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.
