Mr. Chair, members of the committee, thank you very much for having me speak to you about how we've been directly affected by life with the rare disease cystinosis.
I would also like to personally thank MP Ben Lobb for caring about our ongoing issue since the first day that our medication access became an issue. We wouldn't be here today if he didn't have an interest in our family's battle.
I'm the president and co-founder of the Liv-A-Little Foundation, which was founded in 2013, two years after our daughter was diagnosed with the rare, genetic, metabolic disease cystinosis at the age of one.
Liv-A-Little Foundation is committed to supporting the advancements of treatments and ultimately a cure for cystinosis, by educating, promoting and funding progress. I'm also a board member for the Cystinosis Research Foundation in Irvine, California, where they are currently funding the most progressive research in our cystinosis community. We are proud to partner with them to fund global research, some of which is proudly Canadian.
My most important role, however, is being Olivia Little's mom. Olivia has cystinosis. Since the day she was born, I have taken my role seriously, and even more so when we received the devastating news that she had a life-altering disease with a life expectancy of 27 years young. I committed myself to caring for her and advocating for her until she can one day take that role on herself. When she was first diagnosed, I believed that advocacy meant parenting her with her father, collaborating with her pediatric nephrologist and medical team, and providing her with proper nutrition, a healthy environment and a strong sense of normal, in spite of living with a rare incurable disease.
I had no idea that in addition to all of that, I would have to fight for medication access here in Canada. On July 4, 2011, we nearly lost Olivia due to acute kidney failure. We had already been in and out of the hospital three times a week, tirelessly pursuing answers to her failure to thrive since she was three months old. That day, July 4, we got lucky that the final doctor ordered blood work.
We were told to go to the hospital immediately and be prepared to stay for a few days. We hoped for and expected a quick recovery, but those few days turned into a month-long stay at the Children's Hospital in London. When we left, we did not have the healthy child we expected. Instead, we had a diagnosis with no cure, a grocery bag full of medications that I could barely pronounce, eye drops required hourly, and a heart full of information, sorrow and anxiety.
We learned that cystinosis is a rare, incurable, metabolic disease affecting only 75 to 100 Canadian children and young adults, and approximately 2,000 worldwide. In patients with cystinosis, cells cannot release the amino acid cysteine from their cells. In people without cystinosis, proteins degraded with the lysosomes of cells are transported from the lysosome to the cell's cytoplasm via specific transporters. The cells of those with cystinosis have defective transporters, causing the cysteine to crystallize within the tissue. The crystal buildup eventually destroys all the body's organs, including the kidneys, liver, muscles, white blood cells, eyes and central nervous system.
Without specific treatment, Olivia, like all those with cystinosis, will progress to end-stage renal failure by an average age of nine years old. In the past, this meant childhood death. Now these patients can receive renal dialysis or renal transplantation. However, even with successful renal transplantation, these children go on to develop abnormalities in their organs.
It is with enormous gratitude that we learned about the drug cysteamine, which slowed the progress of cystinosis by removing the cysteine from the cells. Cysteamine is the active ingredient in Cystagon, which was the first treatment of cystinosis and still is one of the only two treatment options today.
However, in order for the drug treatment to be effective, it must be taken every six hours. Although this has led to a much better future for these children, cysteamine is not a cure. When we administer it every six hours, we're always reminded that while the progression is slowed significantly, cystinosis still progresses in Olivia's body.
We adjusted to our new normal and all of its side effects, including interrupted sleep, constant medical preparation, and attention to Olivia's growth and eating along the way. This normal became routine, and our daughter thrived under the regime of electrolytes and Cystagon, which was primarily a life-sustaining medication to slow the unrelenting progress of cystinosis. This routine is hardly normal, but it worked well and she was healthy.
On November 7, 2017, we received a letter that introduced another level of fear to this rare disease situation. It was a letter which stated that here in Canada, Olivia could no longer access her life-sustaining treatment of Cystagon. This letter arrived five months after the new drug Procysbi—claimed to be the same drug as Cystagon but merely administered differently—was approved by Health Canada. The price tag for Procysbi, however, came at a hundred times the cost. When questioned about this extreme discrepancy, the response was that this new drug is a breakthrough drug.
Health Canada provided Procysbi without considering that they were replacing the drug Cystagon that was both physically effective and cost-effective. The company that produced it, Horizon pharmaceuticals, entered the Canadian market with an extremely overpriced drug.
