Mucopolysaccharidosis Type II
3/30/2009 08:39| More
Because many rare diseases are genetic, a huge number of those afflicted with them are children, many very young. As a result, many of the stories about rare diseases one hears are about children and their parents and the tremendous challenges they often face to acquire treatment.
Last April, I came across the story of Szymon Cajmer, an eleven-year-old Canadian boy living with Hunter syndrome, a progressive degenerative disease that while rare could be treated with an enzyme replacement therapy called Elaprase. Unfortunately for Szymon, one year of Elaprase costs $400,000, and while the treatment was funded in other provinces, in was not funded in Ontario where he lived.
In September 2008, the provincial government agreed to fund Szymon’s treatment, but only after a months-long community campaign sparked by Szymon’s mother’s appeals to the government and the media. Even Canadian NBA star Steve Nash (who has a childhood friend with Hunter syndrome) got involved.
I wish that the story of Szymon Cajmer were as rare as Hunter syndrome, but it’s not. Many treatments for rare diseases come with extraordinary price tags, and governments are not always willing to cover the costs. Consequently, all around the world parents of children with rare diseases are having to become lobbyists, launch publicity campaigns and recruit celebrities in order to save their children.
I am the father of two daughters. Neither has a rare disease, yet parenting remains hard work, full of challenges to face and obstacles to overcome. What, then, if one of my children was afflicted with a rare disease or condition that undermined their health and their happiness? How would I confront the often exorbitant costs of paying for treatment – if, in fact, a treatment even existed? What would I have to do, and for how long would I have to do it, in order to take care of my child?
My wish for the rare disease community is a paradigm shift in how governments view rare diseases. People with rare diseases are human beings and citizens, with the right to be supported and sustained. They are not exceptional cases to be set aside and ignored.