Rare diseases: helping amidst the unknown

28 February 2022

Rare diseases: helping amidst the unknown

The 14th International Rare Disease Day will be held on February 28, 2021. The diseases might be rare, but the people affected are many.

28 February 2022

In reality, February 29 is the date chosen to celebrate International Rare Disease Day.
What better date to symbolize this special day than the rarest date on the calendar (February 29 only occurs once every four years)?

And every time that there is no February 29 on the calendar, then the International Day is held on the 28th. The diseases might be rare, but the people affected are many.
In Quebec alone, we estimate that nearly 1 in 20 people has or is a carrier of a rare disease; this is nearly 500,000 Quebecers. They have cystic fibrosis, lupus, Li-Fraumeni syndrome, Huntington’s Chorea, etc.

The number of rare diseases oscillates between 7,000 and 8,000 and at the moment, 90% of rare diseases have no treatment. While it is estimated that 50% of sufferers do not have a specific diagnosis, it is understood that they are adapting to a very fluid context, just like their loved ones. Even when a diagnosis is made, the course of action is no simpler. How is taking care of a loved one with a rare disease different?

Numerous but unknown diseases

A rare disease affects less than 1 person in 2,000 in a population. It is described as an “orphan” disease when no treatment - other than alleviating symptoms - exists.

Approximately 80% of rare diseases are genetic. Other causes can include immune deficiency, infections, toxins, teratogens (toxins or infections during pregnancy), etc. In many cases, in the absence of a known cause, the diagnosis remains unclear and the disease, undefined.

“ When you hear the sound of hooves behind you, you do not expect to see a zebra.”

- The zebra became the symbol of rare diseases in reference to this quotation from Dr. Théodore Woodward, professor in the Faculty of Medicine at the University of Maryland in Baltimore. It dates back to the late 1940s.

While waiting for the diagnosis...

Given the rarity of their conditions and the lack of knowledge surrounding rare diseases in the general medical community, people with such diseases face lengthy waits to obtain a diagnosis and sometimes never receive one at all.

If you recall, in nearly half of cases, a specific diagnosis is not reached. Some people will never be able to put a name to their ailments. Caregivers are thus a valuable support for patients who must go to many consultations and undergo many tests and examination.

The trial-and-error period known as “diagnostic delay” often gives rise to feelings of anxiety and even anger. Added to this frustration is the difficulty in obtaining services: without a diagnosis, caregivers cannot receive adequate support for their loved one.

And after?

Generally speaking, caregivers are faced with a lack of knowledge in all medical bodies.
They receive little information, because rare diseases are – by definition – not well documented. The relatively common services available for people with Alzheimer's or ALS, for example, have very few if any equivalents for those with rare diseases. In the absence of associations or support groups, caregivers can rarely share their experience, because they don't know anyone with the same disease.

People with a rare disease and their caregivers are at risk of isolation, a risk that can be exacerbated by the lack of knowledge of friends and family about the disease, feeding their misunderstanding.

The Groupe de travail québécois sur les maladies rares, created in 2018, published a report (in French only) in 2020, with a view to issuing general strategic recommendations with respect to organizing care and services for managing this clientele. Follow-up on the recommendations will be provided by the Comité consultatif québécois pour les maladies rares, whose work began on June 16, 2020.

This is a first step toward a possible consolidation between the medical, academic and government sectors, so that the post-diagnosis path of caregivers and people with such diseases has fewer hurdles.

Le Regroupement québécois des maladies orphelines (RQMO)

If you are helping someone with a rare disease, know that the Regroupement québécois des maladies orphelines (RQMO) is there for you.

The organization, which celebrated its 10th anniversary on February 29, 2020, supports people with rare diseases and their caregivers who have no association specifically for their disease. Through its actions, it has implemented the iRARE Centre, a rare disease information and support centre, the only one of its kind in Canada, which provides free, bilingual, professional and personalized service.

The aforementioned work group is also the result of its efforts.

Thank you to Gail Ouellette, founding president and scientific director of RQMO and the iRARE Centre, for her valuable contribution to the writing of this article. For information or advice, you can contact the RQMO by phone at 1-888-822-2854 or by email at info@rqmo.org .


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