Condition that affects boys only turned couple’s life upside down

Alex Muiruri will never forget the moment he held his son, Kamau Muiruri, for the first time. Then a minute later, a another son, Muiruri Muiruri. His wife had just delivered, not one, but two boys.

It was something to be celebrated, but in the roller-coaster of emotions that follow such moments, he was equally anxious.

“I remember feeling overwhelmed, all at the same time, but oh, so in love,” he relives that moment on June 19, 2003. He says a part of him could not believe that these two angelic boys were his to love for the rest of his life, while another part felt as if he had known them his entire life.

But something else happened that day. He noticed that the twins had hypospadias, a congenital disorder of the urethra, where the urinary opening is not at the usual location—the head of the penis—but on the underside.

SURGERY

Naturally, he and his wife were alarmed. But the doctor who delivered the boys advised that they wait for about two years before taking the boys for corrective surgery, and they heeded his advice.

Then, on the twins’ second birthday, the Muiruris, eager to have the defect corrected, took Kamau for the corrective surgery. At Kenyatta National Hospital (KNH) where the procedure was to be done, the doctors assured them it was a minor operation that would take no more than a few minutes.

But after what they considered a few minutes passed, then half an hour, and then an hour, with no word from the doctors and their son nowhere in sight as they waited in the corridor, they got worried.

“My wife and I were beginning to get anxious,” recalls Muiruri. Then their anxiety turned to despair. ‘Why is it taking so long?’” he had asked his wife subconsciously, before heading for the theatre, with her close behind.

"You’re Muiruri’s parents?" one of the doctors met them at the entrance of the theatre. “Actually, we have been looking for you.”

Then, after an uneasy silence as he moved them to one side of the corridor, he continued in a low tone: “After we wheeled your son to the theatre and had him anaesthetised, we returned from scrubbing to start the operation, only to find that he was no more.”

SHOCK

“The world stopped. I felt numb. Then I felt dizzy and didn’t hear the rest of what the doctor was saying,” recalls Muiruri.

“What? How? We were shocked. We had walked into the hospital with a healthy child. We had played with him outside the theatre just before he went in, and now he was no more? Was this a bad joke?” Muiruri recounts the mental turmoil moments after receiving the news.

A friend tried to convince them to sue the hospital.

“But we didn’t have the money to hire a lawyer,” he says. And now, in retrospect, sighs, “Thank God we didn’t.”

“There was a reason it happened. Only that we got to know it much later,” he continues.

Fast-forward two-and-a-half years: By that time the second twin, Muiruri Muiruri, was about four-and-half- years, and his parents noticed that his walking was getting laboured.

“Then after a while, we’d often find scars on his knees. We also noticed that he fell frequently when walking,” says Muiruri. “Before we knew it, he’d gone from a few unstable steps to full-time wobbly walking.”

A visit to a number hospitals in search of a conclusive answer and months of questions led them back to KNH in 2010. It was here that tests established that Kamau had Duchenne Muscular Dystrophy (DMD), a condition they had never heard of.

DMD is a rare disease that weakens the muscles and eventually wastes them, making them less flexible over time. It affects boys only, but its carriers are females who have been found to have a normal dystrophin gene in one X chromosome, and an abnormal dystrophin gene on the other X chromosome, Muiruri Jr’s parents were to learn.

NO CURE

But it was the way the doctor broke the news that stunned them.

“In a few years he is likely to end up in a wheelchair. The disease does not have a cure…and in the long run the patients do not make it,” he recalls the doctor telling them.

“Before we could even wrap our heads around the unusual name, we were confronted with the sad news that we were going to lose our second son,” he says.

Anyway, the doctor sent them on their way with advice to “google” more about the condition. And Google they did.

“When I started reading up on it, I couldn’t stop. And the more I learnt, the more terrifying it sounded, and the more scared I got. It became apparent to me that just as the doctor had said, things weren’t good,” he says.

True to the doctor’s word, at the age of eight, and after they had watched helplessly as Muiruri’ s muscles deteriorated, he could no longer stand unassisted.

“One afternoon he was helping his mum undo her hair, and when he was done and tried to stand, he just couldn’t. From that day he could not go to the toilet or get back on his feet without support. When he tried to stand up, he would topple over. We had to get a wheelchair for him,” says Muiruri.

PHYSIOTHERAPY

“A lot changed,” he adds, a distant look on his face. “He could no longer take the bus to school. Eventually, he had to get physiotherapy in an attempt to improve his life.”
A number of doctors they saw advised that the boy be started on steroids.

“Some doctors warned against their use because of the associated side-effects like weakening of bones, fractures and weight gain. Out of desperation, we tried the steroids and for the two months he took them, he added about four to five kilogrammes. He became edgy and aggressive, so we discontinued that,” he recalls.

