Diagnostic Odyssey It took 18 years for Patricia Weltin to get the correct diagnosis. Her daughters have Ehlers-Danlos syndrome, a connective tissue disorder involving too-loose joints that easily dislocate as well asoverly elastic, fragile skin and many complications. That long road to the right diagnosis is known as the "diagnostic Odyssey," says Dr. Christopher Austin, director of the National Center for Advancing Translational Sciences, part of the National Institutes of Health. With rare diseases, he says, most doctors have never seen a case, so "patients go from doctor to doctor to doctor." Now, he says, with the ease of worldwide communication, the journey to diagnosis takes an average two-and-a-half to three years. Read on for more rare disorders. Rare diseases by the numbers Between 6,000 and 7,000 rare diseases exist. In the U.S., Austin says, "the big problem is fewer than 500 of those have any [Food and Drug Administration]-approved treatments. So, over 90 percent of rare diseases have no FDA-approved treatment." In the U.S., a disease present in less than 1 in 200,000 people in the population is designated as rare. That figure meets the definition of the Orphan Drug Act of 1983, meant to spur clinical trials and drug development for conditions – such as Huntington's disease, ALS or Lou Gehrig's disease (of the Ice Bucket Challenge) and muscular dystrophy – affecting a relatively small number of people. Progeria: accelerated aging One of the most poignant rare diseases is Hutchinson-Gilford progeria. "Progeria affects about 16 people in the country at any one time," Austin says. "It's a very dramatic, accelerated condition where these kids die in their teens – usually of old age." The name "progeria" is derived from the Greek and means "prematurely old," explains Mary Dunkle, vice president of educational initiatives for the National Organization for Rare Disorders. In this fatal genetic condition, children are born looking healthy but display signs of speeded aging within 18 to 24 months. Moebius syndrome: facial paralysis Present at birth, Moebius syndrome is a rare neurological disorder involving certain weak or paralyzed cranial nerves. "If the 7th nerve is involved, the individual with Moebius syndrome is unable to smile, frown, pucker the lips, raise the eyebrows or close the eyelids," according to NORD's comprehensive round-up of rare diseases. Kids with Moebius may have difficulties with feeding, chewing, speech, self-esteem and more. A recent surgical procedure called the "smile operation" can help restore facial movement. Eosinophilic gastroenteritis: allergic to food When eating almost any kind of food puts the body's immune system in attack mode, with white blood cells invading and inflaming the digestive tracts, the culprit could be an eosinophilic gastrointestinal disorder, or EGID. People with this rare disease progressively lose tolerance for more and more types of food, which trigger vomiting, diarrhea and stomach pains. Severe EGID can lead to anemia, ulcers, malabsorption and failure to thrive in kids. Some people may need to take "food hiatuses" to heal and survive on unappealing liquid protein formula, either by drinking or through a feeding tube. Addison's disease: salt cravings and low cortisol Also known as adrenal insufficiency, Addison's disease occurs when the adrenal glands produce too little cortisone, a hormone that helps the body respond to stress and affects important functions throughout. Blood pressure and heart function, food metabolism and insulin balance all rely on cortisol. Low blood pressure can be life-threatening. Aldosterone, another hormone, may also be reduced. Fatigue, skin discoloration and cravings for salt and salty food are among the many symptoms. After his death, it was confirmed that President John Kennedy had Addison's disease, Dunkle points out. While author Jane Austen was speculated to have died from the disease, scientists now say that's unlikely. Surprisingly rare Some diseases, although statistically rare, may sound surprisingly familiar. While cystic fibrosisonly affects about 30,000 people in the United States, research advances and advocacy efforts from groups like the Cystic Fibrosis Foundation have amplified the message. Sickle-cell disease, Tay-Sachs and phenylketonuria all qualify as rare diseases, Austin points out. Hemophilia is known for its royal connection, Dunkle says, but the bleeding disorder is much less common than the related but little-known von Willebrand disease. And thanks to childhood vaccinations in the U.S., infectious conditions like measles and mumps appear on the NORD rare disease listing. N-Glycanase deficiency: first child ever Matt Might is an apt name for the man who tracked down his son's genetic disease, called N-Glycanase deficiency, named for the lacking enzyme involved. (The New Yorker details his questin a July 2014 story.) "He was the first child ever in the history of medicine diagnosed with this disorder," Austin says, adding that Might's global networking eventually helped connect about 30 other children with the disease. "We hear versions of this all the time now." The Human Genome Project allows scientists to uncover rare diseases, while online information and social mediaallow families and patients to find clues to match puzzling symptoms to possible causes. Rare determination With years of uncertainty watching kids suffer from serious rare diseases, it often falls on dedicated families to do all the heavy lifting, financial and otherwise. "Imagine what it would feel like if you're the parent of a child with a very bad disease," Dunkle says. "You know the time is ticking and you feel like it's all on your shoulders – to not only take care of your child but also try to find a treatment." In 2011, as Patricia Weltin watched her daughter undergo spinal cord surgery, she decided to mobilize the 30 million Americans affected by rare disorders, regardless of the individual type, and founded the Rare Disease United Foundation. Collectively common Pushing for the right diagnosis and acting as "citizen scientists" – which Weltin calls herself as she pores through medical databases and scientific journals – are part of the rare disease experience. Isolation, unfortunately, is another. A good starting point for patient and families is NCATS' Genetic and Rare Diseases Information Center. Users can link to support groups and clinical trials and talk live to genetic counselors known as GARD information specialists. "We always tell people to realize there's a worldwide community of people with rare diseases who are waiting to welcome them," Austin says. Source
