They are being treated for Pompe disease, a rare, inherited, and often fatal neuromuscular disorder that causes progressive muscle weakness and loss of muscle tissue. It affects infants, children, and adults. Jean-Louis and Morphet are two of only 45 diagnosed cases of Pompe in Canada and the only ones in Thunder Bay.
As is the case for many individuals with rare diseases, the road to diagnosis was a long one, because many of Pompe’s symptoms are similar to those of other diseases.
“I’ve had problems breathing since 2006, especially lying on my back,” says Morphet. “After a couple of hours, I would wake up with a headache and, whenever I was breathing on my back, it felt like someone was sitting on my chest.”
Last year Morphet’s physician ordered a CT scan. “When I laid down for the CT scan, I turned purple. They rushed me to the Emergency Department. I went into shock and woke up in the ICU.”
Dr. Marios Roussos, an Intensivist with the Department of Critical Care Medicine (ICU) at TBRHSC, investigated further and eventually Morphet was referred to Dr. Mark Tarnopolsky, a Neurologist, at McMaster University/Hamilton Health Sciences in November 2013. Within one week, Morphet was diagnosed with Pompe disease.
Pompe is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). The role of this enzyme is to break down glycogen, a stored form of sugar used for energy. In those with Pompe, mutations in the GAA gene reduce or completely eliminate this essential enzyme, leading to muscle weakness that can make it difficult to walk, breathe, and even eat.
Enzyme Replacement Therapy (ERT) works by replacing the missing or deficient GAA enzyme in order to reduce the symptoms associated with Pompe. Dr. Saleem Malik and TBRHSC Pharmacy manager Deb Emery worked together to allow Morphet to receive ERT here.
After learning of Morphet’s diagnosis, his sister’s respirologist sent her to Hamilton to be tested for Pompe. She was diagnosed with Pompe in April 2014.
Pompe is one of a small group of rare diseases with effective treatment. As with most treatments for rare diseases, it is expensive. Jean-Louis says she and her brother are thankful they live in a province that covers the treatment costs.
In addition to ERT treatment for the rest of their lives, both Morphet and Jean-Louis must sleep with a BiPAP (bi-level airway pressure) ventilator and are encouraged to exercise and have physiotherapy.
Earlier this year, Jean-Louis and Morphet attended the Canadian Association of Pompe’s annual meeting in New Brunswick.
“It was unbelievable, talking to other people who have Pompe,” says Morphet. “I made friends there. I call them my Pompe family.”
