Musa's Family Story

When I imagined the future of our little family, I pictured scraped knees, football games, graduations, and first dates. A life defined by a medical diagnosis was never part of it.

My name is Sabiha, and my husband is Imran. We live in Toronto, Canada, and we have two boys: Isa, who is 10 years old, and Musa, who is about to turn 6. Musa has been diagnosed with Pelizaeus-Merzbacher-like disease (PMLD), which came as a shock to us.

I had a normal and easy pregnancy with Musa, just as I did with Isa. There were no complications. We didn’t do any type of screening before Musa’s birth because the possibility of him having a genetic disease didn’t even enter our minds. There had never been any indication of an inheritable genetic condition in our family, and when Musa was born, he seemed completely normal.

We were so happy. Our little family was growing. Life was good. It was my mother who first noticed something wrong with Musa’s eyes when he was 5 or 6 months old. We took him to an ophthalmologist at SickKids Hospital, and he diagnosed nystagmus. He explained that this could be a symptom of a lack of myelin in the brain. He also said that the nystagmus could resolve itself, as myelin continues to develop in a baby’s brain until around age three. He recommended an MRI and a consultation with genetics if the nystagmus persisted, just to rule out anything genetic. We went home with a sense of relief. Musa was developing fine.

At three, Musa was still not walking and was saying only a few words, so we made an appointment for him to have an MRI. When the results came back, we learned that there was myelin in his brain, but not enough for his age, and we were referred to genetics. I had to Google everything. There was a long wait to get an appointment, and I started to feel depressed. COVID was rampant, too.

I knew in my heart that something was wrong—we just didn’t know what. When we finally saw the genetics team, they recommended we wait until his next MRI. In the meantime, we started therapies: physical, occupational, and speech therapy. He was making progress, little by little.

His second MRI showed that his myelin was not developing, and we proceeded with genetic testing. At first, nothing came up, but with more in-depth testing, we discovered a mutation in the GJC2 gene, which meant he had PMLD. The disease is ultra-rare, there is no known cure, and it is progressive, which means Musa will eventually lose most of the skills he has fought so hard to acquire.

At first, all I could do was cry. I didn’t even know things like this existed. No one in the family had ever had a disease like this. Imran was worried but did not show it.

Eventually, we accepted the reality of this horrible disease and began looking for help for Musa. Isa doesn’t ask many questions, although he knows something is wrong with his brother. It is hard to give him enough attention when his brother needs so much care. It is hard for all of us.

Musa goes to a special school where he receives all of his therapies, and he seems to like it. He has learned a lot and will stay there for another year. After that, he will start first grade, and we will have to decide whether he stays at the same place or attends a regular school.

When I think about the future, I tell myself that we must stay healthy, as there is no one else to care for Musa. I need to stay hopeful. I need to believe there will be a cure.