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.
My name is Mary Jane Vowles and I'm one of the volunteer members of the board of aHUS Canada.
My daughter has aHUS, also known as atypical hemolytic uremic syndrome. This ultra-rare, life-threatening disease is a disorder of the immune system that can damage or destroy any organ by creating blood clots that stop the normal flow of blood to the organ.
At six months of age, my daughter developed flu-like symptoms. The pediatrician on call diagnosed her with the flu. The next day, there was blood in her urine. I took her to the family pediatrician, who diagnosed aHUS, and she was admitted to hospital.
Over a week, she received several red blood transfusions, appeared to stabilize and was discharged. Two weeks later, the flu-like symptoms returned. The same pediatrician was on call and claimed the first diagnosis was incorrect and repeated that she had the flu. The next day my own pediatrician sent us to SickKids.
In the next few days, Caryn's kidneys shut down and a nephrologist diagnosed aHUS. They installed a central line, followed immediately with dialysis, and then plasmapheresis. Her blood pressure was out of control. Medicines didn't work. After two weeks, they were able to cease dialysis and weaned her off plasmapheresis, replacing it with treatments of plasma infusion.
After six months, she was discharged, returning weekly and then bi-weekly for infusions of plasma. Many attempts were made to increase the span to three weeks, but each attempt failed and the aHUS recurred, requiring readmission to the hospital and plasmapheresis. She frequently had reactions to the plasma and went into anaphylactic shock many times.
When Caryn was in grade 8, she developed antibodies to that plasma and again was hospitalized for six months. After many unsuccessful attempts with treatments, they finally succeeded, using IVIG prior to plasma. She began peritoneal dialysis.
In grade 11, Caryn began a trial of eculizumab, also known as Soliris, injected every two weeks. It was sponsored by Alexion. Life was good.
At 18, she was transferred to the adult patient world, with a nephrologist from Credit Valley Hospital. She continued to receive the eculizumab treatments through SickKids.
In Caryn's second year of university, she fell, rupturing the tendons in both of her knees. In emergency, she received dialysis in hallways, despite protests.
She had successful surgery at Credit Valley Hospital. After a few weeks, she developed pains in her stomach while here in Ottawa and was diagnosed with aspergillus. She was airlifted back to her nephrologist at Credit Valley Hospital.
In the meantime, her father had been convinced to have the cost of the eculizumab covered by his health insurance plan. This had been done for several treatments. The insurance company would not cover the cost when she was admitted to hospital, and Credit Valley Hospital refused to cover it. At $750,000 a year, the family budget could not afford it. The nephrologist at Credit Valley knew nothing about aHUS and the hematologist there refused to see her or look at her case.
The experts in that adult field were at Toronto General and Saint Mike's. Both hospitals refused to admit her because of the cost of the drug. After a battle, the chief of staff at Credit Valley facilitated a transfer to TGH under the condition that they would not treat her with eculizumab. Instead they would use a detergentized blood to minimize reactions and prevent recurrence.
She was in hospital for five months, had many allergic reactions, and some were severe.
In January 2014, the aHUS recurred. She was put back on eculizumab under her father's plan. In May 2014, she no longer had insurance. Alexion, the drug company, agreed to continue the eculizumab on compassionate grounds. It continues to do so.
Caryn had to go on to hemodialysis. She's often in extreme pain as a result of the dialysis and has debilitating headaches.
Caryn is now 25. She has a degree in biomedical engineering from the University of Guelph, where she will shortly complete her master's degree in applied science. She has been accepted with a scholarship to complete a Ph.D. in biomedical engineering at Queen's.
Caryn's success story is only possible because of eculizumab.
Recently there have been other success stories in young patients treated with eculizumab as soon as diagnosed and they've been able to recover completely and resume absolutely normal lives. One 12-year-old was admitted to SickKids' coronary unit, vomiting and enduring internal bleeding. He suffered a blood clot and was put on oxygen. He received blood transfusions and plasmapheresis. His kidneys failed, requiring dialysis. Once diagnosed and treated with Soliris, his health improved. His kidneys recovered completely.
The onset can be very different for patients, and the age of diagnosis can vary. One patient was misdiagnosed with another ailment, lost kidney function, and then had a transplant and seemed to be doing well. Soon he became ill and also lost the kidney. Further testing showed he had aHUS. He has had multiple relapses, is on dialysis now, and has been approved under the Ontario government new format to receive the drug. The administrative team at the hospital are delaying. There's no guarantee the government will fund the drug continually following the transplant. A recurrence would lead to kidney loss and perhaps death.
In March 2013, after its extensive testing process for safety, quality, production and efficacy, Health Canada approved eculizumab. The Province of Quebec began to fund the drug immediately. Other provinces awaited the CDR report from the Canadian Agency for Drugs and Technologies in Health. Five months later, the CDR recommended provinces not fund the drug due to its high cost and lack of evidence of efficacy, criticizing the lack of using a placebo on a control group. This was purposely not done, because aHUS can be lethal. aHUS Canada questions why a drug that science supports, that is very safe and effective, was not recommended for these treatments.
