When Muscular Dystrophy Is Personal — And Global

Facioscapulohumeral muscular dystrophy (FSHD)

By Fred Thys
Guest Contributor

Every once in a while, I’m grateful I live in such a medically-minded town, with many deep thinkers trying to figure out treatments and cures for some very tough diseases.

I felt this way over the summer, at a conference in Boston on Facioscapulohumeral Muscular Dystrophy, a genetic disorder that affects 1 in 8,333 people and has no treatment. I did not attend the meeting due to some theoretical interest in the topic; for me, it’s personal.

My mother and grandmother suffered from the condition, and so does my brother. It causes gradual loss of muscle function, notably in the face, and in the muscles that mobilize the shoulder blades and the upper arm, but also in the legs.

My brother first developed symptoms when he was 15, and found that he could no longer run as fast as his high school soccer teammates. Since the age of 43, he has been confined to a wheelchair or scooter, unable to walk or stand.

But at the conference in August, I also realized that this illness with such a profound impact on my family, also has a global reach. Indeed, in regions like Africa, the condition is only just beginning to be acknowledged.

Enter: Chris Chege

I first saw Chege sitting on a tall stool at the back of the room with his wife. Their presence proved that the condition affects Africans, too, something that isn’t widely acknowledged. Chege and his wife had traveled to Boston from their home in Thika, in central Kenya, 30 miles Northeast of Nairobi.

An interview with Chege pointed to one possible reason that conference room was full, mainly, of white people: most people with the condition in Africa may not have been diagnosed with it yet.

But Chege said he sees others with FSHD in Kenya. He said he can tell.”By the way they walk,” he said. “I see them on national television when journalists go to their homes to interview them.”

The television journalists, Chege says, report that the families he sees on television with the symptoms of FSHD are bewitched.

“The way they walk I can tell that’s muscular dystrophy,” he said.

His own condition was a mystery to him for nearly twenty years.

When he was a teenager, he first realized that he could not keep up with other people. “Back home, my father was a farmer,” Chege said. “We used to pick coffee berries from our farm. Once we pick the coffee berries, we have to take them to a processing machine, and you take what you pick.”

Chege would have to carry 45 lbs of coffee berries at a time. One day, he found that he was unable to carry so many berries. “I used to receive a lot of beatings from my father and my mother because they thought I was just lazy,” he said.

Chege decided on his own to see a doctor, who gave him medication that produced “a lot” of side effects on him, he said.

There are no medications approved anywhere for the treatment of FSHD.

It was not until the year 2000, at the age of 34, that he was diagnosed with muscular dystrophy.

“Life is very harsh having a muscular dystrophy condition, because in my town, it’s very hilly, so walking around is quite difficult, and if I have to walk around, I have to have somebody to help me, and you see, almost everybody is busy,” he said.

So most of the time, Chege said, he sits at home.

“It’s actually very, very harsh in Africa,” he said.

Chege and his wife have two boys, 16 and 10. “The way they behave during their daily activities, she senses they may be affected also,” he said

Chege found out about the FSH Society’s biannual conferences that bring together patients, their families, and researchers.

Peter Jones was one of the researchers at the conference who met with Chege. Jones is conducting research at the University of Massachusetts Medical School. The genetic sequence that causes FSHD, known as 4q35 D4Z4, is present in healthy people as well as people affected by the disorder. In healthy people, the sequence is suppressed. For some reason, in people affected by FSHD, the suppression mechanism doesn’t work. Jones is trying to figure out why.

“I decided to come to this conference in Boston to meet other patients who have the same condition and also to learn more about this condition and also to meet the scientists, the doctors and to gather more information so that I can be able to educate others back home,” Chege said.