Kelley Sperry has been bullied and taunted about the way she looks. She’s lost jobs because of her symptoms. The 19-year-old from Windsor, Colorado has a rare disease that’s making half of her face waste away. Little by little, her right eye is sinking into its socket. One side of her nose is twisting and shrinking, and her lip has pulled up into an expression that some people mistake for a sneer—problems that have been diminished, but not fully corrected by recent reconstructive surgery.
Kelley’s disease, Parry-Romberg syndrome, isn’t just skin deep. A series of strokes, starting at age 9, have robbed her of much of the vision in her right eye. For most of her life, she’s endured stares and comments about her appearance. At one school, classmates contorted their faces into a cruel parody of hers, calling it “the Kelley face.” Six years ago, I wrote about how this courageous teen found true friends who can see the beauty that’s on the inside, in my Reader’s Digest article, Face Value.
These days, Kelley continues to grapple with evolving symptoms that now include recurring seizures, resulting in months of hospitalization and losing jobs. Despite the many challenges she faces, she’s managed to get her certified nursing assistant degree and has just landed a position in her field, where she hopes to help others, drawing on the insights her own disease has sparked. “I’ve had so many hospital experiences and a few bad nurses along with way. This is work where you need a true passion and compassion for the patients.
Today, people around the world will observe Rare Disease Day, as a coalition of more than 500 patient organizations, medical societies and government agencies join the National Organization for Rare Disorders (NORD) in working to raise awareness of the more than 6,800 rare diseases that have been identified so far, which collectively affect 30 million Americans. Because rare diseases often stem from inherited problems, more than half of those battling them are kids, says Mary Dunkle, NORD’s vice president of communications. “It’s not unusual for families to spend five or more years trying to get an accurate diagnosis. It’s devastating for parents to have a sick child and not even be able to put a name to what’s wrong.”
Kelley’s parents had to consult more than a dozen doctors, some of whom brushed off their concerns, says her dad, Jay. “One ear-nose-throat specialist’s attitude was, ‘So what? Everyone has little imperfections. We felt like we were being scolded for paying too much attention to our daughter’s looks when we were worried about her health.” Once Kelley finally did get a diagnosis, she and her family found resources and support online and through NORD, which maintains a database of organizations focused on specific diseases and also provides genetic information for parents and patients affected by inherited disorders.
Only about 200 rare diseases currently have treatments—and for the others, there’s a dearth of research into cures, adds Dunkle. “For many of these disorders, including ones that are disabling or even life-threatening, nobody is looking into treatments, leaving patients and their families with no hope for improvement.” In some cases, medications approved for other conditions are used “off-label” for rare diseases, says Dunkle. “Because a lot of treatments are experimental, insurance companies often won’t pay for it.”
Another issue for babies with inborn errors of metabolism—diseases that affect the body’s ability to break down nutrients in food—is that plans may not pay for the medical foods and infant formula these kids need to prevent lifelong mental or physical disabilities. “Parents will be told that special nutritional formulas are a food, not a drug, so aren’t covered,” reports Dunkle. Widespread use of newborn screening tests are helping identify babies with these disorders before serious complications set, making treatment with the right diet a crucial component of prevention.
By connecting millions of patients and healthcare groups around the world, Rare Disease Day hopes to both boost funding for research into cures and to shatter the isolation that many people with rare diseases often feel. Through online groups, Kelley and her parents now have friends all over the world who are also affected by Parry-Romberg syndrome, says her dad. “It’s a relief to talk to other people with the same disease, to find out what may occur and how they’re handling it. This disease is rare enough that without the Internet, our daughter might have gone through her whole life without ever meeting anyone else who has it.”
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