MASTHEAD-2Multi-faceted strategies for awareness, diagnosis and care have worked to greatly improve health outcomes for people with major common health conditions such as cancer and heart disease. We know such an approach can help us tackle the 7,000 rare diseases that affect nearly three million Canadians. We just need the will, writes Dr. Durhane Wong-Rieger. Accompanying this article are perspectives from parent Cathy Evanochko, clinician Dr. Cheryl Rockman-Goldberg and researchers Dr. Kym Boycott and Dr. Alex Mackenzie.

By Durhane Wong-Rieger, Inside Policy, Nov. 9, 2015

Jason’s Story

Jason is lucky. He was born with a rare metabolic disease. Jason never knew his grandfather, who died of a heart attack at age 45, or his great-uncle who died of prostate cancer at age 42, or his great-aunt who died from kidney failure due to diabetes.

Jason is lucky because his father, who was successfully operated on with “state of the art technology,” following a heart attack, plans to dance at his wedding; his 18-year-old cousin has been declared “cancer-free” following “aggressive but highly effective” leukemia treatment plus supportive care; and his fiancée, who manages her type 1 diabetes with advanced monitoring devices and infusion therapies so “unobtrusive” that she can “out-bike, out-climb, and certainly out-dance” him.

Jason is also lucky because his rare disease is one of just several included across Canada in newborn screening programs. And because he was started on a special diet from birth, he has avoided any cognitive or developmental delays. But sadly, Jason does not have coverage for a new drug that has been approved by Health Canada that could improve his quality of life as well as potentially protect his cognitive capabilities.

Why Rare Diseases need a “common disease” strategy

Canada needs a rare diseases strategy for Jason – and for the almost three million other Canadians like him with rare diseases and their families. Because, as Jason knows from his own family history, such an approach to major health issues can save lives and change families – forever.

What do 7,000 rare diseases have in common with cancer, cardiovascular disease and diabetes?  First of all, rare diseases, like the more common conditions, can be serious, debilitating and life threatening. Second, all of these diseases affect millions of Canadians: diabetes affects about 2.4 million Canadians; about 1.4 million have cardiovascular disease, all cancers combined affect 1.8 million Canadians, and an estimated 2.8 million Canadians have a rare disease. And like the other chronic conditions, early screening, diagnosis, and treatment are needed to prevent and halt progression.

Sadly, that may be where the similarity ends. Starting 30 to 50 years ago, Canada, like most developed countries, invested in targeted and even aggressive strategies against cancer, cardiovascular disease, diabetes and, most recently, mental illness.

And the investments have paid off.  In the last half century (1960-2011), the rate of death in Canada from cardiovascular disease and stroke dropped by 70 per cent.1

We’ve all benefited from similar successes with our 50-year-old “war on cancer.” In 1960, Jason’s great uncle would have had just a 52 percent chance of living five years following a diagnosis of prostate cancer.2 Now, five-year survival is the norm, at 96 percent.3

How did these remarkable medical successes happen? Obviously, there is no simple solution or “quick fix.” It took many things: basic and clinical research, better tests and medications, better surgical procedures, multidisciplinary medical education and widespread public education, resulting in less smoking, more exercise, healthier eating, and more.

At one time, the proliferating numbers and costs of these “unstoppable” diseases were feared as threats not only to public health but also to public health budgets. In each of these disease areas, success was enabled by a comprehensive, coordinated and long-term approach. Researchers, healthcare providers, and patient organizations came together with policy makers, private industry and other funders to create and implement multi -faceted, multi-disciplinary national strategies. They have been successful in creating awareness, promoting research, generating new therapies, establishing expertise with outreach to improve diagnosis, treatment, and care, and mobilizing patient organizations and community support.

We have a long overdue obligation to apply this same approach to rare diseases. More than 36 countries have developed national plans or strategies for rare diseases. Canada, despite its world-class healthcare system and a culture of “equitable access,” has lagged behind. The result is that Canadians with rare diseases have access to poorer healthcare than those with common conditions. They also fare worse than patients in many other countries in many aspects of rare disease care.

The very good news is that we have a foundation of expertise and we have recently developed a plan.

Rare diseases are often life-threatening, seriously debilitating and/or serious chronic conditions, each of which affects a small number of patients, typically less than one in 2,000 persons. But there are about 7,000 rare conditions which, taken together, affect nearly three million Canadians – about one in 12 of us. Moreover, even though 80 percent have a genetic cause, more than half occur in families with no known history of the disease. Some diseases will “skip” generations and others are the result of spontaneous genetic mutations.

