In a multi-episode arc on "Grey's Anatomy," actor Scott Foley plays a von Hippel-Lindau (VHL) patient, diagnosed with a dangerous adrenal tumor.
Doctors at the ABC show's fictional hospital, Seattle Grace, know that the tumor needs to be removed, as it can cause sudden bursts of adrenaline at random intervals, leading to panic attacks, racing heart beats, high blood pressure, heart attack or stroke. But the patient has maxed out his insurance.
"Something we've wanted to do on 'Grey's' is portray someone living with a chronic disease instead of dying from one," Dr. Zoanne Clack, co-executive producer of "Grey's Anatomy," wrote in an e-mail to ABC News. "We wanted to show that a patient living with chronic disease can be just as full of life, just as 'normal' as someone who doesn't live with one, but obviously has different issues and concerns."
So far, Joyce Graff, executive director of the VHL Family Alliance, is pleased with the portrayal of the rare disease.
"It's an interesting premise, and so far has been presented in an accurate and fair way," said Graff. "I like how they're giving us time to get to know this guy and really like him."
Patients and advocacy groups say it can be difficult to gain awareness for rare diseases, and television medical dramas can play an important role in teaching the public about them.
According to the National Organization for Rare Disorders (NORD), a rare disease is one that affects fewer than 200,000 Americans at any one time.
There are between 6,000 and 7,000 rare diseases that, together, affect from 25 to 30 million Americans.
VHL, the condition featured on "Grey's Anatomy," is a genetic cancer condition that causes tumors in areas of the body that are rich in blood vessels, such as the eye, kidney, pancreas and spinal cord.
About one in 32,000 people in the world have been diagnosed with the disease. Twenty percent of those cases are new mutations, while 80 percent are children of parents who also had VHL. Most VHL patients will have symptoms of the disease in their teens and 20s.
Rare Disease on TV
While Graff, of the VHL Family Alliance, has never pitched a television show, Clack, of "Grey's Anatomy," said that the idea is not totally out of the question.
"It's a case-by-case basis," said Clack. "In general, the storylines are based completely on the writers' research and stories that will benefit our characters. As part of that research, we are interested in real stories from real people.
"While we don't solicit pitches, we contact groups for further information on current stories," Clack added.
Beth Smith, a 32-year-old mother of three living with VHL, is a real-life VHL patient.
"I like when VHL is featured on TV shows and in the news," said Smith, who currently has three tumors on her brain, one on her pancreas and one on her kidney. "We need all the positive publicity we can get to raise awareness and money for the disease."
At the beginning of each season, Clack said that producers gather up interesting real-life medical cases and diseases. As the real-life doctor in the background of the television show, Clack said she has studied many conditions that doctors will read about but never see in their lifetimes.
"VHL is one of those syndromes," said Clack. "We thought it would be interesting to have a long-term arc with someone who was going through it."
Mary Dunkle, vice president of communications at NORD, said that rare disease portrayals on these television shows are exciting, partly because the exposure could lead to research funding and raise awareness in the medical community, but also because patients can feel isolated with a rare disease, and they want others to understand their condition.
"These shows can even help with the way children get handled through the schools," said Dunkle. "If school nurses and administrators have seen a program about a disorder and they happen to have a child with that disorder, they tend to be more understanding."
Educators Rather Than Entertainers
NORD occasionally receives phone calls from television producers who are in search of information for medical dramas such as "Grey's Anatomy," "House," "Boston Med" and Discovery's "Mystery Diagnosis," said Dunkle.
"It really seems like producers and show writers are really trying to do a good job in getting the facts straight on rare disease," said Dunkle. "In my experiences, it seems that they often think of themselves as educators rather than entertainers."
Whenever possible, "Grey's Anatomy" producers speak to the foremost expert on the rare disease that will be featured on the episode. They also touch base with an organization called Hollywood, Health and Society, which assists in connecting TV producers with medical experts.
"Or, if we've found a particular case, we try to speak to the actual doctors that performed the surgery or did the treatment we read about," said Clack.
Dr. Stephen Groft, director of the Office of Rare Disease Research (ORDR) at the National Institutes of Health, said that his office also has been contacted by various shows. The office acts as the facilitator, guiding television show producers to specific advocacy groups and researchers receiving NIH funding for a specific illness or condition.
"The level of interest in rare diseases seems to have increased," said Groft. "Whether it's the media bringing more attention to the television shows or there is more of a presence on the Web, there have been more and more rare diseases being talked about these days."
On MedPage Today's partner site, KevinMD.com, VHL Family Alliance's Graff recently expressed her concern about the misrepresentation of conditions in medical shows.
She wrote: "Mischaracterizations by the popular media of medical conditions, particularly rare ones, can be very demeaning to people afflicted with those conditions, and can affect how people look at them in the workplace or at school."
In an episode on the television show, "House," a VHL patient, murders people during a burst of adrenaline. Graff said it was an unfair depiction of the patient and the disease.
"The ultra-dramatic stories don't help," Graff wrote in the post. "Because most people don't experience the dramatic episodes depicted. "
If patients do have adrenaline symptoms from VHL, they tend to have increased heart rates and high blood pressure, often leading to symptoms of a panic attack, not violence.
"When there's a story of your disease on TV, you'd think you can go to work the next day and discuss it in a rational way, but if your co-workers think that they're in danger around you, that can be pretty embarrassing," said Graff.
And as someone living with VHL, Smith agreed.
"It's not good when diseases are depicted in that way because it makes people feel ashamed to have the disease, and such a rare disease at that," said Smith, a mother of three. "Life is scary enough as it is. We don't need TV to make it even scarier."
Knowledge Is Power
But in defense of "House," Dunkle of NORD had only good things to say about the television show.
"'House' has done some excellent features," said Dunkle. "From our perspective, it's all educational, and education is good and knowledge is power."
By and large, Clack said "Grey's Anatomy" receives positive feedback after rare diseases are featured in episodes.
"People are usually pleased that there may be greater awareness of their diseases and the difficulties and triumphs that go along with it," said Clack. "We hope that, in some small way, making these diseases more prominent will increase their exposure and help with funding and research."