By Diana Chiyangwa
Johannesburg, South Africa: “Mentally it is draining, watching your child’s health crumble and his lovely body deteriorates, but there’s nothing that can be done. Just coping mechanisms are suggested.”
Sibongile Mofokeng a South African mother begins telling her story of resilience while taking care of her sick son.
“Being a first-time mom is a very exciting and memorable experience. I started pushing around two in the afternoon, and the baby came at about six thirty in the evening. As usual, the baby didn’t come head first, I pushed so hard that the baby came out flying to the bed, its skin was pitch-black and at some, I thought it was a black beauty. After I held him on my bosom, the nurses took the baby away, and when they returned it with a normal pink skin colour.” Mofokeng narrates.
After enduring an 18-hour labour pain, on 16 January 2007, Mofokeng finally gave birth to her beautiful bouncing baby boy whom they named Prosper.
“All was well with King Prosper until when he was a year and ten months old, he stopped mumbling the baby language for weeks, he stopped crying like babies would when they needed something,” said Mofokeng.
Growing up,” King Prosper” as his mother and everyone else affectionately calls him, could walk, but at this stage, he refused to walk unless balancing on something. “He would walk, even lead the way when one held his hand but if you left his hand, my little King Prosper would sit,” added Mofokeng.
Diagnosis
Upon visiting their then Paediatrician for vaccines, the Dr discovered that King Prosper had a weak muscle tone and requested he is brought back in two weeks for a referral to a see Neurologist. This did not happen as Mofokeng’s strong faith in God convinced her that King’s Prosper condition will see him being able to walk again.
“As a praying mother, I commanded the situation to turn because we were not going back to that doctor,” explained Mofokeng.
Duchenne Muscular Dystrophy is known to result from a defect in a single important protein in muscle fibers called dystrophin and is caused by a fault in a gene that is located on the X chromosome. Boys inherit this gene (with the X chromosome) from their mothers, who are generally not affected.
Duchenne Muscular Dystrophy, is one of the most frequent forms of muscular dystrophy, affecting approximately 1 in 3500 male births. It was described in 1868 by a French Neurologist, Guillaume Benjamin Amand Duchenne, and was named after him. He was of the first people to study muscular dystrophies. Duchenne Muscular Dystrophy is an X-linked inherited disorder and affected individuals are generally boys, with girls being carriers of the faulty gene.
Duchenne Muscular Dystrophy accounts for 50% of cases with the most severe form of Muscular Dystrophy affecting children. Similar to King Prosper’s condition, most affected boys develop the first sign, which is difficulty in walking, at the age of 1 to 3 years.
“Prosper was clumsy in his walk, he toddles and bumped into walls and hurt himself a lot. His eye coordination was not well coordinated. He also struggled to stand up after sitting on the floor. These were signs of Duchenne Muscular Dystrophy but I didn’t know, I was just a concerned Mother” elaborated Mofokeng.
Young boys living with Duchenne Muscular Dystrophy often walk on their toes with their abdomen pushed forward and with a waddling gait. These are early hallmarks of the disorder and result from weakness of muscles of the pelvis, which normally extend to the hips in order to retain the upright position when standing.
When these muscles are weak there is a tendency for the pelvis to tilt forward and in order to compensate for this the affected boy pushes his abdomen forward (called lordosis) and his shoulders backward. Rising from the floor unaided also becomes increasingly difficult which is also due to weakness of the muscles around the hips. This results in what is referred to as Gower’s sign (difficulty in rising from the floor), after the physician who first described it.
A genetics test was performed on King Prosper, and when a Neurologist suspected that he could be having a Duchenne Muscular Dystrophy condition, he then requested a Genetics doctor for more investigations. Upon receiving the news of the diagnosis, Mofokeng was shocked. “it was a lot to take in but I believed and still believe we will win this battle God is on our side” she said.
A new journey began for Mofokeng and her family after the diagnosis of King Prosper’s condition. Again, like any parent, Mofokeng had big dreams for her son. “I struggled a lot with accepting that the situation is this way now and I need to do a lot to support and love him.”
King Prosper’s health condition was not only Mofokeng’s challenge at that time. She went through a separation and a divorce from King Prosper’s father. Mofokeng, also went through financial challenges and could not afford to take pay for his daycare mother. These challenges led her to depression, and suicidal thoughts.
In the process, King Prosper was also diagnosed with Autism and against all odds, Mofokeng and her family have found a balance in managing King Prosper’s condition. “We understand how he communicates using sounds and we read his eyes, sometimes there is a breakdown of communication and meltdowns and we have learned how to cope with those episodes” added Mofokeng.
“I had to really work on myself, so I can be the best mother to my son. God said I should also forgive King Prosper’s father, so I could love Prosper. I did and it all became much bearable” she said.
Despite these challenges, Mofokeng sought help and went for counseling.
“I healed much quicker when my mother started assisting me with King Prosper, she loves Prosper a lot, she prays for us and this is so humbling,” explains Mofokeng.
Educating the family about the two conditions was the first step Mofokeng took in order for them to understand what lies ahead in King Prosper’s life. Fortunately, Mofokeng has a strong family support structure.
