzy Harris (played by Zyra Gorecki, an amputee) on “Le Brea,” which also has been renewed for next year. While the report includes a recurring gay character on “Ordinary Joe” who is living with HIV, the report does not include series regular John Gluck, a 13-year-old actor who plays the lead character’s son. Gluck, who is a wheelchair user, has muscular dystrophy in real life, and his character is a wheelchair user in the series. The lack of inclusion of Gluck points to the reality that studios may not have known enough to share all its disabled characters with GLAAD for inclusion in this report. The report includes four series regular disabled characters from ABC, while the CW has two. However, none of these actors have the disabilities their characters represent. While CBS and FOX each reported just one regular character with a disability, both of these characters are cast authentically: CBS’s “NCIS: Los Angeles'” Hetty Lange (played by Linda Hunt) has dwarfism and Christopher Diaz (played by Gavin McHugh) on FOX’s “9-1-1” has cerebral palsy. There is an increased representation of characters with nonvisible disabilities, including addiction, anxiety, cancer, depression, diabetes, learning disabilities, and PTSD. For example, ABC’s “The Rookie” adds another dimension to the character of Officer Tim Bradford (Eric Winter), a highly regarded police officer, when viewers learn he has a learning disability. This casual inclusion of disability helps viewers understand that this is a common disability and helps lessen the stigma around having a learning disability and seeking assistance in learning in different ways (in this case, an audiobook). Spotlight on Cable and Streaming The report also looks at LGBTQ+ characters with a disability on cable and found five (4 percent), a decrease from eight characters and 7 percent. These include two characters who are amputees (AMC’s “The Walking Dead” and Showtime’s “Yellowjackets”), but neither of these actors are amputees themselves. In addition, Sam from Freeform’s “Single Drunk Female”and Rue on HBO’s “Euphoria” both have addiction. One character on cable to highlight is Maribel from Showtime’s “The L Word: Generation Q,” who has muscular dystrophy. It is important to note that Maribel was authentically cast, and is played by Jillian Mercado. Also on Showtime, but not included in this report’s count, is “Dexter: New Blood,” which featured bilateral above knee amputee Katy Sullivan as Ester. Also worth noting is that one of “Dexter: New Blood’s” writers was Marc Muszynski, a writer with low vision. The report also finds five disabled LGBTQ+ characters in streaming originals, which is up from one last year. However, while the report tracks LGBTQ+ regular and recurring characters on scripted original series on Amazon, Apple TV+, Disney+, HBO Max, Hulu, Netflix, Paramount+, and Peacock, it does not yet track those with disabilities that are not also LGBTQ+. No other report tracks this data either. According to Variety VIP+, streaming now accounts for more than half (51.5%) of all original series in the U.S., up from 12.9% in 2016. “While broadcast TV remains far behind in disability representation, there is a lot more disability-inclusive content to see on streamers, which are not yet tracked in any formal report,” said Tatiana Lee, RespectAbility’s Senior Associate for Entertainment Media. “Anecdotally speaking, streamers are more likely to cast authentically as well.” Several examples include Disney+’s “Hawkeye,” which includes a deaf character, Maya, authentically played by Deaf actress Alaqua Cox, as well as Clint Barton (Hawkeye) as a Hard of Hearing character; HBO Max’s “The Sex Lives of College Girls,” which features Lauren “Lolo” Spencer, who was diagnosed with ALS when she was 14 years old; and Netflix’s “YOU,” which cast Ben Mehl, who has low vision, to play blind character Dante. Increasing Disability Inclusion in Television Leads to Real-Life Results With Hollywood striving to boost diversity and inclusion, opening the inclusion umbrella for America’s largest minority – the one-in-four Americans with a disability – is the right thing to do as well as economically smart given that the disability market is valued at more than $1 trillion. Gail Williamson is a talent agent for Kazarian/Measures/Ruskin and Associates (KMR), leading their Diversity Department, seeking out the right roles for talented actors with disabilities. KMR’s clients include Lauren “Lolo” Spencer, as mentioned above. “While the report shows a decrease in series regular roles for characters with disabilities, I believe with more platforms and diversified content, the number of working actors with disabilities has greatly increased,” Williamson said. “From my experience, I predict the number of actors with disabilities playing series regular roles will increase in the coming seasons. Perhaps the greatest accomplishment that is not measured is the number of recurring, supporting and co-star roles that are now being cast with actors with disabilities. In the past, actors with disabilities were usually only invited into the casting office for roles when a lead character had a disability and that disability moved the story forward. Today we get calls at KMR for talent with disabilities to play smaller roles that have nothing to do with their disability. We are finally starting to see ‘full inclusion’ as it is in life. This also gives the actor with a disability the opportunity to grow in their craft as all other actors do, coming up the ranks, rather than just getting looked at for lead roles, that they are sometimes not prepared for since they haven’t had the supporting role experience. We are definitely making progress.” People with disabilities lack adequate access to