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.
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:
Approximately 700,000 Quebecers suffer from or are carriers of a rare disease. Some diseases, although rare, are known to Quebecers, for example:
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:
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?
Rare disease pathologies include autoimmune, infectious, toxic, malformative and some cancers.
Diagnosis is an issue:
Family members report difficulties in accessing treatment:
While the diseases are numerous and diverse, the difficulties are shared. Thus, for the children and people affected, for the family and caregivers:
These factors mean that caregivers often experience:
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.
Gouvernement du Québec. Plan d'action québécois sur les maladies rares 2023-2027.
Gouvernement du Québec. Maladies rares.
L'Appui pour les proches aidants. balado
L'Appui pour les proches aidants. Maladies rares : aider sans connaître.
Regroupement québécois des maladies orphelines. Information sur les maladies rares et orphelines.
Need to talk?
Contact our Caregiver Support Helpline for counselling, information et referrals.
Every day from 8 a.m. to 8 p.m.
Free of charge.