The disease that wastes away boys’ muscles

Fifteen years ago, Scholar Muthamia was getting ready to welcome her second child. The pregnancy had no complications at all and when her son Ferdinand Mutugi Njuguna was born, he weighed a healthy 3.9 kg.

Mutugi was as precocious a toddler as can be, and all was fine in the Njuguna household until the boy developed a peculiar walking style.

“He would push his left foot ahead while walking and he didn’t seem to quite stand up straight,” Muthamia says.

“We thought it was a unique walking style he had developed, and let him be. And weirdly, when wearing a pair of shorts or trousers, he would pull them up with his arms while walking and many assumed we were buying him over-sized clothes,” she says.

Later, Ferdinand began falling while walking. He also started having a hard time standing up from a sitting position. Climbing stairs became a hardship and he couldn’t run as fast as he used to.

“He would get tired very fast and even started walking on his toes. We took him to various hospitals and eventually ended up at Kenyatta National Hospital where he was diagnosed with Duchenne muscular dystrophy,” she says.  

Duchenne muscular dystrophy (DMD), they were told, is a genetic disorder characterised by progressive muscle degeneration and weakness due to changes in a protein called dystrophin that helps keep muscle cells intact.

“We had never heard of such a disease. It was new to us. I was very devastated by the doctor’s pronouncement and we all needed counseling as it was a long-term condition with no cure,” Muthamia says.

And thus began the long journey of seeking answers and therapies.

Not ones to lose hope, the determined parents began taking Ferdinand for physiotherapy, hopeful that they would salvage the situation. In her free time, Muthamia would comb the internet seeking more information about the disease that was ravaging her son.  

“All I found was doom. There were no positive news about the condition, and we had a really difficult time processing all the information we were getting,” she says.

When Ferdinand was 10, the disease got more intense. He couldn’t walk on his own and would support himself on walls and nearby items in order to move. Eventually, he had to be confined to a wheelchair.

Getting the wheelchair for Mutugi was a particularly difficult decision for Muthamia. And before she got it, she had bought crutches instead. “I was in denial. I didn’t want my son in a wheelchair and I bought him crutches instead but he would fall on them and they became dangerous. It hurt me deeply to see my once playful and healthy son deteriorating right in front of me.

“And the worst part was making him understand his condition and the changes he was experiencing. The struggles did not stop there, as teachers and people around him also did not understand his condition,” Muthamia says.

Today, Ferdinand at 15 is a calm teenager who excels in academics. He is on medication that slows down the rate of his muscles’ deterioration. “We found a hospital in India that manages all the neuromuscular disorders like DMD,” she says.

Every year since 2013, Ferdinand has been going to India twice a year for Stem Cell Therapy. Muthamia says the treatment helps boost the vitality of his muscle cells. “The stem cells are injected into the affected areas and this prevents the condition from getting worse by delaying the progression of the disease. If we hadn’t been going for the stem cell treatment in India, maybe my son’s situation could have worsened.”

To manage the condition, Ferdinand has to do occupational therapy and physiotherapy to ensure the muscles don’t contract.

“We have videos we use as a guide and I also taught my husband what needs to be done so that they can do it together to ensure he does the right thing. The exercises are done daily,” she explains and adds that staying positive and having a supportive network is what has kept them going as a family.

“Prayers help too. I once met a 52-year-old man with DMD who has a family and that gives me hope that my son will live a long life too.”

The struggles with her son inspired her to start the Duchene Muscular Dystrophy Foundation Kenya. “Through our forum, we help educate parents on how to deal with the condition and assist where we can because very few insurance companies cover such conditions,” she says.

As Ferdinand grows into a young man, his mother faithfully hopes for a brighter future. “To parents with sons like mine, I ask that you don’t lose hope. Acceptance takes time. I cried for three years until I realised that the only way to help my son is to give him the care he deserves.”