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.”
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I am living with a rare disorder for over 30 years, and I can not get help in canada and they refuse to do the testing I would need to be diagnosed.I am living a nightmare that I can not wake up from.
This is so right. I remember prior to 1986, a person with epilepsy had no rights at all, but that was thirty years ago. Have we really advanced much? I don’t think so, not as long as our government is using a cost/effective model which disregards that people are people, not diseases. A fallen by the wayside theme adopted by Canadian Mental Health Association is 1993, comes to mind: “Putting People First”. What happened; they’re still trying to put people in little boxes; they have more people that have just given up on the system, and have turned to drugs, alcohol, or the final step: suicide. It’s a sad state of affairs.Gary Springman
CMHA still a bunch of LIARS who PLAN, TO INTENTIONALLY INFLICT Mental, Physical & Financial hardship at a “Professional Level” knowing how to Plan, Collaborate & Inflict Damage using knowledge as a WEAPON, ignoring any serious health issues. I’m suing system due 2 documented illegal actions resulting in documented physical trauma.
However well prepared I am, I highly doubt anyone will volunteer 4 Personal, Financial & Professional Hardship of this magnitude!
Sick ppl need help, I wonder if ANYONE HAS EVER BEEN REALLY HELPED?
I made significant physical improvement hours after cancelling ALL HEALTH APPTS. & FIRING ALL DOCS! I didn’t realize how much STRESS came from years of constant abuse!
I still have my issues. With CMHA I lost ability to relax, couldn’t find comfortable body position, unable to sleep, think clearly, became HOPELESS FOR FIRST TIME!
Regained HOPE lost for years after telling/yelling “You are a bunch of crazy sadistic Losers” and the only thing left unbroken is my Brain. Lucky 2 leave prior 2 PURPOSELY BEING DRIVEN INSANE by the ENTIRE Mental Health Profession.
Good health & good luck!
The Cost, Efficacy and Risk of recognized Multiple Sclerosis drugs needs to be contrasted with the off-label use of chemotherapy/stem cell transplant. (this works for many diseases as well, such as lupus, CIDP, scleroderma, rheumatoid arthritis, and stiff person syndrome).
I am hoping medical professionals will review the status of one particular medical treatment for people with autoimmune disease, specifically Multiple Sclerosis (MS).
To date, no drugs stop MS. MS drugs only reduce exacerbations by 30-40%, leaving people with MS not only dealing with an ongoing degenerative disease but also with the MS drug’s side effects. Though many of the side effects are simply very uncomfortable, there is a significant noted amount of varying side effects that are mortal. These have tended to be ignored. These include Progressive Multifocal Leukoencephalopathy (PML), liver failure, kidney failure, and even some forms of cancers.
However, there is an off-label use for Chemotherapy. By using one’s own bone marrow transplant (own adult stem cells) it has only a 1% mortality rate. This is a commonly recognized and allowed treatment for patients with leukemia, having been regularly performed since the 1960s on patients up to the age of 65. This treatment STOPS disease progression for many people with autoimmune disease, especially MS. It was, in fact, discovered when some patients who had cancer and who also had an autoimmune disease, found that their autoimmune disease disappeared after their cancer treatment.
In Canada, we have had only very small drug trials using this procedure on a very small segment of people. It is called HSCT, Hematopoietic Stem Cell Transplantation. It should be not listed as experimental treatment as it is definitely not new technology and has already been used on some patients for decades. In the United States, however, after President Obama’s executive order 13505, which was basically “Removing Barriers to Responsible Scientific Research Involving Adult Human Stem Cells”, there are now large phase 3 national drug trials, at Northwestern University in Chicago. This treatment has results and puts patients with MS into remission, stopping 91% of the disease from proceeding further, with the remaining 9% having their disease so slowed that it is many years before they need to depend on drugs again.
The cost of the procedure is about the same as for a patient who takes the approved MS drug Lemtrada, but with better results. Lemtrada only puts a patient into remission 70% of the time (CARE-MS I & CARE-MS II trials). Additionally this treatment takes 2 years to complete (5 days infusion year one, and 2 days infusion year 2) and, unlike HSCT, for the 4 years following treatment you have to watch the patient very closely for liver, kidney, thyroid failure, as well as developing Cancer. Lemtrada treatment has been banned by the FDA when used under the name Campath.
