Living with someone with an unusual medical condition brings with it physical and emotional challenges, writes Ntando Makhubu.
Pretoria - I’m filled with emotion at the thought of disabled children and adults being tied up or hidden away in back rooms. They’re kept out of sight of others and their families speak sometimes of being afraid of their physical displays or rare diseases.
Often the families I have met in my reporting job are unable to cope with their demands and cannot cater for their needs, or they are irrationally scared, and this always touches a nerve in me.
And, the more families with such challenges that I encounter, the worse it becomes. In addition, the more information I get, the more upsetting it becomes that the very people who are in dire need remain less privileged. Sometimes disabled people are not cleaned, dressed or fed properly - although there is also the joy of seeing families who embrace the challenge and provide the best care they can for their loved ones.
While the dissemination of information has improved and the majority of families with members with a disability living with them do have the basic idea of what they need to do, living with someone with an unusual condition can be very demanding and brings with it physical and emotional challenges.
There are few statistics for the range and number of rare diseases in South Africa, but stakeholders I’ve spoken to agree that the problem is bigger than has been presented in the media. Also, they agree that there is often little support for families dealing with children with particularly unusual problems.
Rare diseases are characterised by their presence in a very small percentage of the population; they are untreatable; and the majority of them - 80% - are genetic. They know no race, age or gender barrier - 50% of those affected are children and 30% of them sadly don't live to see their 5th birthday.
Geneticists said half of those suffering from a rare disease were born with it, while the other half developed symptoms later on in life.
They face immense hardship, aside from treatment needs which include social, emotional and other problems.
“When picked up in children, rare diseases throw entire families into crisis mode and leave them scrambling for information and answers, which are very often hard to come by,” Dr Kenneth Thomas says.
The situation is no better in adults who are often caught by surprise when diagnosed with a rare disease. Having to deal with a disease which often progresses fast once discovered had devastating consequences on older sufferers, as the mother of a Pretoria east Huntington’s disease sufferer said.
Ann-Marie Ungerer’s son Desmond was diagnosed with the rare progressive brain disorder just before he turned 40, and only after many years of seeking treatment and answers to changes in his condition and state of mind did they understand the problem.
He started losing weight, his behaviour and personality changed, and he developed involuntary body movements. The family went from one doctor to another, saw specialists but found no joy.
It was not until the desperate mother started reading up on the symptoms that the truth hit her - hard. “I realised that his symptoms resembled those of his father before he died,” she said. Her husband, she said, committed suicide after he developed symptoms similar to those his mother had had.
Though distraught, Ungerer said she picked herself up and started investigating and arming herself with the information she would need to help her son. The family struggled to get treatment, but most devastating, she said, was feeling alone in the situation of Huntington’s.
Support, according to Thomas, was the next phase after diagnosis. “The support and opportunity to identify with others in the same situation is the next biggest step,” he explained.
It helps people pull out of the initial phases of denial, failure to accept, and blame and the realisation that they might be unable to deal with what was presented to them.
Social workers said support of like-minded families could not be underestimated, with Katlego Maubane saying lack of information and support from the public health sector, fear and superstition about these conditions, could have devastating consequences on communities.
Support groups provide information and a chance for people to share experiences and get advice, and are a safe place where coping mechanisms are showcased.
The Bela Bela mother of Xeroderma Pigmentosum child Boikoketso Magana, 5, found her support structure in Mpumalanga for the extremely rare disease which affected only a handful of the population. Her daughter’s condition makes her unable to go outside to play, even on a cloudy day. If she does she risks severe burns to her skin which is itchy and extremely sensitive to touch.
Dorothy Magana and her family were lost when they received the diagnosis years after seeking treatment for Boikoketso.
With the extreme measures that must follow to protect her, the little girl is often irritable and grouchy. “All she wants is to be a small child who runs and plays with other children but she can’t,” her mother says - unless she is completely covered from head to toe in protective clothing.
The World Health Organisation (WHO) says approximately 33 000 people could suffer from the inconclusive number of rare disorders that present themselves in all manner of conditions in the country, and local health practitioners agree that efforts to manage the diagnosis and treatment of symptoms could be better.
There is no awareness on most of the approximate 8 000 diseases that could exist, but mostly go undiagnosed due to technology restrictions and lack of reporting to authorities.
Among rare diseases which are often misunderstood are albinism, progeria, polio, elephantitis, all of which remain a challenge for the sufferer with the medical profession still working on adequate treatments. Albinism is a congenital disorder affecting about one in 20 000 people worldwide who lack pigment in their skin, hair and eyes. It is more common in sub-Saharan Africa.
Then there was Adoma Lande, whose visit to the Pretoria News showed just how disabling his condition is. The 38 year-old man bent back and forth, involuntary movements forcing his body upright at the waist before forcing his knees to buckle any way.
He said that for the past four years he had been unable to feed or dress himself and endured constant stares from the public.
As depressing as the stories of the struggles of people with disabilities and their families were, the lack of information, the lack of awareness and the lack of willingness by the powers-that-be to address the particular challenges facing some left me with feelings of despondence.
But the saddest thing is that while those with money can afford top treatment, those at the back end of the poverty line remain worst affected because they are unable to access information or to find those who can offer guidance and assistance; one of the reasons they came to tell us their stories.
@ntsandvose
Pretoria News
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