Helping without knowing the diagnosis: a life in limbo
The testimonies back this up. In many cases, the diagnosis takes years to arrive. Sometimes, the diagnosis never arrives. It is estimated that 40 to 50% of people with a rare disease do not have a precise diagnosis. In Quebec, the average is 8 years before being diagnosed with a rare disease.
The situation is difficult for the children and adults affected because of the symptoms but also because they do not know how to deal with it. For those around them, this vague context complicates everything. How to help without knowing the diagnosis? What role should we adopt during this period? How do we get through this period of waiting that everyone hopes will be temporary?
Laurence, Margot's mother, tells us about her journey. The doubt, the discouragement, the isolation, the fatigue. The difficulty in projecting oneself. This unsettled life to get through. What happens when the diagnosis is made. The journey that remains difficult, because the disease finally identified is rare.