HERO’S EXIST EVERYWHERE WITHIN RARE DISEASE, CHILDREN, PARENTS, FRIENDS, FAMILIES, RESEARCHERS – WHAT AN INCREDIBLE COMMUNITY WE HAVE! READ ON ~
Many, many people know Nadine, be it on Twitter, Tumblr, or Facebook (and, for a few very lucky people, in real life). Her spunkiness, wit, and love for sci-fi shows (combined with some interesting insights) make of her a caring, fun, and deep person to talk to.
It came as no surprise to find out about her involvment in a project to raise awareness and funds for a little known disease. Hunter Syndrome is, in very short, a genetic disease in which long chains of sugar molecules can’t be broken down correctly because of a missing enzyme; and so, the sugar molecules build up in the body’s tissues, causing complications such as airway obstruction, carpal tunnel syndrome, hearing loss that increases over time, joint stiffness and decreasing mental functions. People who have the early-onset (severe) form of Hunter syndrome usually live for 10 to 20 years, while those with the late-onset (mild) form usually live 20 to 60 years.
Nadine is helping her friend Deb organise a fundraising gala. “Once Upon a Cure, a Gala for Hunter Syndrome Research”, slated for 24 September 2011 at the Sutton Place Hotel in Vancouver, which will give invitees an opportunity to hobnob with a variety of actors and celebrities from Vancouver. The evening will include a cocktail hour, a sit-down plated dinner, a silent and live auction, speeches, a chocoholic dessert buffet (a specialty of the Sutton Place), as well as live music and entertainment throughout the evening.
While Nadine is playing an important part in the organization and marketing of the gala, Deb is its driving force. Her son, Trey, was diagnosed at the age of two with Hunter Syndrome; since then, Deb has been actively engaged in finding a cure.
I recently had the opportunity to talk with Deb and let me tell you, it was something quite special. Just to give you an idea: I have talked to a lot of pretty amazing people in my life, and yet within moments, Deb shot up the list of most inspiring people met to date. Our conversation reminded me another one I recently had concerning heroes.
In short, heroes are typically portrayed in movies as a chosen one to whom is given a special power or object to perform a task that they alone can perform, a task that will save the world. While on the surface, it can seem that stories centered on such heroes can be quite inspiring, the contrary seems truer: these stories are disempowering, as no one individual can hope to change the world alone and inaided
This begs for a redefinition of the concept of “hero,” all the more that the world today is in desperate need of saving. My feeling is that there is no such thing as one hero, but that the entity of “hero” is in fact the sum of the efforts of individuals such as Deb, who have the courage, conviction and drive to take one step forward in making the world a better place for everyone, even those affected by a rare genetic disease.
One thing that makes Deb a hero is that while her main drive is her son Trey, she hasn’t lost sight of the lack of justice for all patients suffering from rare diseases. Her passion for justice in the medical field has translated into her adopting the cause creating an Orphan Drug Policy for Canada. While Canada does has a great medical system, the fact is that it still needs work to become better; one aspect is that it is the only developed country in the world that doesn’t have an orphan drug policy, and consequently, doesn’t fund research into rare diseases. That there are only 35 people in Canada diagnosed with Hunter Syndrome therefore translates into a lack of research, despite the talented pool of medical researchers available in the True North.
So who is this hero? Deb’s humility when presenting herself is touching: “I am a mom who is fighting for her kid’s life. When I found out no one in Canada was researching a cure for Hunter Syndrome, and my little guy has Hunter Syndrome, I couldn’t sleep knowing that his disease was progressing and no one in our country was doing anything about that. So I got on it.”
Deb’s involvement with raising awareness and funding for research for a cure for Hunter Syndrome began on Valentine’s Day 2006. Little two-year old Trey was suffering from various symptoms and had already had two peadeatrics visits; but Deb’s mothering instincts kicked in and, in her own words, she didn’t quite jive with the physicians, partly because they were keen on pushing antibiotics and steroids on Trey, without knowing what was causing all the symptoms he was suffering from. And so, she decided to give this third pediatrician a try, a doctor whom she had heard about and had decided to give a chance.
It turned out to be a match made in heaven. Dr. Thiessen turned out to be what the family needed (so much so that he is still, to date, the family’s pediatrician). He told Deb and her husband that he thought Trey had a ‘storage disease’; from there, Trey was referred to various specialists for test and by May 2006, Trey was officially diagnosed with Hunter Syndrome.
I couldn’t help but wonder at Deb’s drive, determination and optimism, and asked her how and why she choose the path she is currently on. While still contemplating the road that led her to where she is today, Deb chalks a lot of it up to her upbringing: “As a teen, my dad was one of few people who respected youth. He modeled anti-ageism and that felt good. In university, I took women’s studies and began to learn more about sexism, racism, classism and all the other ‘isms’. A few years later, Trey was born and then diagnosed; now I’m doing fighting for my kid’s life, funding research and advocating for rare diseases. I have come to the conclusion that I must be an activist at heart. I don’t know what else I could have done. My kid has a rare and progressive disease. No one else in Canada is funding research and Canada doesn’t even have an Orphan Drug policy to help us out. Maybe if the disease wasn’t progressive I could sit back a bit, but I watch the disease in Trey progress; I can’t sit by and do nothing.”
This reflects another thing about Deb I find absolutely fascinating, i.e. the healthy mixture between optimism and realism in her oulook on life. As the mother of a child who has the syndrome, Deb wants a cure; not being a doctor or a scientist herself, she does the next best thing by supporting those doing the work of finding a cure, that is, raising money for research into this disease. In particular, she is hoping that someone big will take on the cause and talk about it in a place that has a large-scale distribution and reach – think People magazine or Oprah. At the same time, she has started a conversation about justice in the medical research field, so that her successes are not only limited to the 35 people who have Hunter Syndrome in Canada, but also to anyone who has a little known, rare disease.
While she has achieved a lot, Deb also realises and admits to the terrifying effects of the syndrome on Trey’s health; she even admits at having moments of deep despair (some of which she has written on her blog, hosted on Trey’s site). After all, she is a mother, and can’t ignore the effect the syndrome has had on the seven year old’s entire body, especially now that his cognitive development is becoming more obviously different.
Hope is a delicate, beautiful thing that needs to be nurtured and taken care of; Deb sums it up in a simple, lovely way. She thinks of Simon Ibell, a man in his mid-thirties living with the syndrome who was told six times that he had less than a year to live, and tells me: “All I know is that I could not live with myself knowing that nobody was doing anything for my son.”
How can you help? If you are on the North American West Coast, you can attend the gala, and/or help advertise it in the hopes of filling up the room and raising enough funds for another couple of years of research into Hunter Syndrome. If you are anywhere in Canada, you can learn more about the Orphan Drug Policy, contact your member of Parliament and ask for the policy to be adopted in this country.
Wherever you are in the world, you could also do a fundraiser of your own. It doesn’t need to be a full-on gala; you could decide to raise awareness about little known diseases and the need to broaden medical research to include them and not only those that bring in the money for pharmaceutical companies.
If you do decide to raise funds for research into Hunter Syndrome, you could get in touch with Deb, who is a fountain of information and experience. But most importantly, the best thing you can do is to get involved in a cause of your choice. Make of Deb an inspiration for you to make a change as well, so that every single cause that has at ts heart injustice can be addressed. Then hopefully we can rest easy knowing that every individual in the world is being treated with justice. What priviledge can compare with being involved in such a process?