Losing my sons to a muscle disease

When Nelly Achieng got married, about 20 years ago, she couldn’t wait to be a mother. And when she held her first baby in her arms, she was sure that she was holding all her life’s dreams in the bundle. “He was a strong healthy boy. We couldn’t have been happier. But at age six, things changed,” she says. 

The boy developed severe muscle pulls, and began walking on toes instead of using the length of his feet. He also couldn’t walk upright.

The worried mother rushed her son to the nearest hospital; the Jaramogi Oginga Odinga Teaching and Referral Hospital (JOOTRH). It was there that he was diagnosed with Duchenne Muscular Dystrophy (DMD).

According to Dr Josephine Ojigo, a paediatrician at the hospital, DMD is a muscle-wasting disorder caused by defective genes. In the Inheritance pattern, sons have a 50-50 chance of inheriting the disorder from their mother if she carries the gene on one of her X chromosomes.

“I was told by the paediatrician that the condition had no cure and eventually my son would die. It was heartbreaking news,” says Achieng.

As she struggled to come in terms with the news, it occurred to Achieng that the condition could have been what had cost her family her two brothers. They hadn’t considered the possibility of an underlying condition; a scenario that Dr Ojijo says is all too common.

“The condition is rare and never detected easily unless genetic screening is done among women.

It manifests in boys at a young age. In many cases, those affected die after three or four years due to respiratory failure; it is a rare condition in Kenya,” says Dr Ojigo.

Achieng gave birth to a second son when the firstborn was eight-years-old. He too developed the same condition at the age of five. He started experiencing a lot of pain in the joints.

All children sick

“On seeking medical opinion, medics diagnosed him with the same condition. I couldn’t even take them to school because I could not afford the fees in a special school,” says Achieng.

Achieng would conceive again, and this time, medics warned her that there was a possibility that this child would suffer the same fate as the older two children. Sadly, it happened again.

“At the age of six, he also began experiencing the same symptoms. And my hopes were dashed again when he was diagnosed with the same condition and the doctors reaffirmed that indeed there was no cure,” says Achieng.

She lost her first son in 2009 at age of 19, the second in 2014 at the age of 17 and the third in 2017 at the age of 16. 

“As soon as they showed symptoms, their health began taking a downward spiral and it didn’t take long before they died,” she says.

Achieng had another son; her fourth. Phillip Otieno is now a 16-year-old teenager. During the interview at their home, he raises his hand to wave at me, but it falls with a dull thud on his laps. When he tries to smile, his lips remain frozen in an uncomfortable frown.

He sits in a corner of the house on a blue plastic chair. He cannot move, his muscles are wasting away.

Otieno needs a wheelchair that costs Sh30,000 and three weekly physiotherapy sessions that go for Sh1,000 per session, but Achieng cannot afford it. 

She has another son, her last-born, Whyne Ochieng. He is nine, and already walks with a limp and falls when he tries to run. His legs have grown weak and he complains of backache.

“The disease, which affects boys, weakens muscles at around age four and quickly worsens,” explains Dr Ojigo.

“Signs usually appear before age five, and may even be observed from the moment a boy takes his first steps. The muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in having trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content.”

Although there is no known cure, physical therapy, braces and corrective surgery may help with some symptoms.

“Assisted ventilation may be required in those with weakness of breathing muscles. Medication used helps to slow muscle degeneration. Also, gene therapy has given some children improved muscle strength, but long-term effects are unknown as of 2020,” says Dr Ojigo.

Genetic counselling is advised for people with a family history of the disorder. DMD can be detected with about 95 per cent accuracy by genetic tests performed during pregnancy.

George Omama, a physiotherapist at JOORTH, says diagnosis of DMD is often delayed, especially in Kenya. “The condition cannot be detected in mothers but it prevails in their sons whose health starts deteriorating at a young age. We offer counselling and the physical exercises we do target the muscles.  The progression of DMD varies from one patient to another, depending on one’s immunity among other environmental factors. Sometimes the disease will still continue progressing head-fast until death,” says Omamo.

DMD, however, does not affect a child’s intellectual ability, though they will generally be physically slower and tire easily.

“They will often require a wheelchair in order to move around, otherwise they become bedridden,” says Omamo. 

Achieng howeve, remains hopeful that something may change; maybe a cure or just a miracle. She holds onto that lifeline as she professes longer life, as only a mother can, to her two surviving children.