Under the leadership of the deputy minister of Ontario public drug programs, meetings were held with aHUS Canada to create possible solutions. Headway has been made in some areas and patients are receiving the drug for transplants. Though most provinces now fund the drug, the issue is that patients are now being removed from the drug arbitrarily without scientific support or doctors' recommendations.
There needs to be a separate program that evaluates health technologies for rare diseases, as they so differ from common disorders. The CADTH should have a rare disease review in addition to its common drug review and the pan-Canadian oncology drug review. Just as PCODR was created due to unique needs, so should RDR. Without this change, rare disease therapies will be evaluated against the same criteria as common diseases, and this is unfair. The same robust statistics will never be available in rare illnesses because of the low number of patients, and that also will increase the cost of the therapy. A different viewpoint is needed.
Four problems face patients. The first is the difficulty of a quick and accurate diagnosis of the illness. We live in a vast country where not all patients can reach a major city for that diagnosis and treatment. The second is timely access to a drug for a disease that can permanently damage organs and cause death within days. Third, as long as specialists do not have decision-making capability for the dosing of eculizumab, patients remain at risk of recurrence. Finally, the cost of the drug needs to be addressed.
A world expert doctor from SickKids has offered a solution that seems plausible for the treatment of aHUS. He made the suggestion for Ontario, but I believe it should be considered as a Canadian option. We need a centre or hub here in Canada where blood can be tested for illness promptly and results returned to the physician. The centre would have at least three expert doctors in the field who are involved in current studies and research. Tests for the illness could be done promptly and effectively. Upon confirmation of a diagnosis, these experts would make medical treatment decisions, instead of provincial governments. This could prevent strokes, heart disease and kidney failure and reduce costs for hospital stays, dialysis, patient home support and disability payments.
Through this centre, patients' response and well-being could be monitored and drug treatments could be decreased in dosage or frequency as deemed beneficial. This model would follow one that is working in England.
Last, if Canada, as a country, negotiated the drug cost, prices could be further reduced. Other drugs are currently being developed, and research is promising, but at this point the only drug known to treat aHUS and change the lifetime prognosis of patients is eculizumab. It's time for Canada to recognize those with rare diseases and find solutions that are appropriate for 2018. We need a country-wide plan so we do not discriminate against the minority who have a rare disease.
Research has come a long way in 25 years. When Caryn was diagnosed, the statistics were that there were 100 patients in the civilized world with atypical HUS and over half of those had died. Recent research suggests that aHUS affects about 200 patients in Canada. It is possible to change the outcome for patients with aHUS.
I trust I have successfully addressed the barriers that patients with aHUS face, suggested recommendations, and stressed the need for action. Eculizumab must be made available to aHUS patients through public funds.
I thank you very much for listening to us today.
I've been a single mom since Caryn was three. I had to keep my job; it wasn't a choice. Caryn is one of three children.
All those months she spent in hospital, I was there with her every night. I left work. I drove to SickKids. I would get up in the morning at six o'clock and head back to work. I did that for months on end.
That affected my boys. I found out more about that this weekend than ever before. They talked about the take-home meals they used to endure. We were referring to Little Caesars. They had buckets of pasta. I haven't had buckets of pasta in years, since she's been on this. But they remember that. They remember the Toonie Tuesday, because that's what they got on Tuesdays. I love cooking, but I wasn't able to do that when my boys were young.
I know this illness gave me a lot of strength that I didn't know I had. Part of the illness over Caryn's years was that there was no clear-cut treatment, no clear-cut answer. There were points when there were things happening where....
For instance, there was one apheresis machine in Toronto, and it got wheeled from Toronto General to SickKids in the underground tunnel. It could do two treatments a day. They decided after they'd started Caryn on it, and she was six months.... Maybe it was the first one they'd ever done this way. It was very scary, although I didn't know enough to be afraid. They wheeled it back. They did it for five days in a row. Then they decided that another patient needed it, and she wasn't going to get the machine. I was going to have to talk to the media and show my blue-eyed, blonde-haired little girl. In the end, the machine came back to Caryn. I have no idea what happened to the other patients who were supposed to be on it.
Through that, we, together.... When I say we, the doctors and I worked together on a plan that was agreeable to both of us in stretching out the treatments on the apheresis machine and trying whatever together. Together, we created research through this illness.
I don't mean to sound smug or smart ass, but I was the one who linked the nephrologist at SickKids to Dr. Kaplan at the Children's Hospital of Philadelphia at the time, so they could find out more about the research. All there was about Caryn's illness back when she was six months old was one chapter in a textbook, which they gave me to read. It was way over my head, but I learned to understand it. We've come a long way since then.
Certainly, lots of treatments are working, and the doctors know a whole lot more than they did when progressing through her illness. When she was diagnosed back in the day—I remember we could go on the Internet—there was one other case, and it was of another blue-eyed, blonde-haired little girl, but she did not survive the illness, the aHUS, the way Caryn did. Most kids, as much as they survived, were left vegetables. We've moved beyond that.
This is where it comes down to the bureaucracy of business and Health Canada. It was basically because the new drug was approved. SAP is there for special access when there are no drugs currently available in the country to take.
