Rare genetic disease that affects many families in Quebec
MONTREAL, May 15, 2014 /CNW Telbec/ - The Regroupement québécois des maladies orphelines (RQMO) is joining the Quebec Mucopolysaccharidosis (MPS) Community to mark International MPS Awareness Day. Quebec families touched by Morquio A, and the MPS community will unite to raise awareness of the many forms of MPS and other related rare genetic diseases, and to strive towards improving the lives of the patients affected.
MPS IVA, or Morquio A Syndrome, is a disabling, debilitating and progressive genetic disease affecting metabolism that substantially impacts both the quality and length of life of those affected by it. Morquio A affects approximately 3,000 people in the developed world; in Canada, the highest incidence of the disease is found in Quebec where approximately 40 patients are affected.
To date, there is not yet an approved treatment for Morquio A in Canada that addresses the underlying cause of the disease; there is only supportive care that treats its symptoms, which may include: abnormal development of bones, including the spine and rib cage, cardiac and respiratory complications, and hearing and vision impairments. Children and adult patients often have stunted growth and limited mobility. Mucopolysaccharidosis also causes chronic pain and fatigue, and limits daily activities. Supportive care includes medication, multiple surgeries and ongoing physical therapy.
"As with many rare diseases, individuals with Morquio face many barriers in the health system and in society, for example with the diagnosis, care and treatment. Finally, a first treatment for MPS IV-A has been approved in the United States. However, this type of medication is often not reimbursed by public drug insurance in Canada because it is improperly evaluated or there are unfavourable of economic considerations. We hope that when Health Canada approves the treatment for Morquio A, the Quebec government will provide immediate and equitable access to this first drug for patients in Quebec, as it is already the case in other countries," said Gail Ouellette, General Director, RQMO.
The Bouchard-Levasseur family understands the impact the disease has on those living with the debilitating disease all too well. With two children affected by Morquio A Syndrome, the Kamouraska residents say that the disease has a significant impact on their daily lives. "The diagnosis of our eldest child, Loïk, with Morquio A helped us get an earlier diagnosis for our younger son, Louka. Although Loïk underwent a very difficult and challenging surgery for spinal decompression and cervical fusion to increase his mobility and endurance, there is currently no treatment available to him that can guarantee his long-term stability," says Annick Levasseur.
"With two children between the ages of five and eight affected by this disease, we have had to change our family routine. The restrictions on certain physical activities, including basic things like walking, reduce the number of leisure activities available to us. Although my sons have an atypical growth caused by the disease, they are making their way, and they can count on the support of our community of Kamouraska."
The Bilodeau-Poulin family also understands the challenges Morquio A presents. "My 21 year old daughter, Mélissa, and my 18 year old son, Olivier, both live with Morquio A. Together, we have overcome many challenges, including hip, neck and back surgeries for Mélissa, as well as home renovations to facilitate their mobility and allow them to have greater independence," says Geneviève Poulin. "The disease was not well known at the time, even in the medical community, and we had to fight to get a correct diagnosis. We are happy that research is evolving and that treatments are finally becoming available that may help slow the disease's progression. Mélissa has had the opportunity to be part of promising clinical trials that could be instrumental in improving her quality of life, by allowing her to improve her endurance and motor skills."
RQMO is proud to be supporting these families and the entire Quebec Morquio A community in their efforts to raise awareness of this ultra-rare, life-limiting disease and to highlight the urgent need for treatment options to improve patients' quality of life.
About Morquio A Syndrome
Morquio A Syndrome, or mucopolysaccharidosis IVA (MPS IVA), is a disease in which people are missing an enzyme that is essential in the breakdown and removal of the mucopolysaccharides called keratan sulfate. The incompletely broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. This excessive storage causes a systemic skeletal dysplasia, short stature, and joint abnormalities, which limit mobility and endurance. Malformation of the chest impairs respiratory function, and looseness of joints in the neck cause spinal instability and potentially spinal cord compression. Other symptoms may include hearing loss, corneal clouding, and heart disease. Initial symptoms often become evident in the first five years of life. The disease substantially limits both the quality and length of life of those affected.
The rate of incidence of Morquio A is as yet unconfirmed and varies among different populations, and estimates vary between 1 in 200,000 live births and 1 in 450,000 live births. The estimated prevalence is approximately 3,000 patients in the developed world.
Regroupement Québécois des Maladies Orphelines (RQMO) unites 26 rare disease associations, together with individuals with a rare disease and family members or caregivers of individuals. The mission of RQMO is to inform and educate while providing support to patients suffering from rare and orphan diseases, as well as their families and health professionals through a web portal and by phone. The RQMO also works to advance knowledge and research by facilitating collaboration between patients and researchers.
SOURCE: Regroupement québécois des maladies orphelines
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