Shedding light on a little-known disease - Mitochondrial Disease Awareness Week Sept. 20-26
PHOTO COURTESY NAOMI LALIBERTÉ-ROBINSON Naomi Laliberté-Robinson and her family during a recent trip to Alaska. Laliberté-Robinson will be hosting a fundraising event for MitoCanada September 19 at Hudson’s Finnegan’s Market to raise funds and awareness for mitochondrial diseases.
It all started one morning in 2011 when her son, then two-and-a-half years old, didn’t wake up.
“We called 911 and he was transferred to the Montreal Children’s Hospital,” recalled Hudson resident Naomi Laliberté-Robinson.
“There was just a whole bunch of random things happening that we didn’t quite understand and the doctors were kind of perplexed by it,” said Laliberté-Robinson.
A diagnosis took over three years and involved genetic testing. Laliberté-Robinson’s son Ocean, 7, and daughter Azalea, 4 1/2, are affected by a genetic mutation called Mitochondrial Complex III deficiency. “It’s been a long journey,” she said. “It’s pretty crazy when you think about it.”
According to the MitoCanada Foundation, one in 5000 Canadians has mitochondrial disease. There are hundreds of types of mitochondrial disorders and the United Mitochondrial Disease Foundation says the disease is approaching the frequency of childhood cancers. Studies suggest mitochondrial disease may explain Sudden Infant Death Syndrome.
Laliberté-Robinson likens mitochondria to the “batteries” of our cells. “They produce 90 per cent of the body’s energy. It’s used to keep your heart beating, your brain functioning, your lungs breathing, your muscles contracting. It’s also used if you cut yourself and you need some energy to heal that wound.
Problems happen when mitochondria don’t produce enough energy. “With the kids, instead of having 100 per cent energy output, it’s close to about 40 per cent energy output,” Laliberté-Robinson said. “If they go to school and they do a lot of activities outside, they come home and they may not have the energy to hear properly or be able to digest a meal properly.”
Mitochondrial disease affects Ocean and Azalea’s livers and skeletal muscles. They can’t sleep through a 12-hour night without food in their stomachs so before bed “they have to drink a solution that helps them throughout the night to keep the carbohydrates up because the liver hasn’t stored enough during the day to provide the body with extra energy throughout the night,” she said.
The children go through ketotic hypoglycemia. “Their body after 12 hours thinks it’s been fasting for four-to-five days so they go into this survival mode right away,” Laliberté-Robinson said. “They start burning fat. They’re very thin children and that can cause a lot of issues. In the morning they’ll wake up with blood sugars that are so low it’s hard for them to even stay conscious.”
She said because Ocean and Azalea look like, “happy, beautiful children,” it’s hard for people to understand they have a disease. Getting gastroenteritis means hospitalization and strep throat doesn’t go away with antibiotics.
Earlier this year Ocean and Azalea began taking high doses of CoEnzyme Q10. Now Ocean, who couldn’t run for more than a few minutes with his friends without sitting on the ground, massaging his legs, complaining of leg cramps and pain, is enrolled in hockey. “It’s not a cure-all,” she said. “After 45 minutes of hockey he’s exhausted for most of the day and the day after.”
For Laliberté-Robinson and her husband, Simon, their children’s prognosis is unknown. They’re aware that most children diagnosed with mitochondrial disease before the age of 10 don’t survive into adulthood, she said.
“We want them to be children,” Laliberté-Robinson said. “We want them to experience the world, whether it be them having a short time on this Earth or a very, very, long, happy life we want them to experience everything and be happy and not have to worry about what they deal with.”
This Saturday Sept. 19, from 9 a.m. to 3 p.m., Laliberté-Robinson will be holding a fundraiser for MitoCanada, selling fresh produce and canned goods from local farmers at a kiosk at Finnegan’s Market, 775 Main St. in Hudson.