Hunter syndrome sufferer left behind by Ontario drug plan 11-year-old boy's family forced to consider U.S. for treatment Iqaluit NU
Hunter syndrome sufferer left behind by Ontario drug plan 11-year-old boy's family forced to consider U.S. for treatment
(NC)-At only 11 years of age Szymon Cajmer is already in a fight for his life.
That's because Szymon is living with a rare genetic disorder known as MPS II or (Hunter Syndrome) and his family is in a race against time to gain access to a potentially life-saving drug therapy.
The Windsor, Ontario family is threatening to move out west or to the U.S. so that Szymon can receive a life-saving enzyme replacement drug therapy called Elaprase which was approved by Health Canada last year, but is not funded in Ontario. It is the first and only therapy approved for the treatment of MPS II, and halts the progression of the disease. It is funded in B.C. and Alberta, and in many other countries throughout the world.
Hunter Syndrome is a very rare (four patients in Ontario) but devastating genetic condition caused by an enzyme deficiency. It appears in children as young as age two and nearly always occurs in males.
It occurs when the body lacks the enzyme necessary for breaking down molecules called mucopolysaccharides. Because the body can't break down these complex molecules, they build up in harmful amounts in certain cells and tissues and cause permanent, progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system leading to a vastly shortened lifespan.
Szymon's mother, Justyna Cajmer, is living the nightmare of helplessly watching her son's health deteriorate knowing there is a treatment available that could help.
"If Szymon doesn't receive the enzyme replacement therapy the progression of the disease will continue," explained Cajmer. "His organs will be more affected. His life expectancy will become shorter and shorter and his quality of life will worsen. There will be no more hope for us."
Szymon was diagnosed with Hunter Syndrome at the age of four. Since then the disease has taken a toll on his entire body. Three years ago he lost his hearing, his organs are now being compromised, his joints and hips are stiff and contracted, he has developed Carpal tunnel syndrome and his respiratory system has been affected.
According to Kirsten Harkins, the Executive Director of The Canadian MPS Society, MPS II is a progressive disease, so early intervention is critical. "We are fortunate that children in Alberta and B.C. with MPS II are receiving enzyme replacement therapy. It is urgent that children in Ontario have access as well to this treatment."
"I think it's a matter of basic human rights, that we're all equal from coast to coast and that we have the rights to the same treatment," added Cajmer. "It's in the Ontario Government's hands now, we need quick actions."
If the treatment will not be funded in Ontario Cajmer said the family will not have many options left. "Do we have to leave Ontario to go to another province or the U.S. to have access to treatment?"
She hopes not as uprooting their established life in the community would be a difficult and an unnecessary reality to bear. But not more so than the anguish of watching her son's health and quality of life deteriorate before her eyes. More information about MPS II and treatment options are available by visiting www.mpssociety.ca.