Annette Sebey isn’t asking for the moon, just her life. In a tearful plea at a press conference Monday afternoon, Sebey asked the New Brunswick government why they were able to decide whether she lives or dies.
Sebey, 46, is a mother of two and suffers from late-onset Pompe. Pompe is a rare genetic mutation which prevents the body from producing one of the enzymes needed to convert glycogen into sugar. Glycogen is the stored form of the energy people get from eating and is normally stored in the liver and muscles until it is needed.
“Five years ago I could shop on my own. I could climb stairs although slowly. I could get out of low chairs. I did not use a cane” said Sebey.
Because her body is no longer able to convert glycogen stores into usable energy, Sebey can no longer attend her children’s activities or be easily involved in what used to be a rich, active family and social life.
The only treatment available for Pompe, which affects about one in every 40 thousand people, is an expensive enzyme replacement therapy called Myozyme.
According to Durhane Wong-Rieger, the president of the Canadian Association for Rare Disorders, in the world of drugs for rare diseases, it’s not the most expensive one out there.
“Despite the fact that individually these drugs are very expensive, the numbers are very small. In Canada, the amount of money we pay for drugs for rare diseases is 0.7 per cent of the public health spending” said Wong-Rieger.
She did not have an exact figure for the cost of the drug, but said drugs for rare diseases generally cost between 100 thousand and 600 thousand dollars per person per year.
In New Brunswick, Myozyme is not covered for adults because it did not pass the review process of the Canadian Expert Drug Advisory Committee. The drug is covered for people diagnosed with infantile-onset Pompe disease.
In a statement, Minister Hugh Fleming said “there was insufficient evidence to evaluate Myozyme’s effectiveness and safety in late-onset Pompe disease, therefore it was not recommended for coverage for this form of the disease. The manufacturer may make a re-submission with new information and Myozyme’s benefit status can be re-considered.”
Sebey said requiring the manufacturer to resubmit the drug with evidence proving efficacy in adults is akin to a death sentence.
“Certainly rare diseases can present unspeakable hardships for the families affected by them and our hearts go out to anyone in this situation. While prescription drugs can be beneficial, their use must be evidence-based” said Fleming.
In March of this year, a study of 283 adult Pompe patients showed enzyme replacement therapy has a positive impact on reducing mortality.
Sebey and Wong-Rieger said the Canadian Drug Review process does not work for drugs for rare diseases because the clinical trials are done with small patient groups, usually over short periods of time because of the severity of the illnesses.
“We understand the challenges of public drug plans to provide coverage for all its patients. Luckily most provinces have found ways of treating patients with rare diseases, and by using individualized treatment plans, the healthcare system can be sure that the patients who stay on therapy are those who are benefiting” said Wong-Rieger.
Brad Crittenden is from British Columbia and also lives with late-onset Pompe.
“I hated buying groceries. I would only have the energy to go to one store. I couldn’t go to a store unless they had shopping carts. I couldn’t carry the groceries, but mostly it was because it helped me walk. I really couldn’t walk without pushing the grocery cart around. The worst part of it was when I got home and I tried to carry the groceries into my home” said Crittenden.
Three and a half years ago, Crittenden talked to his respirologist about how much longer it would be before he would need to be vented. Venting is when a hole is cut in the throat and a tube inserted which connects the lungs with a ventilator. Once a person has been vented, they are confined to a wheelchair because they need to keep the equipment with them in order to breathe.
Crittenden was told he would need to be vented within two years. At that point, he was already at a quarter lung capacity when lying down and half capacity when sitting.
Then he started receiving Myozyme.
“The biggest thing that it did was it stopped the progression of the disease” said Crittenden.
Crittenden has been receiving bi-weekly infusions since May 2010. Since he started the treatment, his lung capacity has doubled.
“They [his family doctor] would always try to get me to do squats. Well you can imagine when you can’t breathe you can’t really do squats. Now when I go in to the office my doctor does the squats with me. We do maybe 30 or 40 squats” said Crittenden.
Crittenden has been able to start playing some of the sports he was forced to drop, and has not had to be vented. He continues to walk without a wheelchair or a walker.
“Personally, I find it quite offensive that a patient who’s sick has to sit here and beg for an approved treatment that will save her life. … When there’s other people all over the world, especially in Canada that are getting it” said Crittenden.
New Brunswick will continue to work with other provinces and territories to develop an evaluation process for drugs for rare diseases said Fleming.
In other provinces, Myozyme is approved for use in late-onset Pompe patients.
“I can only assume that the Minister and the Alward government has decided to measure the value of my life in dollars and cents” said Sebey.
She wants the New Brunswick government to develop an individualized plan for her case and allow her to receive Myozyme. If she does not benefit from the drug, she says they should stop coverage.
In the meantime, Sebey is enrolled in the second phase of a clinical trial for another enzyme replacement therapy being tested in the United States. The company making the drug flies her from her home in Perth-Andover to Florida and then drives her five hours to the trial site every two weeks for her infusion.
“The drug company is paying for everything, but they’re not replacing the time away from my family” said Sebey.
She also said any benefits she may be receiving from the clinical trial are likely negated by the exhaustion of travelling so far so frequently.