| |
|
There always comes a point in an individual's life where he or she comes to a crossroad and has to make a life changing decision, which can come at any stage and in any manner. Decisions are made on a daily basis but most often they are made unconsciously and without ever thinking about the outcome. September 2003, I had to make one of the most crucial decisions of my life even though I knew the answer before deciding the outcome. There was NO choice and, as life would have it, I had to seize the moment, as, in the literal sense, the opportunity and chance would not come around again. This was a trial in every sense: the story of my life. A story that took me and my family to many countries in search of a cure for my condition, Mucopolysaccharidosis (MPS) II Hunter's Syndrome. For 12 years we searched Europe and North America, visited many hospitals and met with many doctors, to the point that I was beginning to feel like a research project for a little known medical condition. Finally, at the age of fourteen, I asked my family to accept my situation, to allow for me to move on with my life. As I felt that there was little that could be done for my condition, which stems from the missing enzyme, iduronate sulphate sulphatase, essential in the breakdown of mucopolysaccharides (heparan and dermatan sulphate) in the body. As a result, these mucopolysaccharides are incompletely broken down and remain stored in cells in the body, causing progressive damage and conditions such as respiratory problems, enlargement of the major organs, restriction and stiffness of the joints, short stature, eventual vision impairment, and a shortened life span. After a lot of discussion, the family agreed with me and saw that I had self-respect and was confident in my own shell. The traveling had come to an end and the medical appointments, though constant, were manageable. I had already taken the self-directed approach to "fit in" and to allow people to perceive me as I would perceive myself. I had to see myself as a hurdler, to clear each obstacle, physical or psychological, and run the course. This was easier to contemplate than complete. Like most, I had my moments but the unbelievable feelings that come with success, like cycling Vancouver Island in the Summer 2002, which was exhausting and difficult, are worth the pain. Physical pain had, and continues to be, part of my daily diet, but it is the emotional pain, and not just my own, that is often more difficult to handle.
Invariably, I have more confidence in my own capabilities than others. Having to respect and consider the apprehension and fear of my family, friends, and supporters is an added burden. But these good intentions have never stopped me from taking and completing the challenge. But it is perception or judgment that needs to be changed and this may be yet my biggest challenge. Challenge I love. I would also like to be able to make a change in people's perception or judgment of the disabled. In August 2003, I accepted the position of Program Analyst with the West Coast Group. This position provided me the opportunity to consult with the Provincial Government to address some of the needs for the disabled and perhaps make change, however slight. At the same time as I accepted this position, I was working towards my Masters degree at the University of Victoria. I was looking forward to taking on the challenges ahead when I heard about a clinical trial, long-term treatment, which had had the potential to prolong my life and stop the progression of the disease. This trial, referred to as the AIM (Assessment of I2S in MPS II) study, is a fully enrolled trial designed to evaluate safety and efficacy of weekly and bi-weekly infusions of I2S for a total of fifty-two weeks. The AIM study is a randomized, double blind, placebo-controlled trial being conducted at nine sites around the world and supported by Transkaryotic Therapies (TKT).
Unfortunately, Canada was not one of the nine sites. This meant that I had to either relocate to a site south of the border or travel to one of the nine sites for weekly infusions. The University of North Carolina Medical Center, in Chapel Hill, North Carolina, is the base site for the trial and the location of the top doctor or guru, as like to call him, Dr. Joesph Muenzer who I had met at the National MPS Conference in 2002. Mesmerized by Dr. Muenzer, his research and knowledge of the disease, I knew I would feel confident if he was present for my assessment and treatment. However, the "real" trial was one that went deeper than medical infusions. I had to face leaving friends, who had become my support system, familiar and comfortable surroundings, that gave me confidence and independence, and abandon my Masters program and my new career that provided acceptance and comfort. This was a trial of leaving the known to enter into an unknown. I could not travel from Victoria to North Carolina each week: I had to move. I moved to Toronto in October 2003. The weekly travel to Chapel Hill, NC is tiresome but the results of the trial have proven worthwhile. I have experienced significant benefits in my respiratory system, my liver has shrunk, and I feel I have more flexibility in my joints. I have lost a little of my independence as I rely on public transport and family. I have made many new friends in Toronto and North Carolina, including a new community of people afflicted with MPS. I miss the challenges of career and university but intend to take up the challenges early next year when the trial and the open label allows for disclosure of weekly infusions: at least until the drug is approved by the United States Food and Drug Administration (FDA). The FDA has recently approved Aldurazyme, a treatment for MPS I after Genzyme Corporation completed successful clinical trials for the drug. Canada has now accepted Aldurazyme, which we hope will prove beneficial in the acceptance of I2S. The weekly cost of I2S is approximated at $2,100. With so very few people afflicted with the disease, getting attention, support and ultimate approval can be difficult. Difficult is common to those afflicted with a rare disease, such as MPS. Just recently a father of a young boy with MPS, in England, was so distraught that he took drastic steps to end his son's pain and now faces criminal charges for what he considered a kind act: euthanasia. MPS is a terrible disease but, like most situations, there is the flip side. I truly believe things happen for a reason and we are put in situations because a higher being (God) believes we can handle them. Prior to attending the National MPS Conference in Fort Worth, Texas April 2002 I had only met one other individual with MPS when I was a youngster at Toronto Sick Kids' Hospital. To find out that there was an actual community and support network for all MPS conditions was an eye opening experience. There are approximately ten patients at each of the nine sites around the world. At the Chapel Hill site, the patients range in age from six to twenty eight. In just 50 weeks the apparent changes in these men and boys are significant, especially the younger ones who have not reached full growth. But many of the changes that are not apparent are equally dramatic. I believe I am receiving the drug (I2S) on alternate weeks, and I see and feel the benefits in my breathing, flexibility, and energy levels, as do all the other patients.
