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.
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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.
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.
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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.
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.
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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.
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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.
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for people affected by mitochondrial disease, a precision medicine approach 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.
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