Procysbi was approved in July 2017, and we went to get our next dose filled in November. That's when we got our letter of cancellation, strictly based on rules around drugs coming into the country and having exclusivity, because they went through the process. That is the reason they wanted to switch us to Procysbi.
The other thing with Procysbi is that the ingredients of the drug are the same as Cystagon. It's the same drug. The only difference between Cystagon, which Olivia is currently on at $15,000 a year, versus Procysbi, is that it's enteric coated. They enteric coat it so that you only have to take it every 12 hours versus every six hours.
I know when you have children, the dream is to sleep. I gave that up when I had kids to begin with, but at the end of the day, they call it a breakthrough drug even though the ingredients are the same. This drug would not even be on the market if it weren't for families like ours and others across Canada and the U.S. who were fundraising to make this drug. We funded this drug to happen to begin with, which is a real kick if you're somebody like us who just wants the best for your child.
This drug, although it has the same ingredients, is slowly released over 12 hours, so you only have to take it twice a day versus six times a day. But in the fine print that nobody else reads is the fact that, with this drug, I have to limit my eight-year-old, who already has a hard enough time eating food, because the medication, the same ingredient, makes her nauseous. On top of that, we have to limit her food intake for eight hours in a day, an eight-year-old. I bet most of you couldn't sit around this table and limit eight hours of your waking time...to schedule your life around taking just one medication.... Olivia is on six other pills that have to be taken, too, which we also have to stagger.
She's on sodium bicarbonate. You can't take sodium bicarbonate with any kind of slow release because the bicarbonate would dissolve that drug immediately in her stomach and she would get a double dose, because with this new breakthrough drug, Procysbi.... I lost my train of thought.
A regulatory framework exists. We can't compel sponsors to come in and apply for market authorization. We can certainly encourage them. We can explain the process, facilitate, and provide incentives. However, ultimately it's a company's decision whether they market a product in Canada.
You probably heard over the last few testimonies that it is sometimes challenging to get products into market. We try to facilitate the conditions that would bring these products, through providing the framework for clinical trials, which supports clinical trials on rare diseases, and a process for priority reviews and notice of compliance with conditions, which I think we spoke about when we were here the last time, that incentivizes companies to come to market.
Once they're approved by Health Canada to be on the market, it's for other players within the system to decide on price and whether the provinces decide to ultimately fund it. It's beyond our role in that process. Maybe Karen can speak a bit about it.
As we talked about last time we were here, the special access program is one that is unique. It provides, on a probation basis, based on a request from a physician, access to an unapproved therapy that has not gone through the regular scrutiny for evidence around its quality, safety and efficacy. It's for the physician to explain why this therapy is the best choice for the particular patient in front of them, why it's a serious and life-threatening condition, why other available therapies, if they exist, have been considered and are not suitable, and evidence that supports its use.
Because special access requests are authorized in those kinds of conditions, they're not authorized for long periods of time. Typically, it's three to six months.
There can be a unique situation where a product receives an authorization, but it takes a company, once they get their approval, several months to get their labelling together and then actually put the product on the market. There's a period after a product gets market authorization where it's still not available, so the special access program will continue to provide access under that.
We shorten the time period because we know ultimately the product will be on the market. If there's an alternative product at the same time being accessed, we would shorten that as well, because we anticipate that most practitioners would transition to an approved therapy once it's available on the market.
Access to clinical trials is often when we're doing investigational testing because there are certain requirements on the sponsor to have a well-designed protocol, that the risks are mitigated to the degree possible, that patients are informed and that you have REB approval. In the development of drugs, we encourage access to be through a well-designed clinical trial.
Having said that, there are challenges when patients with rare diseases may be distributed randomly or very widely in small numbers across the country. We work with sponsors to encourage access to those individual patients or specific patients. Failing that, there are other options, like open label trials or compassionate access programs, where individual patients, under the design of a protocol, can get access to a drug that may not actually be in the larger trial that's ongoing.
When trials finish, then there's also a concern about ongoing access. Again, there are opportunities, if the sponsor is prepared to continue to provide access, so that patients that are responding to the product can continue to get access through an open label extension or compassionate access. We encourage that until such time as it's market authorized.
Under the right to try, right to try can mean different things. It can also mean that a patient who wants access to investigational therapy where there may be varied or no evidence around its efficacy wants access to that drug. When we did the SAP renewal, the thinking around the special access program, we did a consultation back in December of last year and January this year. It was one of the questions we asked. There were health professionals, health care system workers, patient support groups and associations. By and large, there was very little support for the right to try.
Some of the reasons we heard were typically about, when you're talking about right to try you're talking about a serious or life-threatening condition, and almost unanimously, you require a health practitioner to be involved in that care. The special access program allows that to happen. A health practitioner can evaluate an individual patient, look at the products available, look at what evidence there may be, credible or not, to support the use and come forward with an application. It's also something in jurisdictions elsewhere that there's not a lot of support for. In fact, most manufacturers have commented that they don't want their investigational products necessarily being accessed in that way. They would rather that it be in its early development or a properly designed trial, where you can control for variables, and the evidence is usable to move forward with the support of market authorization.
Cathy, do you have any other—