healthcare, education, and employment opportunities. Depictions of disability should be focused on the abilities and contributions of people with disabilities, not just the disability. Additionally, even simple inclusion in crowd scenes is important. This is especially critical for the 22 million working-age Americans with disabilities, of which only one-in-three has a job. Diversity and inclusion processes that include disability are needed inside networks and studios so authentic portrayals become natural and consistent. A Lab for entertainment professionals with disabilities is aiming to do just that. Organized by the nonprofit RespectAbility, the 2019, 2020, and 2021 Labs already have helped place more than 30 alumni into jobs at studios that hosted the group, including Nickelodeon, Paramount Pictures, Sony Pictures Entertainment, and The Walt Disney Company. Others have found work in writers’ rooms for Netflix’s “Mech Cadet,” CW’s “4400,” and Showtime’s “Dexter,” among others, while several have had films featured at festivals such as SXSW and participated in additional career track programs including with Film Independent and Sundance Institute. “Progress toward authentic disability representation on the screen begins behind the camera,” said RespectAbility board member Delbert Whetter, a veteran film executive and producer who is deaf. “Only by including people with disabilities in the spaces where creative and business decisions are made, will we begin to see concrete results on screen. We’ve noticed a perceptible uptick of studio interest and enthusiasm for disability representation, which makes it all the more essential that the right tools and authentic points of view are available to creators, writers and producers who can benefit from them.” The entire report may be downloaded from GLAAD’s website.

Over the summer, I contacted the boys’ pediatrician to get her advice about sending them back to school this fall since our youngest was not old enough to be vaccinated. Her nurse responded that they recommend all kids to attend school in person this fall unless they are high risk. Since our boys fall into the high-risk category, she told me to contact their specialists. This past spring, an acquaintance (and pediatrician) ranted on social media that all kids should be back in school immediately since they were less affected by COVID-19 (this was before the Delta variant) and their mental health was suffering. I pointed out to him that we had chosen to keep our boys home for the entire year, because though their mental health was suffering, we didn’t feel we could risk their physical health. He told me we were in a unique situation and he was speaking for the majority of children. Early in the pandemic, when many states had enforced lockdowns, someone posted a meme on social media that said people who wanted to could stay home to protect themselves from the virus. It’s a free country, it said, and we have the right to choose self-quarantine. I explained that it didn’t feel like a choice or freedom to stay home for us. I didn’t get a response. The pandemic has made our family and others like us feel like a constant exception. The asterisk to the general rule. One of the things that’s not like the others. A small minority. This feeling isn’t new for us. Rare disease families and people with disabilities have experienced this “otherness” for a long time, way before the global pandemic. It’s felt when a highly-rated restaurant isn’t accessible so a person who uses a wheelchair can’t enjoy a nice dinner with friends. It’s felt when parents are told their child isn’t welcome at a school, because they couldn’t possibly provide for the child’s needs. It’s felt when an employer won’t hire a qualified, talented, and hard-working person who happens to have a disability because they think the person will be a liability. It’s felt when a church refuses to enforce any precautions against COVID-19 and doesn’t offer a virtual option so the family whose child recently had a kidney transplant can’t participate in a faith community that is important to them. I understand the inclination to make decisions based on the majority. But consider this: One in 10 Americans is affected by a rare disease. That’s about 30 million Americans. In the U.S., 61 million (one in four) adults live with a disability. In 2019, it was recorded that over three million children (4.3% of the under-18 population) in the United States had a disability. In addition, the U.S. has long been plagued with unequal access to health care, especially among people of color and people with a disability. Add people who are affected to common diseases such as heart disease or certain types of cancer and the group of people who can be considered “high risk” doesn’t seem so small anymore. Perhaps we need to stop thinking about these groups as anomalies and recognize their needs are greater than we can see from our limited view. Ultimately I hope you remember that these “exceptions” are people, families, human beings who are worthy of everything life has to offer. They don’t need or want to be pitied. They just want an opportunity to participate as a full member of society. Our family has decided to venture out into the world again. The boys will be attending in-person school. My husband and I are going back to the office. Not because the boys are no longer at risk for COVID, but because we cannot lock ourselves in our house forever. We are, of course, nervous about this decision but we will do our best to mitigate their risk of infection. If I’ve learned anything in the past year and a half, it is this: I cannot depend on other people to protect the health and well-being of my children. It’s a horribly cynical way to live, but here we are.