Mélissa and Olivier, sister and brother, with Morquio disease
It’s time we did something about rare diseases…everyone pays taxes so we mustn’t forget them. These people suffer terribly, and what’s more, they feel isolated, so they suffer doubly. By doing research, we prevent other cases and we also make several discoveries for common diseases…just think of umbilical cord therapies.
In my case, I have two children affected by an extremely rare disease, of which there are probably more than 300 known cases worldwide. The diagnosis was made when my daughter was 5 and my son 2 and a half. My children were very normal, running, playing, talking, in short the only worry was a small vertebra that protruded in my daughter’s back at the age of 6 months. I consulted several doctors for my daughter between the ages of 6 months and 5 years (it took a long time to get the diagnosis). In the meantime, I had my son who suffers from the same disease (Morquio syndrome). The geneticist told me when I was 10 weeks pregnant that everything was fine, that it was too expensive to do an amniocentesis. Anyway, in January 1998, my husband and I met to be told the terrible news for both of us at the same time… it’s a degenerative disease… fortunately I didn’t have a third child with my partner, it’s what we call the genetic lottery, one “chance” in several million… no, we’re not talking about chance here, but about RISKS. We were told “genetically, you’re not meant to be together” and finally, after 17 years together, my partner and I divorced. The couple didn’t survive, my partner drowned his sorrows in alcohol and I ate my emotions. 1 sick child +1 other sick child = 2 sick children and 1 sick parent + 1 sick parent = 2 sick parents. Shouldn’t we be talking about prevention? I’m not the only one; there are thousands of orphan diseases. Many people say Bravo to me…you are a strong and courageous woman…it’s because of my 2 wonderful children that I love more than anything else in the world. Today, my daughter Mélissa gets around in a wheelchair with the help of her service dog Mira, and she’s at CEGEP.
Geneviève, mother of Mélissa and Olivier
Morquio disease or syndrome
Mucopolysaccharidosis type IV (two forms: A and B)
MPS-IV
Morquio disease is an inherited, progressive disorder belonging to a class of diseases known as “lysosomal overload”. Glycoaminoglycans or mucopolysaccharides (large sugar molecules), which are normally eliminated or recycled by the body, accumulate in the body’s cells. Symptoms appear during childhood as a result of this accumulation, and present themselves as abnormal bone development, generally resulting in significant physical handicap and short stature, without intellectual deficits. Other body systems may also be affected (cardiac, pulmonary, auditory, etc.). The disease can vary greatly from one person to another.
Morquio disease affects boys and girls equally. Approximately one person in 30,000 is affected, born to parents who do not have the disease (they carry the defective gene, but are not affected). Two carrier parents have a 25% probability of having an affected child in each pregnancy.
Find out more about Morquio disease