Overall, rare diseases are really far from rare. They represent a serious public health risk to many Canadian families as well as a major challenge to healthcare systems and society, which ranks with cancer, cardiovascular disease, diabetes, and mental illness. Similarly, rare diseases need to be addressed with a comprehensive national strategy.

The needs of patients and caregivers were amply demonstrated by Canadians affected by rare diseases in an extensive survey conducted for the Canadian Organization for Rare Disorders to develop the Rare Disease Strategy for Canada. More than 550 took part in the bilingual survey, about two-thirds patients themselves and one-third parents or caregivers. The findings were revealing:

More than one in five persons with rare diseases (21 percent) took more than six years to be correctly diagnosed, with 30 percent of patients receiving three or more incorrect diagnoses before the right one was made. As a result, more than 61 percent required visits to three or more specialists; one in four (25 percent) required six or more specialists.

One likely reason for these expensive delays (for patients, their families and the health system) is a lack of information on rare disease among all types of doctors. Four out of five (81 percent) of surveyed patients and family members feel that general practitioners are not adequately informed and half feel that even pediatricians and other specialists are not either (50 percent and 53 percent, respectively).

Once a diagnosis is made, the challenges continue with access to treatment. More than one in three surveyed felt they had inadequate access to drug treatment or non-drug treatment such as surgery (37 percent and 34 percent, respectively). Seven out of 10 feel they don’t get adequate psychosocial support and don’t have adequate financial resources to deal with their rare disease (69 percent each).

It is these issues facing patients that were paramount in the minds of those who worked with the Canadian Organization for Rare Disorders to develop Canada’s Rare Disease Strategy, which was unveiled in May 2015. Its preparation involved extensive consultations with patients, governments, healthcare providers, the public and private-sector groups.

Canada’s Rare Disease Strategy

Canada’s Rare Disease Strategy draws from national plans in other countries as well as the Canadian cancer, cardiovascular, diabetes, and mental health strategies. It establishes five major goals with a total of 20 related and practical actions.

The five goals are:

  1. Improving early detection and prevention
  2. Providing timely, equitable and evidence-informed care
  3. Enhancing community support
  4. Providing sustainable access to promising therapies; and
  5. Promoting innovative research.

In accompanying articles in this edition of Inside Policy magazine, others more closely involved with the issues briefly present the arguments for why this strategy is needed by Canadian patients, clinicians and researchers.  As an illustration of the sensible approach of the strategy, we can look in more detail just at the two actions to meet the first goal of improving early detection and prevention.

The first action is to adopt a national approach to newborn screening (NBS). This tactic is a very good illustration of how quickly Canada could succeed in addressing rare disease challenges, if there is the political will. About 80 percent of rare diseases are genetic, and we have seen success with newborn screening using the heel-prick dried blood spot sample taken immediately upon birth.  For example, since the 1960s, NBS for phenylketonuria – the disease affecting Jason – has saved thousands of lives and/or prevented serious physical and developmental disabilities.

Today, it is possible to screen for about 50 rare conditions at birth; however, Canada has never adopted a national standard or program for newborn screening.  Until 2006, provincial programs screened for two to 11 conditions; with the exception of Saskatchewan, which screened for 29. Thanks primarily to strident advocacy, provincial standards have improved but are still highly disparate, ranging from five to 30 conditions, with only two conditions included in every provincial program. We have many examples of children who could have been spared devastating outcomes if they had been born in the adjacent province.

The strategy calls for two clear and simple actions to address this gap: development by all provinces and territories of a national approach to newborn screening and collaboration to implement early detection and preventive services to allow detection of rare diseases as early as possible. There are many reasons why a national approach is beneficial, not only to assure equitable access for all families regardless of where they live, but nationally coordinated programs to promote efficiencies, expertise in diagnosing, and development of cost-effective solutions across jurisdictions.

We strongly support a provincial/territorial initiative led by Ontario. In October 2013, the provincial and territorial health ministers acknowledged newborn screening as a “key population-based initiative with the goal of early detection and prevention so that better health outcomes for the given population are achieved.”4 To that end, they established a working group to recommend a list of primary conditions for testing and to improve consistency across provinces. The working group will report to the Health Ministers in January 2016, incorporating feedback from a stakeholder consultation.