Besides, he had got in touch with Parent Project Muscular Dystrophy (PPMD), a DMD advocacy group for parents in the US, and learnt that most opted not to give their children steroids. But he also he learnt of a milder steroid, Diflazacorte. However, it was not available in Nairobi.

And so they turned to South Africa for supplies to help Muiruri’s body regenerate stem cells. Every month he spent not less than Sh30,000 on medicine. This drained him financially.

“I own a small branding outfit and that kind of money was hard to come by monthly. It got to a point where we started incurring debts all over. I checked with some insurance companies but they told me they could not cover my son’s pre-existing condition,” he recalls.

Desperate to improve his son’s life, Muiruri visited a tele-herbalist in Westlands, who said it would cost a tidy sum to treat the boy son, but that he would be walking again in six months.

But instead of improving, eventually his son’s muscles got so weak that he could not pick up a spoon to eat. The boy was 10. He still went to school but couldn’t write. So in the evenings he’d study with his father.

“I would read out the questions and he would answer them and while wrote down the answers. He was a brilliant chap, my boy,” he says.

“That is when I stopped going to the herbalist. But what pained me is how many people out there take advantage of sick people to make huge profits without caring,” he notes.

Meanwhile, a doctor on the PPMD forum had advised that his wife undergo a DNA test to establish whether it was just this one egg that had the chromosomal defect, in which case it might have been a genetic accident, or whether all her eggs might be faulty, before they could try to conceive again. If all her eggs were faulty, he advised that they not have any boys. Unfortunately, the test was extremely expensive, so they could not afford it.

In yet another surprise event, even before they had the opportunity to absorb this new, scientific piece of advice, the unexpected happened. The Muiruris learnt they were expecting again.

This, even though they had been pondering over the prospect of not attempting to have any more children – at least not until the matter had been cleared.

ON TENTERHOOKS

“If ever there was a time when we were on tenterhooks, it had to be 2010,” he recalls, “We prayed so hard that the baby was not a boy.”

Luckily, a scan showed it was a girl; she would be named Wambui Muiruri.

Meanwhile, things had got so bad with his boy that in 2014, Muiruri had to see a doctor for depression.

Then, early in the evening on August 28, 2015, his wife called him and told him they had rushed Muiruri Jr to Mbagathi hospital. Apparently his heart was beating abnormally fast. Tests could not find anything was wrong. But they were referred to KNH.

“We sat in the queue waiting, with my son telling us to turn him this way and then that way, and the other way. I went to the doctors’ stations countless times to ask if they could see my son because he was badly off but they kept saying, ‘see all those people?..they’re all waiting to be seen, so you wait.’ My second twin boy passed away in the queue waiting for the doctor to see us,” he recounts emotionally.

Then out of the blue, as if to stress how much it affected him, adds, “He was my best friend.”

"So again I go home from KNH without my second son,” he narrates. “We laid him to rest on September, 4, 2015, in Githunguri, Kiambu County, next to his twin brother who had passed away 10 years earlier.”

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Treatment aims to improve patients’ quality of life

Duchenne muscular dystrophy (DMD) is a genetic disorder characterised by progressive muscle degeneration. It is caused by the absence of dystrophin, a protein that helps keep muscle cells intact.

The muscle weakness usually begins at between the ages of three and five, and worsens quickly. “Then it is downhill from there,” said Ms Scola Muthamia, the co-founder and chairperson of the DMD Foundation Kenya, during an interview. Most children cannot walk by the age of 12.

Her son, Ferdinand Mutugi, 13, was diagnosed with the disease seven years ago and started using a wheelchair in 2015.

Usually, muscle loss occurs first in the upper legs and pelvis, followed by those of the upper arms.

In most cases, boys inherit the condition from their mothers, but a third of the cases are due to a new mutation in the gene of the protein dystrophin. Treatment mainly controls the symptoms and improves the quality of life since the condition is incurable.

The average life expectancy of DMD sufferers is 26, but with good care, some live into their 30s or 40s. Otherwise, most patients become essentially “paralysed from the neck down” by the age of 21.

For now, stem cell-based therapy is considered one of the most promising procedures for treating muscular dystrophies.

Stem cells are defined by certain features and, foremost, an ability for long-term self-renewal and the capacity to differentiate into multiple cell lineages. ‘Self-renewal’ refers to cells’ ability to undergo cycles of division while maintaining the same undifferentiated state as the parent cell.

The first patient with DMD to be granted FDA approval for adult stem-cell therapy in the United States turns 32 this year, according to non-profit organisation Coming Together for a Cure.