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
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
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
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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