What you need to know:
- Diagnosing and treating rare diseases has become a huge burden because of different challenges the country faces.
- In this first of our four part series on covering rare diseases, Esther Oluka explains the reasons why they are the new silent killers.
John Paul Ofwono rose to fame during the 1990s as the tallest man in the country.
He stood at about 7 feet 6.5 inches (about 230cm) tall. His incredible height was, however, a disorder.
Some media reports claim that Ofwono was suffering from over secretion of growth hormone (from the pituitary gland) which in the end caused enlargement of bones in his feet, hands and face.
The medical term for this condition is acromegaly which manifests in adults.
Before succumbing to diabetes in 2003 at the age of 43, there had been ongoing discussions to take him abroad for specialised medical care. However, Ofwono is reported to have declined the treatment fearing the outcome.
Due to the rarity of his condition in the country, some experts in the medical profession, who spoke to Daily Monitor, reason that it is why help came a little too late for Ofwono. The disorder had taken a toll on his body.
“With rare conditions, patients might take years before knowing what they are really suffering from or they may never discover,” Dr Alex Kakoraki of Murchison Bay Hospital in Luzira, says.
Perhaps, the challenges in managing rare diseases in the country is partly why there are no readily available statistics on these disorders.
Some medical professionals were able to give statistics from only their respective fields.
For instance, Dr Peter Wasswa, a paediatric hematologist at Mulago hospital, said about 300 patients are registered with Hemophilia Foundation of Uganda (HFU), a non-government organisation which helps create awareness on hemophilia, a bleeding disorder among patients.
“Yet one would expect to have about 2,000 patients with the condition in a population of about 42 million Ugandans,” Dr Wasswa says.
There are many cases that are undiagnosed or undetected and Dr Wasswa believes that it is because of limited access to the right treatment.
Dr Richard Kwizera, a medical mycologist at the Infectious Diseases Institute, College of Health Sciences, Makerere University, says Chronic Pulmonary Aspergillosis (CPA) is another often rare and misdiagnosed condition.
“It is a slowly progressive and destructive parenchymal lung disease which affects both immunocompetent and immunocompromised patients with previous or underlying lung disease,” he says.
Dr Kwizera says the condition may be misdiagnosed as any other lung disease including tuberculosis. In the end, patients may miss out on getting the right treatment.
The condition affects three million people worldwide.
The other challenges with handling rare diseases, Dr Kwizera says, is that some of these conditions do not manifest as chronic in nature and are not that painful.
“And for such reasons, patients may ignore the condition or sometimes conclude that it is witchcraft. They will then go out seeking for alternative medicine and only when things get worse do they then start seeking better treatment, when the situation has already spiraled out of control,” he says.
He added that in some circumstances, “a section of patients easily give up on life after discovering they are suffering from a mysterious condition.”
One patient battling an unusual skin condition told Daily Monitor, on condition of anonymity for fear of being stigmatised, that she has given up on seeking the cure.
“Where haven’t I gone in the past five years? I have been to almost every specialist but they cannot quite figure out what is wrong with my skin,” she says.
Due to her condition, some individuals don’t want to be near her, a move the woman says is mentally tormenting her.
Dr Alex Bakenga, a clinical medical officer at the Uganda Cancer Institute (UCI), said one of the biggest challenges when handling any patient with a rare condition is that a lot of time and resources need to be injected into investigating a respective health issue.
“This is all because a medical expert is trying to be sure with what they are dealing with before commencing treatment,” Dr Bakenga says.
But even with thorough attention that might be given in conducting an investigation on a rare disease, it can be misdiagnosed, as the disease continues spreading fast in the body.
In September, while giving an online presentation on the theme: Rare Diseases: A Global Challenge, Samuel Wiafe, a clinical psychologist in Ghana, stated that poorer (African) countries are more focused on treating major infectious diseases than rare ones.
“We have been focused on dealing with cholera, tuberculosis, HIV, malaria, and many infectious diseases,” Wiafe said.
To be able to get decision makers to pay close attention to the concept of rare diseases, Wiafe said “Remains a huge challenge largely because of limited funding to respective health sectors and in so doing, governments will have no option but prioritise and in so doing, will opt to neglect dealing with rare diseases.”
The reporting of this story was supported with a grant offer from National Press Foundation (NPF) to exclusively cover Rare Diseases in the country.
Summary of some of rarely diagnosed diseases in the country
• Acromegaly; over secretion of the growth hormone (from the pituitary gland) which in the end causes enlargement of the bones in the feet, hands and face.
• Gigantism; a rare condition caused by excessive amounts of growth hormone during childhood.
• Autoimmune disease; a condition in which your immune system accidently attacks your body instead of protecting it.
• Sleeping Sickness, or human African trypanosomiasis; one of the most important but equally most neglected tropical infections caused by related parasite strains transmitted by a tsetse fly. The disease can lead to disruption in sleeping patterns, confusion, among other signs.
• Giant Cell tumor of the bone; a rare, aggressive non-cancerous tumor which develops near a joint at the end of the bone.
• Chronic Pulmonary Aspergillosis (CPA); a slowly progressive and destructive parenchymal lung disease which affects both immunocompetent and immunocompromised patients with a previous or underlying lung disease.