6 Rare Illnesses That Hollywood Has Put in the Spotlight — and 1 It Hasn't (Yet)
What happens when your disease is an "orphan"?
A version of this story first appeared in the Sept. 19 issue of The Hollywood Reporter magazine.
Rob Ashe's daughter was 4 days old when he first saw the word "arthrogryposis," written on her incubator in the NICU. Elliot, now 4, had been born with severe contraction in her major joints, resulting in extremely low muscle tone. Only one in 3,000 newborns has the condition. "There still isn't a ton of research," says Ashe, an Emmy-nominated editor on TBS' Conan. Geneticist Dr. Judith G. Hall, who has studied arthrogryposis extensively, had one big piece of advice for Ashe when she learned about his line of work: “You need to get celebrities involved.”
For those touched by the 6,800-plus classified rare (or orphan) diseases, each occurring in fewer than 200,000 people in the United States, access to such powerful platforms is vital. Mass celebrity participation in the ALS Ice Bucket Challenge has helped drive more than $112 million in donations to research a disease that afflicts 30,000 Americans. That campaign has been the exception: “A lot of these diseases go underfunded, and [researchers] never find a cure for them,” says Brillstein manager Andrea Pett-Joseph, whose son Brandon has epidermolysis bullosa (EB), a rare disorder that causes extremely fragile skin. In response, Pett-Joseph helped establish the EB Medical Research Foundation, enlisting the support of Hollywood stars including Brillstein clients Courteney Cox, Zach Galifianakis and Nina Dobrev to raise more than $5 million to date for research.
“The entertainment industry can be helpful in getting [rare diseases] the attention and funds they need,” says UTA CEO Jeremy Zimmer, whose friend Wendy Landes died in 2013 of liposarcoma, an uncommon soft-tissue cancer. The agency sponsors Wendy Walk, a sarcoma support group founded by Landes’ children in her honor. The organization has so far raised $2 million, which is “a drop in a bucket in a breast cancer world, but for us, it’s a lot,” says Landes’ daughter Ali. “When people fund an orphan cancer, their resources can go a long way.”
That’s because a significant number of rare diseases are caused by single-gene mutations that are relatively less complex to investigate, says Jill Wood. Such disorders include her son Jonah’s Sanfilippo syndrome, a metabolic disease that leads to central nervous system degeneration. “Scientists say this is an easy fix,” she says. “We can have this done within five years if somebody threw $20 million at it.” But Sanfilippo syndrome is too rare to attract the sponsorship of a large pharmaceutical firm, so Wood and her husband, Jeremy Weishaar, founded the charity Jonah’s Just Begun to raise money. Last year Weishaar posted a few fundraising flyers on the set of CBS' Elementary, where he’s a camera operator, catching the eye of series star Jonny Lee Miller.
“I didn’t want to wait until it was my kid that has a rare disease,” Miller says. An avid runner, he decided to complete his next race for JJB; the actor has since run 250 miles and raised $250,000 toward funding a clinical trial, and his fans have donated directly to the family as well.
Spreading awareness reaps benefits beyond raising money. Because of their rarity, research on orphan diseases is limited by small sample sizes. Disney publicist Carrie Davis and her sister, screenwriter Hadley Davis (Ice Princess), are funding (with a matching gift from Disney) a study on glioblastoma, the brain cancer that took their father’s life in July. They’re working with Baylor oncologist Dr. Melissa Bondy to investigate evidence that Ashkenazi Jews are more likely to get the disease and hope to identify more affected families “who can help unravel the puzzle,” Hadley says. The Jewish Glioma Project soon will publish its first paper.
Educating the public on the existence of certain rare diseases also can help correct tragic misdiagnoses. Janice McLaughlin’s daughters Marissa and Mahrynn suffered from an unknown neurological disease for more than a decade before a genetic breakthrough last year finally identified their ailment: HBSL, a brain disorder of which Marissa and Mahrynn have the only two known cases in America. McLaughlin wants to get the word out about HBSL to spare other families the same frustrating grappling for answers: “Who knows how many people are out there with a [wrong] diagnosis of cerebral palsy? For me to tweet something is not going to reach the same number of readers as if Pauley [Perrette] did it.” The NCIS star (who has 571,000 Twitter followers) befriended the McLaughlins a few years ago after service at Hollywood United Methodist Church and is now set to serve on the board of their upcoming foundation.
Without widespread institutional support already in place, putting together these grassroots nonprofits takes time and energy that many families cannot afford. “Working in television, where things are so rapidly paced, it was challenging to do my job and maintain insurance while my daughter was fighting for her life,” says Aaron Hammersley, a Disney storyboard artist whose daughter Hazel was diagnosed with neuroblastoma, a rare childhood cancer, last year. The Hammersleys found assistance through a locally based organization called Here to Serve, which matches families of critically ill children with volunteers such as Paramount TV president Amy Powell, who has sent meals to the family — a big relief to the Hammersleys, who welcomed their fifth child in July.
Conan editor Ashe and his wife, Angie, have also added to their family: 2-year-old Fiona, adopted from China. Fiona has a rare disease of her own: amniotic band syndrome, a condition in the womb that left her with just three developed fingers and a club foot. A couple of months ago, the two sisters had surgery on the same day at Children’s Hospital Los Angeles. “We always knew we were going to adopt, but when Elliot was born, what we imagined our adopted child would be changed,” Ashe says. “Who better than us [to adopt a special-needs child], especially since we already have an orthopedic medical team in place?”
The Ashes have vowed to take every opportunity to spread awareness about their daughters’ rare diseases. But although Ashe has the Rolodex for heeding Dr. Hall’s advice, he does not yet have a charity in place for his colleagues to give to. “I don’t want to cash in those brownie points when there’s nothing in place [for researching my daughter’s disease],” he says. “But the second we find an opportunity to set up a foundation, we will.”
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