For each of the five goals, the Strategy has outlined comparably sensible and achievable actions that build on existing expertise, services, programs, centres, networks and collaborations. They will yield great benefit to millions of Canadians, not only those directly affected. Many of these actions are not costly but require breaking down barriers that delay diagnosis, prevent access to expertise and delay appropriate use of valuable therapies.

Another fundamental action is the establishment of rare disease registries, built around a common set of “core” elements and accessible for appropriate uses from co-ordination of care to enrolment in clinical trials to advancing disease knowledge and response to therapy by linking to international registries.

There are many commonalities across the 7,000 rare diseases as there are with the common conditions. The adoption of a Canadian strategy is not just helpful but essential. The creation of Canada’s Rare Disease Strategy under the leadership of CORD is proof of what the passion of a patient community can engender, but more importantly the strategy is testament to the collaborative power of the rare disease community.

Canada’s Rare Disease Strategy is a public health plan that will benefit all Canadians. We call upon all Canadians to support and to take an active role in its implementation.

Durhane Wong-Rieger, PhD, is President and CEO of the Canadian Organization for Rare Disorders. She has served on numerous health policy advisory committees and panels and is a member of the Advisory Board for the Canadian Institutes of Health Research Institute of Genetics and the Patient Liaison Forum for the Canadian Agency for Drugs and Technologies in Health. She is immediate Past-Chair of the International Alliance of Patient Organizations, and Board Member representing patient interests at DIA (Drug Information Association).

Why patients need the Rare Disease Strategy, by Cathy Evanochko

My daughter, Kimberly, has tuberous sclerosis complex (TSC), which causes non-cancerous tumours to grow in various organs. She began having tonic-clonic seizures at seven months of age. It took almost two years to get an accurate diagnosis. The Rare Disease Strategy would support physicians, not with the impractical goal of their learning about all 7,000 rare diseases, but by giving them resources to turn to for diagnostic help when they are faced with the unknown.For patients, the Rare Disease Strategy is all about breaking down barriers – barriers that don’t need to exist but do great harm in separating rare disease patients from the right diagnosis, the right care and the right treatments.

Then there is the matter of care. For any given rare disease, there are relatively few doctors in Canada who are experts. However, our separate provincial health systems make it very difficult for a patient like my daughter in Alberta to have access to a specialist in another province with more expertise. The Rare Disease Strategy calls for these inter-provincial barriers to specialized experts to be eliminated so patients can more easily get the care they need.

Part of good care is access to treatments, when they exist. I have experienced some of the many unnecessary barriers to treatment that patients face in Canada. When the only drug available to treat TSC was finally approved for sale in Canada, the $15,000 annual cost wasn’t and still isn’t universally reimbursed. To be reimbursed, it had to be evaluated by the Common Drug Review (CDR), but the CDR at first refused because the drug is normally used for cancer treatment and another agency reviews cancer drugs. When CDR finally agreed to review, they did not recommend it for reimbursement because the study data did not satisfy their evidence needs, something which would be impossible given the number of patients affected. CDR also chose not to accept “tumour shrinkage” as a legitimate surrogate outcome, despite its acceptance by the cancer community.

Eventually, I and other Canadian patients’ families applied directly to the provinces for reimbursement, bypassing the CDR process, with some success in some provinces but not in others. This has resulted in an unjust patchwork of coverage. The Rare Disease Strategy is vital to streamline this complex process and make access to treatment easier and more uniform across Canada.

Cathy Evanochko lives in Calgary and is an active volunteer leader with TSC Canada and with the Canadian Organization for Rare Disorders, serving as Co-Chair and Vice-Chair, respectively.

Why clinicians need the Rare Disease Strategy, by Dr. Cheryl Rockman-Goldberg

We have information about rare diseases. Most of them have been well documented in the literature and such information today flows freely and easily thanks to modern technology. The Rare Disease Strategy will raise awareness of clinicians to be thinking about rare diseases when more common diagnoses to a problem don’t seem to be working. Once the possibility of a rare disease is raised, it’s more likely to be found quickly.The Rare Disease Strategy, if implemented, would perform one invaluable service for Canadian clinicians. It would make the whole of what we can do for Canadians with rare diseases greater than the sum of its parts. Let’s look at those parts.

