The disease is so rare, you’ve probably never heard of it.
But one in 25,000 children is diagnosed with mucopolysaccharidosis (MPS), a birth defect that leaves patients without an enzyme that breaks down complex sugars. The sugars build up in the joints of the patients, leaving them with mobility and growth challenges.
One patient, Natasha Kaweski, has an even rarer form of the disease called Morquio A. Now 24, she uses a motorized wheelchair to get around after surgery several years ago left her a paraplegic.
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She and her older brother Damien were both diagnosed with the condition when they were babies. Damien died just after his eighteenth birthday from complications of the disease. Natasha says the two were close growing up.
“The disease presented very differently in both of us,” Kaweski said. “He needed way more surgeries than me, but because the disease is so rare, he was the one person who understood what I was going through.”
There are treatments for most of the forms of MPS. As long as kids are diagnosed early, the treatments can slow down and even improve some of the most debilitating symptoms.
Dr. Lorne Clark is the only researcher in B.C. working on MPS, and has been studying the disease since the 1970s.
“Without treatment, the lifespan of some of these kids was 10 to 15 years. Now with enzyme replacement therapy, we are seeing young adults, even patients who are in their 40s,” says Clarke.
Because the disease is so rare, getting funding to improve treatments or bring down the cost is difficult.
The Canadian MPS Society is trying to raise people’s awareness. The society’s executive director Kim Angel believes if more people know about the disease, more can be done to ease the suffering it causes.
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“It is a devastating disease,” she said. “We are often the first responders to families when they get the diagnosis.
“For a number of years, parents were told to take their babies home and just love them. No one knew how long they had to live.”
Unfortunately, Kaweski’s form of Morquio A has taken an early onset, so she’s not eligible for treatment. That’s why researchers are hopeful a cure is in sight.
A gala will be held at the Vancouver Club on May 15 to mark MPS Awareness Day and raise money for research and other services provided by the Canadian MPS Society.
BC Place will also light up purple on May 13 to recognize people living with the disease.