LIKE MANY PEOPLE WITH A rare disease, Andra Stratton of Los Lunas, New Mexico, spent much of her life not knowing what was wrong with her. Since childhood, she’d had a constellation of hard-to-diagnose symptoms and suspected she had a health problem, but what exactly it was and how to treat it was never clear. Stratton, now 45, and the co-founder and president of the national advocacy organization Lipodystrophy United, bounced from doctor to doctor looking for answers, but her condition – familial partial lipodystrophy – was so rare, none of the doctors she met over decades could tell her what she had. Only about 500 cases of the disease have been described in the medical literature, the National Institutes of Health reports. Familial partial lipodystrophy is one of a group of rare diseases that all feature selective loss of fat tissue from the body. Lipodystrophy patients typically have many of the metabolic markers of obesity – insulin resistance, high triglycerides and lipids (fats in the blood) and fatty liver – but their arms, legs and lower trunk look especially lean and chiseled because their bodies don’t store fat normally. What fat they do have tends to collect around the upper torso, face and neck. What you can’t see is that there’s less fat around their internal organs than there should be to cushion these critical structures. Additionally, patients with familial partial lipodystrophy often have heart problems, cirrhosis of the liver, pancreatitis and lipoatrophic diabetes. In short, lipodystrophy causes many potentially life-threatening complications. As Stratton’s health deteriorated, finding an answer and getting treatment became a necessary quest. “I went 37 years without diagnosis, which is not uncommon at all” among rare disease patients, she says. Finally, after an untold number of doctors’ appointments, Stratton “walked into the office of a local, experienced endocrinologist who continues to do his monthly reading. He hadn’t treated anyone with lipodystrophy, but he’d read about it and he identified me with my lab work and visually immediately.” Armed with a diagnosis, Stratton could begin her search for the right doctor to treat her for the rare disease that had plagued her for so long. Stratton’s experience is not unique. Patients with rare diseases often bounce from doctor to doctor for years on end looking for answers. Global Genes, a rare disease advocacy nonprofit, reports that “patients living with rare disease visit an average of 7.3 physicians before receiving an accurate diagnosis,” a process that takes an average of 4.8 years. Because so many rare diseases are progressive in nature, delaying diagnosis means a delay in treatment – if any is available – which can have negative health consequences for patients. To be classified as rare, a disease must affect fewer than 200,000 people in the United States. Global Genes reports there are approximately 7,000 rare diseases and disorders that have been identified so far. More are being discovered every day, but 350 of the known diseases account for the vast majority of rare disease cases in the U.S. Although each individual disease affects only a small number of people – in some cases a single patient – collectively, rare diseases are a major burden in America, impacting about 30 million people, or nearly 10 percent of the population. Eighty percent of these rare diseases are caused by faulty genes, and about 50 percent of the people affected by rare diseases are children. Global Genes reports the grim statistic that 30 percent of children with a rare disease won’t live until age 5. The EveryLife Foundation for Rare Diseases reports that 95 percent of rare disease do not have any Food and Drug Administration-approved drug treatments. These statistics add up to an uphill climb for many patients seeking an accurate diagnosis and appropriate treatment for a rare disease, which can be compounded by the fact that some doctors may not be able to help or, worse, dismiss patients without a thorough enough investigation. “Prior to diagnosis, many patients with rare diseases are told they’re a hypochondriac or they’re making up their symptoms,” Stratton says. “They get branded as drug seekers or they’re referred to a psychiatrist” for a perceived mental disorder when actually the problem is based in the body rather than the mind. However, Dr. Stanley F. Nelson, professor and vice chair of human genetics and professor of psychiatry at the David Geffen School of Medicine at UCLA, says most physicians have had the experience of working with a rare disease patient at some point. “Every physician has rare disease patients who come to them that they have a really difficult time diagnosing. We sometimes lump those people together with other individuals, and we’re getting more adept at recognizing that they’re unusual presentations of completely new diseases.” Nelson is also a principal investigator with UCLA’s Undiagnosed Diseases Network, a genetics-based initiative to diagnose elusive conditions. The Network gets referrals from “allergists and immunologists, pulmonary physicians, neurologists and geneticists. It’s really from all over