adminSamuel Kadungure Senior Reporter
UNLESS affected by the disease, one hardly comprehends the unbearable pain and ordeal that victims of a life-limiting disease, Duchene muscular dystrophy (DMD) and their families go through consistently. Muscular dystrophy are devastating conditions that cause progressive muscle weakness due to the breakdown and loss of muscle cells, eventually condemning its victims to wheelchairs by their teens and death in their 20s.
It is an inherited condition which attacks mostly boys and is caused by lack of a single important protein called dystrophin in the victim’s muscle fibres. The protein helps to protect muscles from injury as they contract and relax. Its absence in the patients with the disease results in the muscles being damaged and eventually stops working.
The disease was discovered about 200 years ago, but is rarely known in Zimbabwe. The truism of its catastrophic effect is being felt by six boys from the Gwizo and Chisuko families of Honde Valley and Odzi, respectively, diagnosed with the condition in 2012 after inheriting it from their mothers.
The boys, from the ages of five to 14, were unable to walk, climb and run and now as they approach their teens, the severity of their condition has degenerated into a mortal threat.
The boys’ condition deteriorated at the hands of primary healthcare providers such as clinics and physiotherapists, who prior to their rescue by local NGO – District Outreach for Care and Support (DOCAS) in 2012 had absolutely no idea that the boys were suffering from DMD or how to handle it.
Such lack of knowledge about the disease is horrific and it is high time the disease got a voice like HIV and Aids and cancer since it has a severe negative impact on one’s life.
American neurologist, Dr Peter Karachunski, who was in Zimbabwe recently to diagnose the six — Knowledge (15), Tawanda (13), Learnmore (8) and Courage Gwizo (6); Blessing (11) and Alan Chisuko (6) — made fresh startling revelations.
Dr Karachunski said apart from the progressive loss of use of their arms and paralytic limbs — the condition had severely damaged their breathing muscles, causing shallow gasp and a compromised cough mechanism.
As a result their hearts and lungs would give in, causing them to suffocate.
Already the boys are bedridden and cannot walk or pick themselves up, having developed deformities around joints and were incoherent in speech having developing learning and behavioural difficulties, which according to medical explanation arise from the effect the disease has on the brain and to physical limitations.
“They are severely affected since some stopped ambulation at 10 and continued to progress with progressive muscle weakness that affected their lower and upper parts. The weakening of breathing muscles leads to chronic respiratory failure — a respiratory compromise that makes one prone to infections like influenza, pneumonia and eventually can be the cause of death as they continue to progress,” explained Dr Karachunski, who also serves as assistant professor of paediatric neurology at the University of Minnesota Medical School, and provides clinical and hospital based services at the University of Minnesota Medical Centre in the USA.
He said this leads to chest infections because mucus and bacteria are not cleared so easily from the chest and as their breathing muscles get weaker, oxygen levels in the blood are reduced, more so while sleeping. As a result the boys experience frequent tiredness, irritability, morning headaches, night time waking and vivid dreams.
Dr. Karachunski who also provides neurology services to paediatric and adolescent patients with Duchene Muscular Dystrophy at the Neuromuscular Clinic at Gillette Children’s Specialty Healthcare, said the six’s condition was incurable.
He also recommended steroids to slow down the progression of muscle decay as well as improve the boys’ quality of life by maintaining high standards of medical care. The neurologists also brought various types of equipment that the boys can use to assist breathing.
The method is called non-invasive ventilation — whereby the patient wears a mask over the mouth and nose which delivers pressurised air. This extra air pressure compensates for the breathing muscles’ weakness.
The non-invasive ventilation machine is portable, and is mostly needed at night to avoid interfering too much with other activities.
Some trials of the machine were done and the results were in the affirmative. Tawanda had this to say: “I can feel fresh air in my lungs”.
Dr Karachunski said patients with DMD should be offered regular “lung function tests” once they start to have significant muscle weakness.
“These are simple tests which can monitor the strength of the breathing muscles and the level of oxygen in the blood. We have brought various respiratory assistive devices to help improve their breathing and oxygen levels and we are trying to find the one most suited to each of them,” he said.
“We need to improve their quality of life and maintain their health at the time. They need appropriate support and necessary care and we have trained care givers, nurses and physiotherapists how to render immediate assistance to them. We have taught them how to do exercises, stretching their contractures, their joints and how to provide them with respiratory support. These breathing devices can be used overnight to prevent the patients from the progressive respiratory compromise”.
Though their life has been turned upside-down the children’s families have hailed interventions by DOCAS to create a normal life for their sons.
DOCAS, a welfare wing of the Apostolic Faith Mission in Zimbabwe, has adopted the children at its newly established Mt. Olive Mission Hospital, the very centre of DMD treatment and research.
Naomi, whose four children are enduring the condition, said the proper care of her children has enabled her family to take an optimistic view of life as well as making them eager to share their experiences with other parents of children with a similar condition.
Health professionals who underwent a two-day training workshop conducted by the visiting neurologist to bridge the knowledge, expressed keenness to stay in touch with children to see how they develop. They said it was imperative for them as primary healthcare givers and physiotherapists to be more aware of the main characteristics of rare conditions such as DMD.
DOCAS founder, Reverend Togara Mapingure, said so far 22 children with DMD condition have approached them for assistance. He said DMD patients and other disabled children attend a special gym session and children’s physiotherapist’s practice.
Rev Mapingure added that the children also see a rehabilitation specialist as well as a speech therapist because some have minor speech problems.
“DOCAS focuses on improving quality of life and encouraging full participation at every age for those with muscular dystrophy and general disability. Through research, we are learning which health care services may be most beneficial for those with the condition, and in collaboration with our partners, we develop tools to assist clinicians treating patients with Duchene muscular dystrophy,” said Rev Mapingure.
Until recently, boys with Duchenne often didn’t live much beyond their teens, according to the Muscular Dystrophy Association. Advances in care have increased survival for many of those with the disease into their 40s and 50s.
Online Reporter