Sam takes a bite out of life thanks to the MCH

Suffering from mitochondrial myopathy, 12-year-old Sam Dumesnil was finding it increasingly difficult to eat and was slowly making his way towards tube feeding. Innovative surgery at the Montreal Children's Hospital (MCH) enabled him to eat normally again.

Mitochondrial myopathy is a rare degenerative disease affecting muscle cells. These cells don't receive the energy they need, resulting in fatigability that can lead to muscle loss and weakness.

As a result of this condition, Sam’s cricopharyngeal muscle (located above the esophagus) was closing up, preventing food from passing through and causing an accumulation of saliva.

"At night, he would choke on his secretions and food would pass less and less… And eating is one of his pleasures in life," explains Dr. Sam Daniel, chief of surgery at the MCH.

A second opinion

Gradually, Sam had to adapt the texture of his meals and cut his food into very small pieces so that he could eat.

At the time, the child was a patient at another health facility.

"Sam is being followed by several specialists. They didn't recommend surgery because it was a very temporary solution, with more constraints than benefits for my boy, in addition to being usually performed in the elderly. Tube feeding was the option considered," says his mother, Isabelle Langlois.

However, Sam is also a patient in Gastroenterology at the MCH, for another reason. After a routine appointment where the feeding problem is raised, the family is advised to meet Dr. Daniel at the hospital's Dysphagia clinic. This will change the course of Sam’s story.

Dr. Daniel is able to perform endoscopic laser surgery, i.e., passing a fiberoptic tube through the body without having to open the throat or the neck. With a laser, he was able to cut the problematic muscle. This is a highly specialized, minimally invasive procedure, not performed anywhere else in children in Canada.

The youngest child benefiting from this innovation, an eight-month-old baby, was operated by Dr. Daniel in 2017. Since then, he has helped more than 30 children rediscover the pleasure of eating. 

"We were happy to hear about this procedure. We were stressed, because there are still risks, but when you're told that in a few months your child won't be able to swallow anything, you're ready to try extraordinary measures," says Isabelle.

The surgery turned out to be a remarkable success. Recovery was even faster than expected. Within six weeks, Sam was eating normally again, no longer choking and breathing well at night. His life has regained all its flavor!

The importance of addressing rare diseases

Rare diseases are individually rare, but collectively they affect around three million people in Canada and 500,000 in Quebec. Like mitochondrial myopathy, they are often progressive, most often affect children, have limited or no treatment options, and require complex medical and personal care. It is therefore essential to better understand rare diseases and develop new therapies, and mitochondrial myopathy is no exception.

The McGill University Health Centre, recently recognized as a Centre de référence interdisciplinaire pour les soins et la recherche en maladies rares, is proud of the variety and high quality of the expertise it brings together in this field, whether in diagnosis, care or basic and clinical research. It is also grateful to the public, private and philanthropic organizations that make these activities possible, for the benefit of sick children and adults.