medicine,” and patients sometimes land with the UDN team for more precise diagnosis and treatment. Stratton says this road to diagnosis can be long and grueling, but finally arriving at a diagnosis can be a relief and the beginning of a new journey. “Just having a specialist who can say, ‘yes, you have this disease. I know you have this disease. This is what we know, this is what we can do,’ that can be transformative,” she says. Where to Start Finding the right specialist to help you with a rare disease takes time, but Nelson says you may want to begin your search with a geneticist because so many rare diseases have a genetic component. “For a lot of the rare genetic diseases, geneticists are the most adept at seeing very rare presentations of human development.” Because rare diseases are often diagnosed in children, he says a general pediatrician who’s stumped by symptoms is often the first line doctor, and may send the patient to a geneticist for testing. “If the geneticist can’t solve the riddle, then they end up with people like me for the next level of sequencing,” Nelson says. From there, hopefully the patient will receive a diagnosis and can begin the search for a specialist with expertise in that disease. When searching for a specialist, Stratton recommends looking at the National Institutes of Health website and ClinicalTrials.gov to find out who’s an expert in the disease and what they’re working on. “Another resource would be the umbrella organizations for rare diseases, the two largest being the National Organization of Rare Disorders and Global Genes. They can often point you in the direction of a foundation” that’s specific to the disease you’re dealing with, which may offer more specific help. Foundations that are specific to your disease, such as Lipodystrophy United, can be a great resource for patients who have a diagnosis. These organizations typically provide information about leading specialists in the field, treatment innovations and access to other patients who can support you. Chances are good you’ll have to travel out of state to see a specialist, Stratton says, but if you can get enrolled in a clinical trial, you might be able to avoid some travel expenses (expenses are often covered for trial participants) while also accessing newer treatments and technologies. Social media can also be a resource. Stratton recommends searching on Facebook for support groups related to your disease and asking who other patients see. “From there, you could go to publications. Do a search on PubMed,” an online listing of medical literature. The author of a study about your condition could be the doctor you seek. “If you can’t find someone who knows about that disease, the next most important thing is to determine what systems are most involved with your disease,” Stratton says. For example, lipodystrophy, like many rare diseases, affects several different systems in the body, but often the endocrinologist leads the team. “Not only do rare disease patients have to find one specialist, they often have to find multiple specialists,” Stratton says. If you can cobble together a team with specialized experience in your specific disease, that may help you better manage the condition. Finally finding a specialist can be an exciting feeling, but Stratton cautions that patients should keep expectations in check. “Just because you have a diagnosis and see a specialist does not mean you’re on the road to a cure.” As noted, most rare diseases don’t have an available treatment. She says it’s also critical that patients with rare diseases educate themselves as much as possible about the condition because chances are you’ll be the expert in the room with most doctors you see. To help with this, Stratton has created a binder of information she takes with her when she meets with any new doctor or when she goes to the emergency room. (The cardiac implications of lipodystrophy send Stratton to the ER every few months.) “When I go to any new doctor, I take a publication of the treatment guidelines and I take other relevant information about my disease.” Arriving armed with appropriate information can help Stratton get the care she needs faster and avoid unnecessary testing. Lastly, Stratton urges rare disease patients not to lose hope. It took her nearly four decades to get the right diagnosis, but she says being diligent in your research and advocating for yourself can help you find the right answer and the right doctor, which is just as important a consideration with a rare disease as it is with more common ailments. “Just as with any disease, if there are a handful of specialists, it’s still appropriate to find out about their bedside manner. See if they’re more focused on genetics or research or clinical care. If you’re looking for a doctor for your children, find out whether the specialist has experience treating kids. These doctors are still people, they have different personalities, and just like any doctor you want to find the doctor that you feel most comfortable with. Your options are more limited, but the other rules still apply” with regard to finding the right fit for you and your situation. Source
