B.C. patients, researchers look to raise awareness of rare MPS disease

Fundraiser aims to raise awareness of rare disorder
WATCH: Aaron McArthur talks to a B.C. woman who has a rare disorder almost no one has heard of, fighting the condition that took her brother.

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.

WATCH: (Aired April 10) Families raise awareness of rare diseases

Families raise awareness of rare diseases
Families raise awareness of rare diseases

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.

Story continues below advertisement

“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.”

READ MORE: ‘Needle in a haystack’: Stem cell drive seeks match for man with 2 rare forms of cancer

‚ÄčThere 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.

READ MORE: ‘You don’t plan for grief of this kind’: father of baby who died of aHUS speaks for first time

“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.

WATCH: (Aired Oct. 25, 2018) B.C. boy with terminal illness given comfort and support

Variety Week: B.C. boy with terminal illness given comfort and support
Variety Week: B.C. boy with terminal illness given comfort and support

“It is a devastating disease,” she said. “We are often the first responders to families when they get the diagnosis.

Story continues below advertisement

“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.”

Tweet This

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.

READ MORE: SFU student could lose $750K life-saving drug if his kidneys don’t improve

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.