Several of the MPS II participants, at the Chapel Hill site, have achieved and accomplished a lot, some are taking their doctorate and other degrees. I have enjoyed meeting these young men, they have the understanding that reflect problems associated with the disease and the behavior and feelings of others and the issues of relationships, intimacy, and acceptance that often result in social isolation, loneliness and frustration. Being part of the trial also helps keep me informed of the ongoing medical research in Enzyme Replacement Therapy (ERT) and to understand that we have come leaps and bounds since the days when my family brought me around the worlds in search of a cure. At the Canadian National MPS meeting and at Chapel Hill, NC I find that I have given hope to parents and many young men who consider my accomplishments as a good example of what can be achieved and a goal that is within their reach. These adolescents and younger MPS patients have been deprived of aspirations, which they cannot control and cannot understand, but constantly impact them. This has created self-doubt and insecurity and my achievements seem to have reduced some of the despair for these patients and their parents. Often I do not see this same reality. I feel I am not achieving much right now, I have lost a little of my livelihood. I realize that I have a chance of prolonging the life I love and value so much, but I want to get back to the normal and to identify with every day life. When I first found out about the possibility of receiving Enzyme Replacement Therapy (ERT) I was moved beyond belief. I never thought there would be a chance of this happening in my lifetime. It is said that life is full of choices and this may be but in this instant, I had no choice. I had the support of everyone back home in Victoria. They helped me make this difficult decision and assured me that it will still be there whenever I return, that it would be the same as if I never left. Of course, it was still very difficult to leave everything behind but at the same time I had lots to look forward to with improved health and new network of family and friends in both Toronto and North Carolina. Making a big decision such as this is made a lot easier when you have the loving support of family and friends. I already had a network of family and friends in Toronto. I was born in Toronto and lived there for the first twelve years of my life. I was excited to spend more time with my sister as she had been away at Queen's University for four years and was now living and working in Toronto. At the same time I was not ready to relocate to North Carolina. I could not handle my whole life revolving around the weekly infusions. I needed the support and comfort of friends and familiar surroundings during this trial, which would include some very rough patches. At the sixth week, my body reacted severely to the treatment. Blood samples were sent to Boston to test my mass cells. The Christmas holidays delayed the results and the time waiting for these results was unbearable but I found strength in my vulnerability. Fortunately, pre-medications the night before my infusion and hour before my infusion both orally and intravenously, allow me to continue. Over the course of the months since the premeds started there has been no more problems with reactions but the dosage of steroids and antihistamines I take do a number on my body. Dr. Muenzer is slowly weaning me off these premeds as my body gets used to the therapy. As it is a double-blinded trial, I must take these every week despite my thoughts on what I am receiving, this is protocol and no one knows for sure. I am in touch with my body, and an "enzyme" week feels very different to a placebo week with increased muscle pain and exhaustion for the first day or two. Then, the days following, I have improved breathing, flexibility, and energy. There are now only two weeks left in the yearly trial. In November I will be guaranteed to receive the "enzyme" (I2S) every week until the FDA approves the drug. The time intervening will be spent helping to secure Canadian approval for the drug. The Board of the Canadian MPS Society, which has just elected me to their board, will spearhead this approval process and will need the support of politicians, the medical profession, and Canadians at large. I will continue to have the courage to continue the journey of being me and to be sensitive to my actions and their impact. This trial has taught me that this approach is so important and creation is so awesome that I will never feel inadequate and will always strive to help others. |