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Imagine having your child go from healthy, happy, and thriving to being given only five years to live.
Local mom Zuziwe Selepe doesn't have to; her son Omphile lives with X-linked adrenoleukodystrophy (X-ALD), a life-threatening genetic disease.
In the space of one year, the degenerative illness has stripped Omphile of his sight, speech, and ability to move independently.
Zuziwe says the illness has left her family shattered.
'The first time we heard of such a condition'
"One day, I woke up, and my world had been turned upside down. The news left my family and me so devastated. It was the first time we heard of such a condition. The fact is that Omphile's life is going to be cut short… it has been a roller coaster…. It is not fair," she told Parent24.
Born with no complications weighing a healthy 3.4 kilograms and, before X-ALD, Omphile was a social child, academically gifted and active in sports, Zuziwe says.
"Omphile had such dry humour… an easy child to raise for the past twelve years".
Omphile's condition completely caught the family off guard and the shocking diagnosis has inspired Zuziwe to become vocal about her son's story in hopes that it may be useful to other families as so much can change with early diagnosis.
"This is crucial, because as things stand, it appears as though patients wait for nearly a decade for a definitive diagnosis. By that time the irreversible damage has been done, as is the case with Omphile… The few countries I have been able to research are far ahead with their programmes put in place to identify the condition well in time… I was not able to find anything of the sort in South Africa… and this may be a challenge to raise awareness especially for parents, in terms of what they need to look out for during pregnancy or when the children are born".
Also read: 'Our lives changed just like that': A child's journey to recovery
'Something was not right'
It all began in late 2019; an issue with Omphile's eyes had seemingly led to a lack of interest in academics, Zuziwe tells us, which was odd for her boy, she says.
The onset of Omphile's illness also coincided with the start of the Covid-19 pandemic and lockdown restrictions.
"In the first term, he failed dismally. This was the first indication that something was not right. Because of Covid-19 the holidays were extended, which meant that they had to study online. Omphile was less interested in his schoolwork and had to be pushed to do even the easiest task," Zuziwe recalls.
Visits to several optometrists also proved fruitless as the experts could not find any cause for the problem.
"There was absolutely nothing wrong with his eyesight," Zuziwe says.
It wasn't until a CT scan, a consultation with a neurosurgeon and two weeks of testing in hospital that the family learned what was happening to their son.
'A very rare condition'
"On the 22nd of July 2020, the neurologists informed us that Omphile had a condition called X-linked adrenoleukodystrophy, commonly referred to as (ALD). This ALD condition causes rapid deterioration to the body organs and their respective functions, causing blindness, loss of hearing and muscle control, seizures and dementia, which are irreversible and life-threatening. According to the doctors, this is a very rare condition that affects one in 20 000. It [mostly] affects boys," Zuziwe says.
While the mom finally had an answer for what was plaguing her son, their heartbreaking journey was only beginning, as taking care of Omphile requires resources his mom says she does not have.
She now mainly relies on family members for much-needed support as she faces her own health struggles.
"My circumstances do not talk to my new reality… His condition requires that I soak him in a hot bath to relax his muscles that often contract and can be painful. As basic as that may appear to be, I am unable to do it because I do not have the luxury of a bath. The best I can do is to put hot water in a basin and massage him with the hot face cloth".
Zuziwe says doctor visits have also steadily increased, and becoming more and more complicated.
Transport issues have also mounted with the family hoping to find a car sponsor to make Omphile's trips to the doctor more comfortable.
To cope, the family has set up a BackaBuddy fund which has proven an invaluable ongoing resource in taking care of Omphile.
Also see: 'Letting go of those dreams does not mean losing hope': A father's words on raising an autistic son
'I draw so much strength from him'
Admitting that she often struggles with accepting what has happened to her son, the mom says she tries her best to stay focused on the positives; empowering herself with knowledge has made a huge difference.
"What I have learned is that this condition just like any other can take a toll on a person, particularly, as a primary care giver, without a solid support structure. It does, however help me to educate myself about this".
Despite all the challenges, Zuziwe holds on to her "deep faith in God" and is happy to share that her son's optimistic nature remains unchanged and is a great source of comfort when days are dark.
"What is encouraging is that cognitively he is still okay, and we have established our way of communicating. Omphile is such a resilient young man and inspires me so much. In spite of his challenges, he can still appreciate jokes and laughs a lot. I draw so much strength from him, and my deep faith in God, and in my conviction that miracles do happen".
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