They unintentionally become extremely rare cases that few doctors understand. They carry with them courageously what is called "a rare and orphan disease".
These diseases that we would rather ignore
For many, the very term "rare and orphan disease" is disturbing. It carries a reality that we imagine relentless and filled with pitfalls: loneliness, illness and suffering. A reality that we prefer to observe from afar, very far in fact, or with half-closed eyes ... We don’t want to know too much. We prefer to stay away because for every parent, it is difficult to be confronted to the fragility of life, especially when it concerns children. And that's what rare and orphan diseases remind us of: the fragility of a healthy life.
So why talk about it? Why talk about something so troubling and moreover uncommon? Because behind this terminology hides the reality of exceptionally strong families who are fighting against diseases that are often chronic, progressive and fatal.
Understanding rare and orphan diseases
As the name suggest, "rare and orphan diseases" are discrete and unflashy. Their low prevalence – by definition, a disease is considered rare when it affects less than 1 in 2000 people - and their great diversity make their voices difficult to hear. Their heterogeneous names, usually given in honor of the researchers who discovered them or by the scientific name of the disease, do not help in even remembering that they exist. Who remembers ever hearing about leukodystrophy or Tay-Sachs’ disease? Yet these diseases have already been reported on in the mainstream public media and Tay-Sachs is considered "frequent" in Quebec . Only a few rare and orphan diseases are "lucky" enough to be better known by the public, such as cystic fibrosis or muscular dystrophy. Very few of these diseases have an international star or telethon to represent them.
Rare and orphan diseases are thus forgotten by the general population, but also by the healthcare system. That’s the reason why we call them “orphan diseases”. Because they are so rare, they are often neglected by research and therapeutic development and many of them remain without treatment and medication.
The rarity of these diseases leaves families in a state of great loneliness and vulnerability. They often have no one to talk to, see or even compare to. Gail Ouelette, geneticist, approved genetic counselor and President of the Regroupement Québécois des maladies rares et orphelines (Quebec Coalition for rare and orphan diseases), says that this distress, due to the lack of information, support and resources, is constantly reported by people who contact the RQMO for the first time.
Due to the lack or resources, these parents often become experts in their child’s illness. Ms. Ouellette says, "According to a recent survey conducted among RQMO members, 50% of participants reported having received little or no information about their disease when they received the diagnosis. In most cases, they have to inform health professionals about the nature of their child’s illness." These families can no longer rely on the usually reassuring expertise of physicians. They become the only defendants of the disease and well-being of their child. They often have to do the research on the ideal type of medical care or the existence of a possible treatment, coordinate the many specialists needed for the well-being of their child, provide information and educate people around them about the disease - including health professionals. In short, they are constantly on the lookout. They can’t take a break because their child’ health is at stakes, and so is their future. And that’s probably one of the biggest pains for the families of these exceptional children: having no one to reassure them about the future of their child.
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.
