In honor of Rare Disease Day 2020 (February 29), I took a look at the portrayal of people with rare diseases on a trio of my favorite TV shows.
Rare diseases aren’t all that rare, outnumbering people with AIDS or cancer. But on TV, regular or recurring characters with rare conditions – not the “disease-of-the-week” – are scarce.
One in ten of us have a rare disease, adding up to 400 million people worldwide, according to Global Genes. Some other stats:
- 1 in 2 people with a rare illness is a child, and 3 in 10 of them won’t live beyond age 5
- 8 in 10 of the 7000+ rare diseases are due to mutation
- 95% of rare diseases do not have FDA-approved treatment
A major character on Netflix’s Stranger Things, Dustin Henderson (played by Gaten Matarazzo III), has cleidocranial dysplasia (CCD), which affects the bones and teeth.
Stranger Things takes place in the early 1980s. It’s a nostalgic coming-of-age story set in Hawkins, Indiana, involving a monster Demogorgon, a government conspiracy with evil scientists, a weird girl named Eleven, and an alternate universe that the group of teens at the center of it all call the Upside Down (see The Biology of Stranger Things).
Gaten has played core character Dustin right from the start, and during the first season, the media widely reported on his charm and talent – and his unusual appearance due to CCD. The condition is known to affect only one in a million individuals, but is so variable that many others probably don’t know they have it.
CCD causes a spectrum of abnormalities. Gaten has underdeveloped teeth and collarbones, and has had numerous surgeries. People with the syndrome may also have stunted thin fingers, broad thumbs, flat feet, knock knees, short shoulder blades, a curved spine, and brittle bones. The face is sometimes distinctive, with a prominent forehead; wide-set eyes, small upper jaw, and flat nose.
About two-thirds of cases are due to mutation in the RUNX2 gene, which controls bone, cartilage, and tooth development. It is either inherited from a parent, who may or may not have been diagnosed, or arises as a new mutation. The other cases are presumably due to mutations in other genes.
The popularity of Stranger Things in general, and Gaten Matarazzo in particular, has dramatically increased public awareness of his very rare disease. So recently a trio of medical students at Oklahoma State University in Tulsa decided to explore the metrics of exactly how much. They published their findings last week in JAMA Otolaryngology-Head & Neck Surgery, which the media widely picked up from news releases, as did I.
First author Austin Johnson got the idea to track the effect of Stranger Things on awareness of CCD while studying one night with the show on in the background, noting that Dustin (Gaten) was explaining his disorder. “So I googled, ‘What is cleidocranial dysplasia?’ I read a few lines but I didn’t think much of it until later that week, when I wondered how many other people had conducted that exact same search. As I dove deeper, I realized that a trend was occurring with potentially big implications. We measured the effects of CCD awareness after the release of a TV series with one of the lead characters with this disorder.”
The students used Google Trends to analyze interest in CCD timed to the release dates of each of the three seasons of Stranger Things, covering July 20, 2014 until July 16, 2019. They also monitored website traffic and call volume following the dropping of new seasons at foundations related to the disease: Children’s Craniofacial Foundation, AboutKidsHealth, and FACES: The National Craniofacial Association.
Results were dramatic. Increase in searching for CCD rose 11.2% after season 1, 12.9% after season 2, and a whopping 94.4% after release of season 3.
Most astonishing was traffic to AboutKidsHealth, which quantified their website-views-per-week. Before Stranger Things, the website got only 5 to 80 views related to CCD a week. But the week after season 3 dropped, the traffic rose to 10,000 visits!
Gaten continues his activism outside of the studio. He and his family and Kelly Wosnik, PhD, a nurse practitioner, founded CCD Smiles in 2017. She has CCD from a new mutation and spent much of her childhood and adolescence getting teeth pulled – baby teeth tend to hang around.
Johnson applauds the directors of Stranger Things, and Gaten, for incorporating CCD into a “widely popular Netflix Original TV series,” and CCD-related foundations for using the uptick in awareness to enhance the quality of life for those who have CCD. “The series could have chosen to hide the disorder, but instead brought it to light. Additionally, this show isn’t about medicine and doesn’t even focus on rare diseases, yet it was able to have a huge impact on the CCD community,” he told me.