If a patient were to have HSCT, it not only stops their disease from continuing, it will save healthcare billions in Pharmacare costs and prevent people with MS from becoming incapacitated in their later years.
This is really a human rights issue when one group of people disabled by cancer can get it, yet people disabled with MS cannot. The mortality for both groups is about the same, yet MS patients have to wait for, almost, non-existent trials to be completed before we can ever get this treatment.
This treatment should not be held up in trials, it should be a legitimate treatment option, now! Dying With Dignity is before the courts, what about the right to live. This Program will save Federal and Provincial Governments billions of dollars and grow the middle class. For example if 100,000 people with MS (MS Society figure) X 2/3 of people with MS X $60,000 (avg. cost MS drug per year) = $4 billion dollars per annum.
If MS is not halted, approximately 80% of people with MS will end up on disability. (figure from Cdn MS Society) If our disease is arrested, then many of us can resume our working lives. This also grows the middle class, and will save money since not all of us will become so disabled we have to rely on Government Disability.
Conservative estimates :If 100,000 people do not get their MS halted, then as the disease progresses there will eventually be 80,000 people on Government Disability as they become unable to work – also a significant health cost. The cost of this disability is estimated at $12,000 per annum X 80,000 people = $960 million dollars. This does not include the cost if the MS patient needs custodial, palliative care in later life.
Please can we not consider this treatment and the obvious benefit of HSCT in treating MS>
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Thank you for such an informative article. %featured%It is important to point out that genetic disorders account for over half of pediatric hospital admissions, and about 10% of adult hospital admissions; collectively, rare genetic disorders add up to a lot of “zebras” and represent a significant cause of morbidity and mortality.%featured% Genetic testing is often the critical requirement for confirming a diagnosis, but for years, much of the testing for such rare disorders has been available only outside Canada. Ontario and other provinces have started to renew investment in advanced genetic testing with funding to LifeLabs Genetics and other providers.
As testing becomes more accessible for tuberous sclerosis and many other such disorders, earlier diagnosis and improved options for care will follow, and will certainly contribute to improved quality of life for the affected families. Access to accredited, accurate, informative, and affordable testing in Canada should be a cornerstone of Canada’s strategy for rare genetic disorders.
With the recent opening of its state-of-the-art genetics laboratory, LifeLabs is part of the collective efforts to make cost effective, clinically relevant genetic testing more accessible to all Canadians.
Ron Carter, PhD, FCCMG
Program Director and Lab Director,
LifeLabs Genetics, Toronto
Thank you for this excellent article. I wanted to add some important information which would help rare patients and their physicians worldwide.
Orphanet http://www.orpha.net/consor/cgi-bin/index.php?lng=EN was created not that long ago. At the Canadian Organization for Rare Disorders conference in Ottawa, Ontario, in 2010, Orphanet’s Dr. Loredana D’Amato Sizonenko presented to introduce it to Canada.
Her speech was incredible in terms of the work involved to create Orphanet but also the purpose it would serve and how it functioned as a database. At that conference, we learned that Quebec had already begun a partnership with Orphanet, as it was exclusive to Europe, for a matching Canadian portal database. Today, both are up and running and are an invaluable source of detailed rare disease information and professional contacts serving both patients and physicians in multiple languages.
Orphanet Canada portal is at http://www.orpha.net/national/CA-EN/index/homepage/
Both are on twitter as well. https://twitter.com/Orphanet and https://twitter.com/OrphanetCanada
Since this dream of having a symptom database appears to have been fulfilled by Orphanet,
in addition to providing an international resource for linking rare disease professionals,
I hope we continue to work together – all the rare disease organizations – to build on what has been accomplished already and now focus on meeting the needs for improved diagnostics and affordable, accessible treatments for all rare disease patients.
Looked up my daughter’s disease on the site. It’s not there. :(