Trey crawling. December 2004.
After speaking with Kirsten Harkin’s, the ED of the Canadian MPS Society, she drafted this letter to the Vancouver Sun:
Re: Health Care’s successes, like little Trey, pose the challenges, Feb. 7th
That Trey Purcell’s access to life-saving enzyme replacement therapy should be categorized as anyone’s “nightmare” is a testament to a pervasive lack of sensitivity toward Canadians with rare disorders and the lack of understanding of the issues relating to their emerging treatments. Trey, by no fault of his own, was born with an enzyme deficiency which – untreated – would result in progressive damage to his organ systems: he would lose his hearing, his respiratory system and cardiac system would become severely compromised, his height would be stunted, he would suffer from facial dysmorphia, his joints would stiffen, his hands would claw, and he would suffer from severe orthopaedic abnormalities. All this, with the possibility of neural degeneration to go along with it. Imagine, if you can, the utter devastation Deb and Ryan Purcell experienced when Trey was diagnosed last spring with MPS II, commonly known as Hunter Syndrome.
For decades, there was no hope for families like the Purcells – their only option was to watch their children’s health progressively deteriorate toward an early death. Now, thanks to the tireless efforts of researchers and the willingness of biotechnology companies to invest in treatments for rare disorders (due, in large part, to the US’s Orphan Drug Act of 1983), new innovative treatments are coming down the pipeline creating a shot at a normal life for kids like Trey and a vision of a bright future for parents like Deb and Ryan. Are these treatments expensive? Of course they are…when there are only a few thousand patients world-wide with a particular disorder, it’s common sense that manufacturers must charge more per patient to recoup their R&D costs and turn a profit (it’s also common sense that if manufacturers couldn’t receive a return for investment for treatments for rare disorders, they wouldn’t produce them at all). Is it more difficult to establish effectiveness – long-term patient benefits – within a rare disease population (the efficacy and safety of Elaprase have been established by the FDA and the EMEA)? Yes, again because of the small numbers of affected patients and the heterogeneity of those patients. The important piece to remember here, though, is that there are no alternative treatments available for kids like Trey. Although we may not know the long-term outcomes on treatment, we do know what the outcomes will be without it.
Wouldn’t it be lovely if we could just celebrate the fact that we can save Trey and others like him? How must it feel to the Purcells to know that fellow Canadians – who surely value the life of a child above all else – ponder whether Trey’s life is “worth” saving…if it was the “right decision” to save him from the suffering he was destined for without this new treatment? Was the “benefit worth the cost,” or would it have been more efficient to spend the money on some new MRI machines? I applaud those in the BC Health Ministry who recognize that it is indeed the right thing to do to provide treatments to save the lives of children like Trey. Yes, our healthcare budget is strained, but the money spent on treating a handful of rare disease patients can surely be offset by creating efficiencies – the possibilities are endless. The question should not be whether we should provide access to treatments for rare disorders, but how. A Canadian Orphan Drug Policy can and should be implemented – integrating international best practices – to support Canadian research and industry, simplify and speed up regulatory filing systems, and ensure patient access so that we can join the US and the EU countries as a nation that honours and values its rare disorder community as equals.
Trey didn’t choose which disease he was diagnosed with – If he had been diagnosed with cancer, would we be having this debate? Kirsten Harkins Executive Director, The Canadian MPS Society Board Member, The Canadian Organization for Rare Disorders North Vancouver Kirsten Harkins is the Executive Director of The Canadian MPS Society and the mother of an eleven-year-old son who has been successfully receiving enzyme replacement therapy to treat MPS I since August 2003. The Canadian MPS Society supports families affected by MPS, promotes public and professional awareness, and raises funds for research. www.mpssociety.ca.
That Trey Purcell’s access to life-saving enzyme replacement therapy should be categorized as anyone’s “nightmare” is a testament to a pervasive lack of sensitivity toward Canadians with rare disorders and the lack of understanding of the issues relating to their emerging treatments. Trey, by no fault of his own, was born with an enzyme deficiency which – untreated – would result in progressive damage to his organ systems: he would lose his hearing, his respiratory system and cardiac system would become severely compromised, his height would be stunted, he would suffer from facial dysmorphia, his joints would stiffen, his hands would claw, and he would suffer from severe orthopaedic abnormalities. All this, with the possibility of neural degeneration to go along with it. Imagine, if you can, the utter devastation Deb and Ryan Purcell experienced when Trey was diagnosed last spring with MPS II, commonly known as Hunter Syndrome.
For decades, there was no hope for families like the Purcells – their only option was to watch their children’s health progressively deteriorate toward an early death. Now, thanks to the tireless efforts of researchers and the willingness of biotechnology companies to invest in treatments for rare disorders (due, in large part, to the US’s Orphan Drug Act of 1983), new innovative treatments are coming down the pipeline creating a shot at a normal life for kids like Trey and a vision of a bright future for parents like Deb and Ryan. Are these treatments expensive? Of course they are…when there are only a few thousand patients world-wide with a particular disorder, it’s common sense that manufacturers must charge more per patient to recoup their R&D costs and turn a profit (it’s also common sense that if manufacturers couldn’t receive a return for investment for treatments for rare disorders, they wouldn’t produce them at all). Is it more difficult to establish effectiveness – long-term patient benefits – within a rare disease population (the efficacy and safety of Elaprase have been established by the FDA and the EMEA)? Yes, again because of the small numbers of affected patients and the heterogeneity of those patients. The important piece to remember here, though, is that there are no alternative treatments available for kids like Trey. Although we may not know the long-term outcomes on treatment, we do know what the outcomes will be without it.
Wouldn’t it be lovely if we could just celebrate the fact that we can save Trey and others like him? How must it feel to the Purcells to know that fellow Canadians – who surely value the life of a child above all else – ponder whether Trey’s life is “worth” saving…if it was the “right decision” to save him from the suffering he was destined for without this new treatment? Was the “benefit worth the cost,” or would it have been more efficient to spend the money on some new MRI machines? I applaud those in the BC Health Ministry who recognize that it is indeed the right thing to do to provide treatments to save the lives of children like Trey. Yes, our healthcare budget is strained, but the money spent on treating a handful of rare disease patients can surely be offset by creating efficiencies – the possibilities are endless. The question should not be whether we should provide access to treatments for rare disorders, but how. A Canadian Orphan Drug Policy can and should be implemented – integrating international best practices – to support Canadian research and industry, simplify and speed up regulatory filing systems, and ensure patient access so that we can join the US and the EU countries as a nation that honours and values its rare disorder community as equals.
Trey didn’t choose which disease he was diagnosed with – If he had been diagnosed with cancer, would we be having this debate? Kirsten Harkins Executive Director, The Canadian MPS Society Board Member, The Canadian Organization for Rare Disorders North Vancouver Kirsten Harkins is the Executive Director of The Canadian MPS Society and the mother of an eleven-year-old son who has been successfully receiving enzyme replacement therapy to treat MPS I since August 2003. The Canadian MPS Society supports families affected by MPS, promotes public and professional awareness, and raises funds for research. www.mpssociety.ca.