In the U.S., Horizon already raised the price of Procysbi by 9.9% in January 2018, with another anticipated increase in January 2019. Pharmaceutical companies are allowed to increase the price of drugs by 10% per year in the United States, and Horizon is certain to go as close to its margins as possible.
I do support building healthy relationships with pharmaceutical companies and want new drug advancements for children and adults with diseases and illnesses, both rare and common. If a drug can enhance the quality of life for our fellow Canadians, we need to find a way. However, we need to hold companies to high standards of ethics, as well. Health Canada seems to have placed high standards on drug efficacy without considering the integrity of these companies that are benefiting on the backs of vulnerable populations.
To my knowledge, Horizon has one fellow Canadian employed here in our country, which is not contributing meaningfully to our local economy. With a drug at the price of Procysbi, we should expect the company to contribute to our local economy as well as mandate that it conduct research and development to improve life among the rare disease population.
In our capitalist democracy, being a for-profit company is expected and acceptable, but we must have higher expectations for pharmaceutical companies than price gouging patients and, more importantly, our taxpayer dollars. By approving Procysbi without an effective and all-encompassing understanding of the company, its ethics and history, Health Canada made a decision that will have an enormous effect and impact on cystinosis patients and Canadian taxpayers.
This is a policy issue. Policies are made for people, and not the other way around. If a policy is going to remove choice, security and health from Canadian citizens, then it is a policy that should be changed, and errors made by that policy need to be rectified to protect Canadian citizens.
On a more personal and immediate note, if our family made the switch from Cystagon to Procysbi, our original costs of $14,590.80 per year for Cystagon would now be over $300,000 per year for Procysbi, all of which the Province of Ontario covers for patients with cystinosis.
Adding Procysbi to the list of available cystinosis treatments would be a win for everyone, because the case of each is so different. However, Procysbi was not added to a list of treatments. Procysbi replaced our current treatment entirely.
Procysbi is not the same drug, although Horizon would like us to think it is. Its administration and dietary restrictions are only two challenges patients face when they switch.
Cystagon has been an effective medication in our case. While it is administrated every six hours and is taxing on our sleep and overall quality of life, Olivia's health has been unbelievably stable on it. She experiences very few side effects. We are extremely proud of the track record, as creating and maintaining her diet to minimize constant vomiting and headaches is very involved and tricky for us. She has been so stable, in fact, that we haven't had to adjust her Cystagon treatment since August 2015. The medication she takes, along with our constant compliance to the administration, is doing its job. When the time is right for Olivia, Procysbi should be available as an option. Remaining on Cystagon should also be an option.
The bottom line is that the patients with cystinosis and their families should be the ones selecting treatment in collaboration with their nephrologists. No one knows their children better than the parents, and no one knows how the children respond to treatment or the impact of treatment on the family than the parents. They should have primary decision-making ability in the treatment for their child, or in the case of adult patients, for their own treatment.
It seems that our Canadian system eliminates the power of choice for the parents, for which Health Canada says it advocates. Even Canadian doctors and medical specialists, who have been licensed by our government and have given oaths to provide best for their patients, are not given the authority to choose patient treatment for the patients they know so well.
When Procysbi was approved and Cystagon was so abruptly removed from Canada, and our letter of cancellation was issued, our doctor was shocked, because she had not been informed about the approval of Procysbi, and did not necessarily feel it was the best choice for her patients. When our nephrologist spoke with someone from Health Canada, giving verbal medical reasoning for Olivia to remain on her current treatment, she was denied that choice, leaving us terrified about what to do next. We were stunned that someone, however highly educated, sitting in an office, who did not know cystinosis or our child, was able to make a decision overruling our child's physician. As Olivia's primary caregiver and someone who trusts our doctors and medical system, I was disgusted that our physician was not trusted to make the most important decision for her patient.
We, as Olivia's parents, have adjusted every aspect of our lives to take the best care of our daughter, keeping her healthy and out of the hospital, and a broken policy and someone who does not know the first thing about cystinosis was able to make a life-altering decision against our will.
I'm not saying we have the answers. In a perfect world, there'd be no disease. In a perfect world, cystinosis would not exist. Until that time comes, though, let us focus on perfecting what we do have, and correcting policies that put pharmaceutical companies before patients and policies before people.
All lives matter. There has to be a way to correct the mistakes made last year, and if there isn't currently a way, then it's time to pave one.
Again, I would like to thank everyone for inviting me to address the committee. On behalf of our organization and the cystinosis community, we are grateful to see the rare disease community on a potential pathway to better the lives of those with rare disease.
