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A long list of referrals, dealing with stigma or lack of information, being faced with an unexpected diagnosis – these are common steps for a patient finding out they have a rare disease.
It's often a tough, life-altering journey, but for former National Hockey League (NHL) player Cody Hodgson it also became an opportunity to share his experience and inspire others to create something positive out of a challenging situation.
Being diagnosed with malignant hyperthermia (MH) meant a 180-degree turn in his life and in his decade-long career as a professional hockey player. He had to retire at age 26 because of the disease.
"It was very difficult, for sure," he says. "Playing was a big part of my life."
MH is a rare and potentially fatal genetic disease. It manifests as a severe reaction with symptoms that include muscle rigidity, high fever, and a fast heart rate. It's estimated one in 1,000 people may carry the genetic predisposition to develop the disease.
At the beginning, it took Cody some time to adjust to this new reality and he preferred not to speak publicly about his condition.
"I never really liked doing media and, in that moment, I needed time for myself, my family and to be dedicated to my treatment," he says.
After connecting with other patients and their families and after meeting members from the RYR-1 Foundation – an American nonprofit that supports research and advocates for patients with MH – Cody decided he could turn his experience into an opportunity to help raise awareness and funds for this cause.
"It actually helped my recovery when I started working with the foundation," he says. "In sharing my experience, I started feeling more confident that I could do some good by participating in initiatives to educate patients, physicians and healthcare providers about MH, as well as help raise funds for research for new treatments."
Cody soon realized the impact that he could have as a hockey star. He started participating in events, doing media interviews and went all the way to being featured in a documentary about his journey with MH.
For this Rare Disease Day, celebrated every year on the last day of February, Cody says he hopes his story can help other patients and their loved ones.
"Hockey draws this passion that allows you to reach people," he says. "If I can help even one person out there to be aware about their genetic predisposition to develop MH and symptoms they have to keep an eye for, it will all be worth it."
Coming back to Toronto
While playing for the Nashville Predators in 2015, Cody started having some episodes when he felt out of breath, his muscles got stiff, irregular heartbeat and he even experienced some blackouts – a temporary loss of his vision and senses.
He saw his sports physician, got checked by different specialists in different clinics, and months later discovered he had malignant hyperthermia (MH).
"It was, of course, a frustrating process, and I know it wasn't the doctors' fault, it was just a difficult condition to diagnose," Cody says.
Most MH patients are diagnosed after presenting a severe reaction to medications used during general anesthesia for surgery, where their body's temperature goes up and their muscles can become rigid. Doctors then have to act fast to save the patient.
Cody's case was unusual because he has a family history for MH, but the disease was not triggered by anesthesia in the operating room. It manifested gradually after repetitive intensive exercising.
He got the diagnosis confirmed at Toronto General Hospital's
Malignant Hyperthermia Investigation Unit (MHIU) – a world reference in treating and investigating the disease.
"In a way, I was happy to find out that I'd be coming back home to see some of the best specialists in MH in the world," says Cody, who was born in Toronto in 1990.
According to Dr. Sheila Riazi, anesthesiologist and Director of the MHIU, Cody's story is an important reminder to patients who carry a genetic predisposition for MH, as well as for healthcare professionals.
"MH is a genetic condition, so it is important that people who have a family history are aware that the disease can manifest at any time, and not necessarily in the OR," she says.
Dr. Riazi points out that patients and healthcare professionals should consider high body temperatures, muscle pain, general weakness and body rigidity as potential warning signals for the disease.
The importance of research for rare diseases
Sometime ago, cases like Cody's where the patient becomes symptomatic after intense exercising or exposure to high temperatures were rare. Now, they account for about a third of the cases in the unit, explains Dr. Riazi.
She says initiatives to promote awareness are very important, since the disease can progress rapidly and be fatal.
As with other rare diseases, research has been of immense value to improve outcomes for MH patients, explains Dr. Riazi. When MH was first recognized as a complication of anesthesia, the mortality rate was as high as 80 percent. Nowadays, that has dropped to less than 15 percent given the advancements in research and treatment options.
One promising line of study that the MHIU is investigating, for example, is the aerobic pathways in patients with MH to assess what level of exercise is safe for them and even it can be beneficial in managing the disease.
Dr. Riazi says these achievements would not have been possible if it weren't for the patients, who are over all very engaged in contributing with research projects.
"We are so grateful to our patients," she says. "We have 100 percent recruitment for every study we do at the unit.
"Patients even proactively come to us asking if they can participate in research projects. And I understand, because it's a rare disease.
"There aren't many patients or many centres around the world conducting studies, and these patients are looking for answers."
More on Cody's story and MH
More information about the MHIU can be found on the clinic's
website. Resources for patients and families are also available at the
RYR-1 Foundation's website.
Watch an extended trailer for the documentary featuring Cody's story.