Ian Stedman always wore long sleeves and pants to hide his rash. As a child, he didn’t go swimming with other kids. He’d miss a few days of school each month because of severe joint pain and headaches. He spent his childhood and early adult life “bouncing around from doctor to doctor.”
No one knew what was wrong, and Stedman responded to his peculiar symptoms like his mother, who had similar issues. “You normalize it,” says Stedman, now a lawyer and PhD student in Toronto (pictured here with his daughter). “I knew there would be days I’d lose.”
When Stedman saw his distinctive rash on his newborn daughter, however, he became more determined than ever to find the cause. For the next several months, hours after his daughter had gone to sleep, Stedman poured over medical journal articles and “hundreds and hundreds of images of people’s skin rashes.”
He came up with a list of about five possibilities. One of them was Muckle-Wells Syndrome, a disease so rarely diagnosed that its prevalence is unknown. An online search revealed two doctors in Canada who specialized in the disease. One of them was Ronald Laxer, a rheumatologist at The Hospital for Sick Children. Before the genetic test was even sent, Laxer knew what he was dealing with. “We’ll have you in shorts by summer,” he said. That was two years ago, and Laxer was right.
The genetic test came back positive for Muckle-Wells Syndrome, a condition in which the body overproduces a protein that regulates inflammation. With the diagnosis came the treatment: an intravenous drug that blocks the excess protein.
The change over the past two years has been dramatic. Stedman, 34, doesn’t need to worry about not getting a job because his eyes are bloodshot. He doesn’t turn down trips because he may have a flare up. Most importantly, he is filled with relief to know his daughter won’t be burdened with the same self-consciousness that he was.
There are approximately 6,000 known rare diseases, each of which affects fewer than one in 2,000 people, according to the Canadian Organization for Rare Disorders (CORD). Many more rare disorders have yet to be named. But rare disorders are being diagnosed more frequently thanks in part to increased genetic testing. “With all sorts of research into the human genome, we are discovering new diseases every day,” explains Michael West, a nephrologist at Queen Elizabeth II Health Sciences Centre in Halifax, Nova Scotia. “A lot of these conditions are never taught in medical school.”
Because family doctors and specialists don’t know what to look for, rare diseases often go misdiagnosed or undiagnosed for many years, even a lifetime. This is especially true for the “ultra rare” diseases, ones that most doctors will never encounter in their careers.
Patients and providers stress it shouldn’t have to take so long to get access to information or treatment. Many are calling for a national rare disease strategy to put funding into rare disease research, training and care. (The call has yet to be taken up by the federal government.)
The need to improve diagnosis rates for rare disorders
Cathy Evanochko’s youngest daughter, Kimberly, had her first seizure the day she was born. For the next two years, the seizures continued, causing some brain damage and developmental delays. Neurologists in Edmonton said Kimberly had epilepsy.
It wasn’t until she was two that a resident doctor recognized the specific white spots on Kimberly’s body – a marker for tuberous sclerosis, a genetic disorder that causes tumors to grow throughout the body, including in the brain. “She had seen the disease one other time in her training in the U.S.,” explains Evanochko.
Evanochko thinks medical schools and residency programs should be more open minded toward rare disorders. This training is one of the changes CORD is calling for with its rare disease strategy, according to Durhane Wong-Rieger, president of CORD.
Doctors are trained to think of the most common and likely diagnoses – medical students everywhere are likely to hear a variation of the refrain: “When you hear hoofbeats, think horses, not zebras.” While Wong-Rieger says “that strategy is right,” health providers need to be encouraged to think outside the box “when the condition doesn’t respond the way it should with treatment, or when the patient continues to tell you, this is not it.” Many patients with rare diseases, she says, “have gone from doctor to doctor and gone back to the same doctor 20 times in order to finally get the doctor to say, ‘Okay, maybe there is more than I’ve recognized.’”
However, Martin Schreiber, director of curriculum at the University of Toronto’s medical school, argues that many medical students complain that their lectures too often use examples of rare disorders they’ll never see, at the expense of spending more time on extremely prevalent conditions like hypertension.
Schreiber adds as well that a patient-centred approach to medical education is improving the care available for people with undiagnosed diseases. “In 2015, it’s much more likely that the physician will say, ‘Let’s do some tests, let’s explore this, let’s not just write it off in your head,’” he says.
