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What you need to know about rare diseases

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Does your child or someone you are caring for have a rare disease?

How to accompany a child or a person with a rare, very rare or orphan disease? Tips for dealing with diagnostic errance and the many challenges that lie ahead.

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What should I know about rare diseases?

There is a difference between rare, very rare and orphan diseases. However the criteria vary from country to country. In general, we can say that:

  • A disease is said to be rare when it affects less than 1 in 2000 people;
  • There are approximately 7,000 rare diseases in the world;
  • Orphan diseases include rare diseases and diseases neglected by Western societies, which are more common in certain tropical countries. The name of the organization Regroupement québécois des maladies orphelines refers to this more inclusive concept. A disease is qualified as "orphan" when no treatment exists (apart from the treatment of symptoms).

700 to 800 rare diseases in Québec

Approximately 700,000 Quebecers suffer from or are carriers of a rare disease. Some diseases, although rare, are known to Quebecers, for example:

  • Cystic fibrosis, a fatal disease that affects children and young adults;
  • Congenital lactic acidosis, particularly known in the Charlevoix Saguenay-Lac-Saint-Jean and Upper North Shore regions, where 1 in 2,100 newborns is affected.

Other rare diseases among the 700 to 800 found in Quebec are very little known. For example, in the following Caregiver Podcast, you will learn that:

  • Romy, the daughter of comedian Jean-Nicolas Verreault, has Nager Syndrome;
  • Alphée, the daughter of ecosociologist Laure Waridel, has Smith-Lemli-Opitz syndrome;
  • Dylane, the daughter of Marilyne Picard, MP for Soulanges, has a very rare disease, so rare that it has no name.
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In the podcast (in French), Alphée's caregivers and brother talk about their journey from exhaustion to diagnostic errance to happiness. What about you, where are you in your journey? How is the person you are caring for being cared for? What are your own needs?

Diagnosis and treatment

Rare disease pathologies include autoimmune, infectious, toxic, malformative and some cancers.

Diagnosis is an issue:

  • Many parents and relatives report that in some cases the diagnosis can take several years. 40 to 50% of people with a rare disease would go without a diagnosis. Diagnostic errancy complicates the daily life of families and forces them to help without knowing the diagnosis;
  • The Plan d'action québécois sur les maladies rares 2023-2027 (Quebec action plan on rare diseases 2023-2027) provides for the improvement and development of screening and diagnosis.

Family members report difficulties in accessing treatment:

  • Currently, 90% of rare diseases have no actual treatment;
  • Treatment or not, people with rare diseases need care and services. Steps have been announced to improve access to medications. The action plan includes improving access to care and services and better training for clinicians and professionals;
  • 80% of rare diseases are genetic; scientific research is focused on inherited diseases and genetic health determinants.

Many diseases, common difficulties

While the diseases are numerous and diverse, the difficulties are shared. Thus, for the children and people affected, for the family and caregivers:

  • Access to care, medication, services and various resources, particularly in the rural areas, is difficult;
  • Management by the health network, whether or not the diagnosis has been made, is an issue;
  • Access to resources and referrals is complicated and there is a serious lack of information, which is even more pronounced for certain very rare diseases and in cases of diagnostic errance.

These factors mean that caregivers often experience:

  • Isolation. While you devote a lot of time to your child or the person you are caring for, friends and extended family distance themselves from you, colleagues wonder about your repeated absences and you feel that doctors avoid you. Caregivers can rarely share their experiences because they don't know anyone who has the same disease;
  • Daily worries, sometimes amplified by diagnostic errance leading to helping without knowing the diagnosis;
  • Doubts, especially if the diagnosis is delayed. You may doubt your own observations or those around you may doubt you, often with tangible consequences on your personal and love life;

Emotions and guilt, especially when it comes to asking for respite, home care or other services adapted to your needs.

Questions and possible solutions

My daughter has Li-Fraumeni syndrome. Is there a support group for this disease? I can't find one!

Your daughter's illness is specific, but the issues you are experiencing are similar to those of other caregivers: exhaustion, questions about the child's placement, difficulty accessing certain care. So joining a caregiver support group may be a good idea for you. There are also telephone helplines, such as the Caregiver Support Helpline, where you can get help.

How do I get health care professionals to work with me? I feel like they don't take me seriously when I describe my baby's symptoms. This has been going on for 15 months.

It's not easy for you! Doctors don't always know how to react when the symptoms don't match their training. The consequences are serious: isolation, stigma and doctor-hopping. The action plan addresses this issue of caregiver training directly.

The hospital team and I have been searching for months for the cause of my child's symptoms. He doesn't understand what is going on.

75% of rare diseases affect children. His absences from school, his difference, questions from his friends, all this is not easy for him. Here is a wonderful selection of books for children and teenagers to enjoy.

A rare disease policy and action plan is good, but what does it mean for my brother with Huntington's disease?

The 2023-2027 action plan takes into account the reality of people with rare diseases, their caregivers and families; it provides for improved care. You can also register with the Registre maladies rares Québec (Quebec Rare Disease Registry) to help advance knowledge by providing data on the rare disease of your child or person you are caring for, with the goal being to advance research.

My daughter is 17 years old. She has a rare disease and cannot live independently. She is approaching the age of majority.

Yes, there is a transition from a pediatric care setting to an adult care setting.

It may be a question of the establishment of a protection regime. Do not hesitate to inquire about the new assistance regime for adults proposed by the Curateur public du Québec.

In 2021, notary Joanie Lalonde-Piecharski published a book entitled Au-delà des 18 ans. Préparer le passage à l'adulte et l'avenir de votre enfant différent [in French].

I don't consider myself a caregiver, I am the mother of a child with cystic fibrosis.

Of course, you are first and foremost a mother. L'Appui pour les proches aidants has developed a page of practical advice entitled Being a parent caregiver; recognizing yourself as a caregiver can open doors to resources tailored to your needs and help overcome your isolation. You are not alone: 1 in 3 adults in Quebec is a caregiver.

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