Conquering a Mountain called Life

by Simon Ibell

Do you remember Junior High School and High School where all you wanted to do was fit in, maybe make one of the sports teams and experiment with the dating scene? That was not part of my experience because I was born with a condition known as MPS II (Mucoploysaccharidosis Hunter's Syndrome). My life was like playing solitaire with one missing card and in my case the missing card was the enzyme iduronate sulphate sulphatase, which breaks down mucopolysaccharides in the body. As a result, those mucopolysaccharides are incompletely broken down and remain stored in the cells of the body with unpleasant and often fatal results. The damage is progressive and can affect respiration, enlargement of major organs along with shortness of stature, loss of hearing, arthritic like restriction of joint movement and vision impairment. In my case it was all of the above.

At 14 years old when my peers were worrying about zits, clothing and hair, I talked my parents into ending the medical odyssey we had been on to seek a cure for my condition. My task was to get people to see the real Simon and not the packaging. I needed them to enjoy my sense of humor, to share my dreams and to treat me as 'one of the boys'.

All kids have dreams, few of which are fulfilled. I had my own dreams, but in my case the realities in my life have far surpassed my teenage dreams. I've always had a love of sport and although I could never make an elite team, I could be part of one by being a dedicated team manager. Throughout high school I managed both Junior and Senior boys' basketball and rugby teams, embarking on a fabulous United Kingdom Rugby Tour in Grade 10. At the University of Victoria I managed the men's basketball team for several years as well as assisting the Canadian National Team for four straight summers. The athletes knew that I dealt with pain on a daily basis, but that I would push myself to always be prepared and to assist the team in whatever way I could.

I slowly realized that my positive demeanor, laughter and example actually inspired the people who were now my teammates. In one of those wonderful inversions I was now a role model for people who had been the role models for me.

As a teenager in high school it would have been hard to dream up what's actually happened in my life. The people I have met through my involvement in sport have been incredible and provided me the opportunity to make close friendships with so many wonderful people, such as Steve Nash (Dallas Mavericks/Phoenix Suns), Roland Green (World Mountain Biking Champion) and Simon Whitfield (Olympic Gold Medalist-Triathlon).

I've had experiences I couldn't have imagined as a youngster, seeing the inner circle of the NBA and the dedication and determination of elite superstar athletes. I completed a leisure studies degree in the School of Physical Education at the University of Victoria. I led a bike ride the length of Vancouver Island and was supported by a host of elite athletes and friends. At the 2003 Canadian Sports Awards I won the Spirit of Sport Story of the Year Award on National TV over figure skaters David Pelletier and Jamie Sale and cross-country skier Beckie Scott. Olympic Gold Medal winners all.

Currently I have embarked on perhaps the ultimate wish fulfillment phase of my life. I was offered a chance to be a participant in clinical trials for an experimental treatment protocol, which has the potential to prolong my life and stop the progression of my disease. Participating in these clinical trials meant putting my life on hold, leaving my friends in Victoria and relocating to Toronto, from where I could commute each week to Chapel Hill, North Carolina for lengthy intravenous injections of I2S (or a placebo). This was all inconvenient and time consuming, but inconvenience is a small price to pay for the possibility of improved physical functioning and perhaps many bonus years when I can become a spokesperson for others dealing with MPS and other genetic anomalies.

With friend Alex at week 1 of treatment

As in most experimental procedures all has not gone smoothly; at one stage by body reacted violently to the genetically modified enzyme (I2S) at which point I had to be put on a dose of hard to tolerate pre-medications (steroids and antihistamines), which preceded the enzyme replacement therapy. Listening to my body it's not been difficult to figure out that I get the placebo and I2S on alternating weeks. The 'real thing' gives me an initial pain and exhaustion followed by improved breathing, flexibility and energy.

I've actually grown 1/2" (a 1% increase) and can breathe more easily, my liver has shrunk and I've got more use (although more pain) from my fingers. Dr. Joseph Muenzer and his research team have given me new life. Starting this month I will be guaranteed to receive enzyme replacement every week, and hopefully in a few months time at a little closer location than Chapel Hill.

One of my biggest challenges in living with MPS II has been that I have way more confidence in my own abilities than others. It's natural for family and friends to wish to 'protect' me, but sometimes their fears can become an added burden, but it's one to which I have to adjust. Without the support of my family and friends I wouldn't be sitting down to write this article.

My family

As the old song goes, "My future's so bright I have to wear shades." I see continued physical progress, a masters degree and a major physical challenge in the form of a trek up Mount Kilimanjaro. I'm already enlisting co-climbers and am beginning training for another peak performance.

N.B. Everest climber Rob Dyke has already volunteered his services. "Let me know about Kilimanjaro, I would love to go and I have some great climbing connections in South Africa. If Simon needs a Sherpa I will do it for a dollar."

For Simon's more detailed and clinical account of his enzyme replacement therapy click here to have it open in a separate window. If you would like to contact Simon, please email him at this address Simon@mpssociety.ca.