Shining a Light on Rare Disease Care in Ontario

Shining a Light on Rare Disease Care in Ontario

“Imagine you were diagnosed with a rare disease that affects 1 in 5,000 people. Where would you go to find the support that you need? Who would provide you with the proper health care?”

Imagine you were diagnosed with a rare disease that affects 1 in 5,000 people.1 Where would you go to find the support that you need? Who would provide you with the proper health care? This is an ongoing struggle that many rare disease patients face as they try to find personalized care. Fortunately, Ontario is taking a step to change this. In February 2017, the government of Ontario began implementing the Patients First: Action Plan for Health Care.2 This new plan provides rare disease patients with better quality and faster access to the right care, all through the creation of a new clinic, focused on diagnosing and treating adults and children with Ehlers-Danlos Syndrome (EDS).2


“This new plan provides rare disease patients with better quality and faster access to the right care, all through the creation of a new clinic, focused on diagnosing and treating adults and children with Ehlers-Danlos Syndrome.”

Not only is this health care plan going to improve the lives of those with EDS, but it will foster discussions and action towards future rare disease research and health care improvements. Ontario's 2016 budget proposed increases to health care spending by $1 billion, and now, $991,000 of that funding will be going directly towards the creation of the EDS clinic, run by the Hospital for Sick Children and the University Health Network in Toronto.3 The creation of a clinic focused on EDS is in direct response to the Ehlers-Danlos Expert Panel, which suggested ways that the Ontario health care system could better support people living with this genetic disorder.4 Established in 2015, this panel combined the expertise of medical professionals, who have direct experience treating patients with EDS, and the insight of patients and their families.2 Together, the panel suggested the formation of the EDS clinic to strengthen care and support for people living with EDS by offering primary care providers a single point of contact.2 The clinic is being designed for medical professionals to receive disease-specific training on related signs and symptoms, receive advice and feedback from clinical experts on diagnosis and treatment options and make referrals to specialists including geneticists, paediatricians and pain management professionals.2 Therefore, not only does this allow for better treatment for patients, but it will provide the health care system with a better means of diagnosing and caring for EDS patients. The Health Minister, Dr. Eric Hoskins, summarized the tremendous impact of this clinic, explaining, "The new initiatives our government is pursuing will help people living with Ehlers-Danlos Syndrome and other rare diseases access the supports they need so they can receive the highest quality of care close to home."2,3


“Not only does this allow for better treatment for patients, but it will provide the health care system with a better means of diagnosing and caring for EDS patients.”

The new clinic will be entirely focused on EDS, so what exactly is it? EDS is a rare inherited disease that is clinically classified into thirteen subtypes, each of which has a specific set of major and minor criteria that can help with the differential diagnosis of patients.1,5 Each subtype, although slightly different, affects the connective tissue supporting many body parts, from skin to muscles and ligaments.1 Across all subtypes, people with EDS generally experience chronic pain, joint dislocation and lost vision due to the destruction of their ligaments, which function to hold bones and tissue together.1,2,5 Diagnosis of an EDS subtype is done by assessing the severity of the symptoms, and even though it is inherited, children can possess the disease without either parent ever having it.1,5 Currently, the genetic mutation that corresponds to the disease is unknown, and thus, diagnosis can be especially difficult.1,5 Moreover, as the disease affects both adults and children, there are very few markers for health professionals to test in order to diagnose EDS and one of its subtypes.5 Thus, the clinic is integrating ongoing research into clinical activities through a database customized to record all relevant data related to EDS for health care workers.6 Therefore, the creation of this clinic will be remarkable for helping provide health care workers with enough understanding of the disease to correctly and quickly diagnose each unique case of EDS, and with no present cure, allow for proper preventative measures to be taken as soon as possible.


“The new initiatives our government is pursuing will help people living with Ehlers-Danlos Syndrome and other rare diseases access the supports they need so they can receive the highest quality of care close to home.”

The Patients First: Action Plan for Health Care is only the first step that Ontario and its health care system is taking towards rare disease care and support. Dr. James T. Rutka, Co-Chair of the Ehlers-Danlos Syndrome Expert Panel, explained how "The establishment of the joint adult and pediatric EDS clinic is a big step forward in providing multidisciplinary care and treatment for EDS patients in Ontario. This important model may also serve the needs of patients in the future who have similarly rare and complicated disorders."2,4 Not only will the clinic serve as a model for the future, but the province is also creating a working group to explore how services for people with rare diseases in Ontario can be improved.2 The province states that the working group will be Ontario experts who will look at how to improve early detection and prevention, provide timely and accurate diagnosis and care and improve community supports for rare disease patients and their families.2 Even further, Ontario is currently co-leading a pan-Canadian Rare Disease working group with British Columbia and Alberta to develop a national strategy to improve access to pharmaceuticals for rare diseases and address their high costs.2 Therefore, as Ontario continues to highlight the necessity of rare disease research and health care, we can only hope that this will spark a change within Canada’s health care system and even across our borders to give rare disease patients the care, support and health they so greatly deserve.


“...this will spark a change within Canada’s health care system and even across our borders to give rare disease patients the care, support and health they so greatly deserve.”

Works Cited:

1. What are the Ehlers-Danlos Syndromes? The Ehlers-Danlos Society. http://ehlers-danlos.com/what-is-eds/. 2017.

2. New Clinic for People Living with Ehlers-Danlos Syndrome: Ontario Improving Access to Care for People with Rare Diseases. http://www.health.gov.on.ca/en/news/bulletin/2016/hb_20160229.aspx Published February 29, 2016.

3. The Canadian Press. Province invests almost $1M in new clinics for EDS and other rare diseases. CBC News. http://www.cbc.ca/news/canada/toronto/ontario-care-for-rare-diseases-1.4001355. Published February 27, 2017.

4. Ehlers-Danlos Expert Panel Report: Report to the Ministry of Health and Long-Term Care. http://www.health.gov.on.ca/en/common/ministry/publications/reports/eds/eds_expert_panel_report_en.pdf. Published December 3, 2015.

5. Castori M. Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations. ISRN Dermatology. 2012;2012:1-22. doi:10.5402/2012/751768.

6. Just in time for Rare Disease Day: New SickKids/UHN clinic for EDS patients officially opens. Sick Kids. http://www.sickkids.ca/AboutSickKids/Newsroom/Past-News/2017/Rare-Disease-Day-SickKids-UHN-clinic-EDS-patients.html Published February 28, 2017.


Cite This Article:

McKee H., Chan G., Palczewski K., Lewis K., Ho J. Shining a Light on Rare Disease Care in Ontario. Illustrated by Priska Taarea. Rare Disease Review. February 2018. DOI:10.13140/RG.2.2.19794.66248.

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