Thank you very much.
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.