Maëlle’s story
Maëlle is 3 ½ years old, and we’ve been trying to find out what’s wrong with her for two years. Doctors can’t find anything. They have eliminated several possibilities: a metabolic disorder, Angelman syndrome, Rett syndrome, Dravet syndrome. Still nothing. It's the unknown, a huge void.
In our case, we started have suspicions when Maëlle was 1 year old. She didn’t walk, she sat down but have no protective reflexes, she smiled but never laughed, she wouldn’t eat anything but purees, she choked at the time. When we talked to her pediatrician, he told us to wait a bit and give her some time... Everyone was telling us that we were worrying for nothing. But I could feel that something was wrong. We had to wait until she was 18 months to finally be referred to a neurologist at Sainte-Justine Hospital. From that moment, testings and referrals to other specialists tumbled. But every time we had to wait ... wait for the results, wait for the consultation. For the geneticist, we had to wait for a year. They finally saw Maëlle during one of her many hospitalizations. Every time we met them, there was a new new lead to investigate, another 4 months to wait for results. We had to continually put pressure to ensure that they were still investigating... they have so many cases. With all these steps, the picture of the situation was gradually emerging: epilepsy, allergies, dysphagia, global developmental delay, gastric reflux. But no diagnosis, ever.
The hardest part in all of this is the loneliness and the unknown. We have no one to talk with, no one to share our reality with. We are completely alone in our situation: no association, no others children like our little girl. I often feel like everyone is traveling at high speed on the highway when we're alone on the service road, moving with difficulty and making a thousand detours to get where exactly? To an unknown destination. And that is terribly frightening: not knowing what will happen. I avoid thinking about the future because it’s too difficult. For now, I live from day to day and enjoy even the smallest progress made by our daughter. We are so proud of her. Our always smiling little girl has taught us to look at life differently...
Testimonial by Julie Vaillancourt, Maëlle’s mother
Good news
Since 2010, Quebec now has a coalition that unifies the various associations od rare and orphan diseases, the Regroupement Québécois des maladies rares et orphelines (Quebec Coalition for rare and orphan diseases). This group aims to raise awareness of this category of diseases, increase the quality of life and life expectancy of sufferers and promote scientific and clinical research in order to develop better care, treatment and diagnostic tools and prevention. Ms. Ouellette adds: "Also according to our survey, the three measures considered most important by participants corresponds in all points to the priority issues established by the RQMO: to better inform the public and healthcare professionals about rare diseases, promote and offer financial support to research and improve access to medication." And for the first time, during the first symposium on rare and orphan diseases, the government is committed to supporting the cause of rare and orphan diseases. It’s a big step forward.
Finally, to meet this need for information, the RQMO has set up a database specific to the situation in Quebec. "There was nothing comparable in Quebec. There was the international database Orphanet, but nothing specific to Quebec families. " It contains a wealth of information, from a bank of reliable and recognized resources to the names of existing associations, through testimonials and a matching service between patients of similar orphan diseases. In short, a wealth of valuable information for all those "extraordinary" people trying to understand what is happening to them.
Special thanks to Ms Gail Ouellette, President of the Regroupement québécois des maladies rares et orphelines, and Ms Julie Vaillancourt, exceptional mother, for their precious collaboration and generosity.