The Strangeness of House, MD
House, MD, ran from 2004 to 2012 on Fox TV, and centered around the acerbic, annoying, and opioid-addicted Dr. Gregory House and his staff. Kudos to them for giving regular character Thirteen (Olivia Wilde), who debuted in season 4, a family history of and mutation for Huntington’s Disease, putting her in the disturbing camp of the “pre-manifest” after she’s tested.
The disease-of-the-week rosters throughout the eight seasons of House focused more on infections, toxins, and birth defects, with bizarre problems thrown in: food stuck in various anatomical places, allergy to tattoo ink, cockroach in the ear, a swallowed magnet, extra spleens, and “insertion of a large number of pins through the skull and into the brain shortly after birth.”
Of 176 total episodes, 20 dealt with rare diseases, not far off, at 11%, from the percent of the population with rare conditions.
The list included: blood/immune disorders (three forms of porphyria, hemochromatosis, hereditary angioedema, sickle cell disease, chronic granulomatous disease, telangiectasia, Wiskott-Aldrich syndrome), tumor conditions (von Hippel-Lindau syndrome, tuberous sclerosis), enzyme deficiencies (Fabry disease, OTC deficiency), kidney disorders (Alport syndrome and familial Mediterranean fever), a connective tissue condition (Ehlers-Danlos syndrome), the multi-system Muckle-Wells syndrome, copper-build-up (Wilson’s disease), and a mitochondrial disorder, MERRF.
I miss Dr. House.
Call the Midwife: The Best, Rare Disease in Context
Stranger Things is fanciful/sci-fi, and House a quirky drama filled with absurdity, like doing a bone marrow transplant a few hours after figuring out that a patient needs one. Dr. House would bellow an idea, no matter how idiotic, and his minions would carry it out, experimenting with glee on their hapless patients.
More down to earth is the always-excellent Call the Midwife, soon to start its ninth season on PBS, from BBC.
Call the Midwife is about much more than birthing babies. It follows the professional lives of the midwives, nuns, and nurses who live at the convent Nonnatus House in Poplar, a poor area of London’s East End, and a wonderful general practitioner, Dr. Turner. The series, set from the mid 1950s through the mid 1960s, is based on the memoirs of nurse Jennifer Worth. It captures the best of the other two series, as far as rare diseases go.
Like House, the plots occasionally involve genetic diseases. An episode about Huntington’s Disease mentioned the exceedingly rare and heartbreaking juvenile form, which I wrote about here. Another episode told the story of a family from Ghana with sickle cell disease, and another about osteogenesis imperfecta being mistaken for child abuse. OI can begin breaking bones before birth. That was back when only one gene was implicated. Parents who carried mutations in the other seven genes indeed were accused and sometimes punished for child abuse.
My favorite depiction of a genetic disease was the season 3 opener about a baby with cystic fibrosis (CF), which I posted about here.
Before gene sequencing revealed 1700+ mutations behind CF, all the medical staff in Poplar had to go on were the symptoms: weight loss, distress, clubbed fingers, abdominal pain, recurrent infections and fevers, and foul-smelling loose stools. Both baby Ian and his toddler brother Martin choked on thick phlegm. And their father’s brother had died at age 4, never diagnosed – a key clue.
Astute Sister Monica Joan, whom everyone had dismissed as suffering from dementia, noted the salty taste to Ian’s brow, ran upstairs to the books that she spent her days meticulously cataloging, and came back down. With a sly smile, she quoted “from Queen Anne’s time, the 1600s, from northern European folklore, “Woe to that child which when kissed on the forehead tastes salty. He is bewitched and soon must die.” She nailed the diagnosis of cystic fibrosis.
Call the Midwife is also like Stranger Things in having a semi-regular character who has a genetic condition, this one chromosomal and not single-gene. Reggie Jackson, played by Daniel Laurie, comes to Poplar to live with cousin Fred Buckle and his wife Violet, in season 6 after his mother dies. Reggie, and Daniel, have Down syndrome. His portrayal reveals the day-to-day challenges of having Down syndrome, yet at the same time, the many ways in which Reggie is like any other young man.
Too many TV shows and films are full of impossibly beautiful characters. Let’s see more inclusive casting. Gaten Matarazzo’s, Dustin Henderson is a great example.