Kgomotso Chirinda, King Prosper’s then-day mother said “Prosper is an amazing child, he is very smart, he knows the time, what not to watch, and what not to eat. He loves nice food, soft music, and cartoons and laughs when he watches funny stuff on TV. I loved every moment, that I shared with them until his grandmother retired and continued taking care of him”.
Mofokeng explained that her family has always been her pillar of strength. “King Prosper is loved and cared for by his nieces and nephews, I made sure I am open with them and allow them to ask any questions regarding his condition,” said Mofokeng.
Speaking about family, Nozipho Rakolota, Mofokeng’s sister said that,” for a very long time as a family we still were in denial, but learning about the condition made us understand and continued to support our sister, and we pray for Prosper each and every day.”
Mofokeng, is a seasoned radio presenter and a weekday host on a show called Heart to Heart, at Radio Pulpit, a Christian radio station based in Pretoria South Africa. Balancing her work and looking after King Prosper, has been a challenge but explained that she is managing because of the support structure she has.
“I am a freelancer at the radio station I work for and I do extra jobs on the side, most jobs that wouldn’t require me to drive out from home, but I am always on the road. So, I make sure to spend quality time with Pro, whenever I am home. Sometimes we drive nowhere slowly, just to spend quality time together, bonding and listening to music” explained Mofokeng.
Mofokeng uses radio and other social media platforms to educate society at large about the condition and their special needs and to challenge stigma and stereotypes.
“We use the opportunity to educate our society when they stare at us or pass comments, or eager to know about the condition, we never get angry at their ignorance but take it as an opportunity to educate them” explained Mofokeng.
“My work has also been so understanding, they have accommodated King Prosper and I, on days where there was no one to look after him, I took him to work and they would feed him and change his diaper’ she said.
what experts say
Duchenne Muscular Dystrophy diagnosis is done through reliable tests that are available once a boy has been diagnosed as being affected by Duchenne Muscular Dystrophy. Affected boys have very abnormally high levels of an enzyme called creatine kinase (CK) in their blood. Most hospital laboratories can perform the CK test.
Professor Shahida Moosa, the specialist Consultant in Medical Genetics at Tygerberg Hospital and Associate Professor of Medical Genetics at Stellenbosch University, explained that “for families with rare diseases, the journey to a diagnosis becomes an odyssey that is punctuated by multiple tests and investigations, some that are painful and invasive and many that are unnecessary, and that despite consultation with numerous specialists, many are still left without a diagnosis or find themselves on a misdiagnosis odyssey.”
Mofokeng had undergone genetic testing to determine whether she was a carrier or not. Her blood samples were taken and sent to the University of Witswatersrand (WITS) in Johannesburg for gene testing. Prosper’s test came back positive for Duchenne Muscular Dystrophy and hers were negative that ruling out her as a carrier of this gene.
Unpacking Duchenne Muscular Dystrophy, Dr. Engela Honey, a Paediatrician interested in children with genetic defects, and a senior lecturer at the University of Pretoria said “in case of a family history, we offer prenatal testing to identify where the gene abnormality is.”
According to Rare Diseases South Africa (RDSA), statistics indicate that 1 in 15 South Africans is affected by rare diseases. Despite this, the rare community is severely under-represented and remains vulnerable from a medical and policy perspective.
Both Duchenne Muscular Dystrophy and Autism, Mofokeng’s journey with King Prosper requires traveling from one health institution to another. They have been in contact with a Genetics Doctor, Dr. Engela Honey, whom they highlighted has never closed doors for them, and also has a Physio Therapist. Recently, they met with the Paediatric Occupation Therapy Department at Kalafong Hospital and Pretoria West Hospital Occupation Therapist, who also have been helpful and warm and did their best to make Prosper’s life easy.
National Health Institute: Rare Diseases in context, indicates that, despite an 85% GDP spent on health care, South Africa is among the worst performing in the world in terms of health outcomes.
With cases like Duchenne Muscular Dystrophy, Dr. Honey said, “for certain countries the genetics drugs are available, unfortunately in South Africa, we do not have to access these drugs.”
Dr. Nicholas Crisp, Deputy Director General National Health Insurance, National Department of Health noted, “all healthcare providers, public and private, should be accessible to everybody purely based on their need for healthcare.”
In 2021, the Rare Diseases Access Initiative (RDCI), in Association with Rare Diseases South Africa brought together an expert panel to discuss challenges facing those affected by rare diseases in South Africa and to explore possible solutions. An approach to diagnose care, and for increased equity in health care, for people living with rare diseases was made.
Although there is no cure for Duchenne Muscular Dystrophy, a recent study shows that certain exercises can help with muscular dystrophy. Unfortunately, King Prosper’s condition has progressed over the years.
I have to turn King Prosper at night since he struggles to turn himself now, Duchenne Muscular Dystrophy has progressed in the previous years, his back has scoliosis and he is spastic” further explains Mofokeng.
Mofokeng’s message of hope to parents and families who are also on a similar journey, but not able to openly speak about their journey because of fear of being stigmatized by society is that “We are stronger and wiser even more than our Physicians most times because we are with the children sometimes all the time. Never be an island, seek help whenever you need it, and get counseling because the journey can be exhausting, especially if you rarely sleep like us. Join a support group, if there’s any.”
This project was produced as a result of the support from National Press Foundation
