rare disease day: lack of strategy is hurting patients

evan’s daycare teacher noticed a change in his behaviour and so did his father, blaine penny. the usual exuberant little boy seemed out of sorts at school, and oddly lethargic during an outing to a dinosaur museum.that same week, he developed intense abdominal pain that prompted his parents to take him to a calgary children’s hospital. a physician who evaluated evan believed that his appendix had ruptured, and went ahead with an appendectomy, a routine operation that’s considered low-risk.evan slipped into a coma after surgery, and days later when he finally woke up, further evaluation led to a diagnosis of acute disseminated encephalomyelitis, a neurological disease that is similar in its presentation of symptoms to multiple sclerosis. the prognosis was good — doctors told penny that 90 per cent of children can recover from it.optimistic that evan, who, after surgery was non-verbal and unable to walk, would also recover, penny and his wife sarah poured their energy into rehab and speech therapy for evan. but instead of improving, new frightening symptoms emerged — hundreds of seizures a day.“the doctors were perplexed,” says penny. “they had a doctor from every discipline looking at evan, trying to understand what was going on.”they suspected that there was something genetic that was underlying, but because evan’s health was so unstable at that point, any additional or invasive testing that required anesthesia could further destabilize evan’s health.it took months before his condition improved and more than a year to uncover why a healthy four-year-old boy was left unable to speak or move his body after surgery.a muscle biopsy eventually confirmed the diagnosis of probable mitochondrial disease,  a rare genetic disorder that occurs when mitochondria — the cells that are responsible for processing oxygen and converting foods into energy — fail to produce sufficient energy, robbing the body of its ability to function properly. the disease can be present at birth, but it can also strike at any age, and it usually occurs when the body undergoes extreme stress.“evan may have been at a stage where the disease was starting to progress, but clearly, either the anesthetic or surgery pushed it over the edge into an acute episode,” says penny.it is estimated that more than 10,000 canadians suffer from mitochondrial disease, according to mitocanada’s website, and millions more suffer from other diseases in which mitochondrial dysfunction is present, including diabetes, heart disease, kidney and liver disease, alzheimer’s, parkinson’s, cancer and autism.according to dr. samantha marin, a pediatric neurologist at health sciences centre in winnipeg, there is often a significant delay in the time from the patient seeks medical care to the time of diagnosis. she says that the delay can be blamed on the lack of awareness of mitochondrial disorders among healthcare providers who don’t specialize in this area, and the lack of standardized testing that can help diagnose the disease.a recent study revealed that the diagnostic journey for most people with mitochondrial disease usually involves multiple invasive tests, consultations with at least eight clinicians, as well as an initial misdiagnosis of another condition.“with better access to genetics, i think it will improve, but we still find a lot of our patients waiting months, if not years, before getting a diagnosis,” explains marin.there is no cure for mitochondrial disease, but patients are usually treated with a cocktail of vitamins and nutrients, including coenzyme q10 (coq10), alpha-lipoic acid (ala), and creatine monohydrate (cm). exercise has also shown to be beneficial.marin says in the last few years, promising new treatments are emerging, such as vatiquinone, a new agent that may help reduce the frequency of seizures and seizure-related deaths in mitochondrial disease patients with epilepsy. she adds that scientists have also been able to successfully target and eliminate damaged mitochondria cells so that healthy cells can take its place using gene therapy. another clinical trial has shown that it may be possible to improve vision for mitochondrial disease patients whose sight has deteriorated.compared to treatments available in the u.s. and europe, “only 60 per cent of treatments for rare disorders make it into canada and most get approved up to six years later,” according to the canadian organization for rare disorders’ (cord) website.treatments are expensive and range from $100,000 to more than $2 million per patient, per year and for most people, it’s often for the rest of their lives, according to a report by the government of canada. the same report suggests that more than half of all high-cost drugs in canada cost more than $200,000 per patient, per year.but the costs don’t end there. equipment, such as a wheelchair and lifts, everyday supplies, hiring a personal support worker and an overnight nurse can be some of the additional expenses that families affected by a rare disease face.over the years, evan’s diagnosis has prevented penny and his wife from working full-time — the lost income, coupled with significant out-of-pocket expenses, like respite care, have had a financial impact on the family. penny says that while the majority of what is required to care for evan is covered, the family needed to make “a quarter of a million dollar upgrade” from their previous home to help accommodate evan being in a wheelchair.the canadian organization for rare disorders’ website estimates that one in 12 canadians lives with a rare disorder. about three million people across the country are impacted by about 7,000 rare diseases, according to a report.to help address the current challenges and gaps in the care and support of people affected by rare disorders, cord has developed a national strategy and is calling on all levels of government to help support its key goals: improving early detection and prevention, ensuring timely and equitable care, enhancing community support and access to treatment and promoting innovative research.dr. durhane wong-rieger, cord’s president, says that while progress is being made in all key areas, from early detection and diagnostics to access to treatment, community support and research, it is fragmented across the country.“the challenge is that we don’t have a framework that integrates all of the pillars, nor do we have a national plan that would make sure that all of these are working together and that they are all equally available to people,” she says.wong-rieger says that many other countries with a national rare disease strategy have investments in research and drug discovery. in canada, research is taking place in universities and hospitals, but even if a drug is discovered or it reaches a certain promising stage, it’s sold to a company in the u.s. or europe to bring that drug to clinical trial.“we need to set up canada in such a way that is an attractive environment for clinical trials, but that has not necessarily happened in the way it should or could happen,” she says.for people affected by mitochondrial disease, a precision medicineapproach will likely direct the future of therapy. this includes identifying the precise genetic cause for the disease, and creating models to help determine the path of the disease and its impact to the body. from there, therapies can be tested and a precise treatment can be matched to each patient’s metabolism and their disease.penny says that when evan was diagnosed in 2008, there was nowhere to turn to for support in canada. it took him and his wife sarah years to learn about the care, funding and support that was available to families affected by mitochondrial disease. it was through meeting others who were “going through something similar but were further down the path” that helped penny and his wife navigate those early years.the first ten years were the toughest.“this is the first christmas that i can remember where i wasn’t deeply sad,” says penny. “at times like that, you realize how much evan has missed out on. you never get over the loss — as time goes by, you just learn how to cope with it better.”the abdominal pain that landed evan in the hospital and on the operating table in 2008 remains a mystery — something that’s all too common for many people with rare diseases who often endure many painful tests, unnecessary surgeries and misdiagnoses before uncovering the real reason behind their illness. and some never do.it’s been quite the journey,” says penny. “evan is the strongest person i have ever met and he has battled through so much. every day is a gift to have him with us.”rare disease day is february 28. to find out more about rare diseases, find support and help raise awareness, contact the canadian organization for rare disorders.