We have diagnostic tests and genetic tests for rare diseases. The Rare Disease Strategy calls for greater genetic testing in people at risk so we can follow and treat them better. Easier and expanded access to diagnostic testing will also speed the process towards treatment and limit the number of dead-end diagnostic trails patients have to follow.

We have specialists with expertise in most rare diseases. However, they can be few and far between, particularly for the rarest of diseases. The Rare Disease Strategy calls for easier access to out-of-province experts so Canadians no matter where they live can get the best possible advice and care. The Centres of Excellence and virtual clinical networks called for in the strategy would assist this goal greatly.

We have treatments for many rare diseases. Our problem with many treatments is their very high price and the great differences among provinces in whether or how they are made available. The Strategy calls for a much-needed, consistent, evidence-based approach which provides equitable access to treatments that are shown by evidence likely to be helpful and ongoing evaluation of effectiveness and safety of new drugs. Given the small number of patients with individual rare diseases, a strategy that mandates ongoing surveillance and reporting to provincial and territorial health ministries and a national body is critical for rare diseases and the responsibility of specialist and general physicians alike. A national strategy would eliminate current roadblocks to care and facilitate critical ongoing surveillance and reporting. Far too much valuable clinician time is spent today working case-by-case to secure patient access to useful treatments.

The parts are there. We have them. Let’s use the Rare Disease Strategy to put them together into something that truly helps Canada’s doctors care for the three million Canadians with rare diseases.

Dr. Cheryl Rockman-Goldberg, MD, CM, FRCPC, FCCMG, is Director of the Metabolic Service for the Program in Genetics and Metabolism of the Winnipeg Regional Health Authority. She is also a Distinguished Professor in the Departments of Pediatrics and Child Health & Biochemistry and Medical Genetics at the University of Manitoba and Clinical Scientist, the Children’s Hospital Research Institute of Manitoba.

Why researchers need the rare disease strategy, by Dr. Kym Boycott and Dr. Alex Mackenzie

The world of rare disease research, not unlike that of rare diseases itself, is remarkably diverse, comprised of researchers from many parts of Canada from all disciplines working on all aspects of rare diseases. It is exactly this diversity that makes the necessity of the Rare Disease Strategy all the more vital.

In addition to its planned goal of increasing the overall amount of rare disease research activity, the Rare Disease Strategy offers the opportunity of linking these moving parts into a more synergistic whole, resulting in a more effective, more productive community that, ultimately, yields more benefit for patients.

One of the obvious goals of the Strategy is to increase the number of diagnoses of rare diseases. Currently, fewer than half of Canadians affected by a rare disease have a diagnosis, which has huge implications for unnecessary use of health resources as different treatments and procedures are undertaken, not to mention the impact on patients and their families. The strategy calls for greater accessibility to DNA testing to improve diagnosis rates. With this comes the opportunity to unite the country with shared research resources and infrastructure to ensure that the diagnostic rate is as high as possible, enabling discovery of new genes and associated understanding of disease mechanism. This is not just an important step forward for rare diseases, but the introduction of such largely DNA-based interrogation and associated data-sharing is regarded as critical step towards personalized medicine for all Canadians.

In addition, a number of critical downstream elements essential for rare disease research shall also benefit from the Strategy. The determination of the true frequency of a given disorder, the establishment of what is known as its natural history (i.e. the severity, which systems are impacted, the physical signs and symptoms and overall longevity), the clear delineation of best practices in managing a given condition and, obviously, the configuration of effective therapies are all overarching goals of research on any given rare disease and necessary elements that must be coordinated to ultimately improve the lives of patients living with rare diseases.

The Rare Disease Strategy plays a vital role in clearly delineating these goals and giving us an important roadmap forward, including significantly accelerating national dialogue among the disparate rare disease researcher community. We need it.

Dr. Kym M. Boycott, PhD, MD, FRCPC, FCCMG, and Dr. Alex MacKenzie, PhD, MD, are both Clinician Scientists at Children’s Hospital of Eastern Ontario Research Institute in Ottawa and Professors in the Department of Pediatrics, University of Ottawa. Dr. Boycott’s research, bridging clinical medicine to basic research, is focused on elucidating the molecular pathogenesis of rare inherited diseases using genomic sequencing approaches. Dr. MacKenzie’s research is focused on the identification of treatment modalities for inherited pediatric disease using the neuromuscular disorder spinal muscular atrophy as a model for the repurposing of clinically-approved agents.

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