Despite the differences of opinion regarding whether doctors have enough knowledge of rare diseases, the doctors we spoke to agree that structural problems can stand in the way of diagnoses. Laxer – the doctor who eventually diagnosed Stedman and his daughter – points out that silo division of the health system doesn’t tend to serve patients with rare disorders well. “If the person has hives, they go to an allergist; if they have red eyes, they go to an eye doctor,” he says. “All these experts are looking at the elephant with their own blinders on.”
Exacerbating the ‘blinder’ problem is that in the fee-for-service models through which many doctors in Canada are paid, communicating with other physicians and specialists is often an underpaid or unpaid task. And when family doctors do suspect a rare disorder, it’s difficult to know which specialist to refer to, or who to consult with to get more information. A patient with a rare autoimmune disorder, for example, could be referred to dozens of rheumatologists (as Stedman was) before they land with the one who happens to have expertise in their rare disease.
Medical geneticists are trained in rare, genetic disorders and can often narrow down which genetic tests to run based on a person’s symptoms. But medical geneticists are extremely difficult to access. In Nova Scotia, for example, the waiting time can be two years, says West. In Alberta, urgent cases – those with life-threatening undiagnosed conditions – usually see a medical geneticist within a few weeks, but it can take up to two years for those with less severe symptoms, according to Francois Bernier, head of the Department of Medical Genetics at the University of Calgary.
Will Centres of Excellence and Rare Disease registries help?
One of the solutions proposed by rare disease advocates is centres of excellence – which they’re calling for federal and provincial governments to fund. The European Commission already supports these knowledge hubs for many rare disorders, and in the U.S. the National Institutes of Health awarded $7.2 million each to six centres that specialize in undiagnosed diseases. In Canada, centres of excellence could be hubs for teaching, networking with other experts and providers across the country, and funding research trials.
Currently, people like Laxer and West have taken it upon themselves to create their own centres of excellence – they’ve learned about specific rare diseases, they teach other doctors about them and they oversee research. But doctors aren’t encouraged to take the same route because this kind of self-directed learning, research and networking doesn’t pay well. “You have to want to do it,” says Laxer.
Schreiber adds that “it would be lovely if there was a rare disease website,” where people could type in a rare disease and find out who specializes in that disease in Canada. CORD is calling for such a registry, as well as a centralized database that would allow health practitioners to search rare disorders based on symptoms. Wong-Reiger says that such databases already exist, but they’re fragmented and they’re not easily searchable.
Once a family doctor or local specialist knows who specializes in a specific rare disease in Canada, they could get advice about how to diagnose and treat patients with rare disorders. Ruth Heisey, chief of family and community medicine at Women’s College Hospital, thinks the field of rare diseases poses “a great opportunity to use telemedicine and email consultation.”
Simon Lono, a Newfoundland resident with a rare disease called primary myelofibrosis, warns, however, that more national integration is required for centres of excellence and rare disease registries to work. He currently sees the expert in his disorder, Vikas Gupta, at Princess Margaret Hospital in Toronto, two or three times a year. On these visits, Gupta lays out his treatment plan and consults with Lono’s hematologist in St. John’s, to help him implement it. But Lono has to fly on his own dime. While some provinces will provide travel funds when a certain type of test or treatment isn’t available locally, “it’s very hard” to get the funding, says Wong-Rieger. A rare disease strategy should cover travel costs to move to other provinces, she argues.
Stedman sometimes gets choked up when he watches his daughter play. “If she didn’t get sick, I may not be healthy,” he thinks. Patients with rare disorders are often left on their own to do research, look up specialists and ask for referrals. Often, diagnoses happen in part due to luck.
Stedman recognizes it may cost the health system more money to fund rare disease training, research and care. But it will also save the system, he says. Before he was diagnosed, he visited his family doctor 128 times between the ages of two to 16 “and that’s not counting all the ER and walk-in visits.” And Wong-Reiger points out that early diagnoses can prevent the development of progressive symptoms in some cases.
Still, Wong-Rieger isn’t entirely comfortable with cost effectiveness arguments, when she feels better access for people with rare disorders is a human rights issue. “Everyone has a right to health care,” she says. “It’s like every child who is blind or has hearing loss has a right to education. [In such cases] we say, yes, it’s going to require more money, and yes, it’s going to require more effort, but we will do it.”