A Rare Disease Advocate: Daring To Thrive
Patient Perspective Simon Ibell shares his journey battling MPS II, with a message of inspiration for rare diseases patients to know that, in spite of a disease or diagnosis, they can still reach for what is possible.
Nine times in his life, Simon Ibell was told he wouldn’t live to see the next year.
The first was when he was nearly two years old. His mother, Marie Ibell, had noticed his gait was off. At first, the pediatricians sent them home. They went on a global odyssey for a diagnosis and got one: Hunter disease or mucopolysaccharidosis II (MPS II), an ultra-rare genetic condition.
“They told my mom I wouldn’t live to see the next year...that was in 1979 and now we’re here in 2015,” says Ibell.
A rare disease advocate
At age 37, Ibell is a renowned speaker, visionary and advocate for his own disease, and the rare diseases of others. In 2010, he founded the iBellieve Foundation, which strives to find a cure for MPS II and 50 related disorders.
“My disease has never defined me,” he says. In 2002, he graduated from the University of Victoria with a degree in Sports Administration. When he was 24, he cycled 500 kilometres on Vancouver Island, raising $250,000 for MPS research in just ten days.
“They told my mom I wouldn’t live to see the next year...that was in 1979 and now we’re here in 2015.”
“I just got on with it,” he says. “My attitude was very determined. This is what I have to deal with, and I just got on with it. It served me really well.”
In 2003, he jumped at the opportunity of a lifetime, uprooting his Victoria life to take part in a clinical trial at the University of North Carolina Medical Center. He moved to Toronto so he could commute to North Carolina. That treatment ultimately stabilized his condition.
Recycling at a cellular level
Ibell explains his disease like this: “If you didn’t have a way to recycle or get rid of your garbage in your kitchen that what’s happening in every system of an MPS II patient’s body.”
There are 11 different types of MPS, says Jamie Myrah, the Executive Director of the Canadian MPS Society, but all of them lack the enzymes necessary for normal cell recycling and degradation, causing substances to build up in cells throughout the body.
She advises parents to watch for a “clustering of odd symptoms” in their child such as corneal clouding, frequent ear, nose and throat infections, joint stiffness, cardiac abnormalities and airway obstructions. Bone deformities and delayed growth are also common.
MPS patients face barriers where their prohibitively expensive treatment is not funded by the government or insurance providers, she says.
“But there’s a lot of courage and hope out there. It’s amazing to see what has happened over the last 10 years. The science is there, the technology is there now to really cure diseases like this, and these children grow up to live normal productive lives,” she says.
The rare dare
For Ibell, advances in treatment enabled him to continue to make a difference in the lives of others.
In February, his organization launched the ‘Dare 2 Be Rare’ social media campaign, which encourages people to invite friends to take a “rare dare” and to raise or donate money if their friend does the dare. The campaign is raising funds for rare disease organizations, including his own, and highlighting the issues around rare diseases.
“The ironic thing with rare diseases is that individually they’re rare. Collectively, they’re not rare at all,” he says.