dyton mupawaenda
Rumbidzayi Zinyuke-Health Buzz
As the world commemorated Rare Disease Day last week, Tinotenda Mudarikwa bravely stepped forward to share his story—a journey marked by resilience, isolation, and a relentless pursuit of answers.
Born with imperforate anus, a rare congenital condition affecting one in 5 000 live births worldwide, Tinotenda has spent his life battling a condition that few understand.
He has undergone eight surgeries, struggled with incontinence, and faced the psychological burden of stigma and misunderstanding.
His story is not just personal. It highlights a broader crisis: the lack of awareness, research, and medical support for people with rare diseases in Zimbabwe and beyond.
Rare diseases, by definition, affect fewer than one in 2 000 people, but collectively, they impact over 300 million people worldwide.
According to the World Health Organisation (WHO), there are between 6 000 and 8 000 rare diseases, yet only five percent have an approved treatment.
Many of these conditions are genetic, though some arise from bacterial or viral infections, environmental factors, or autoimmune disorders.
In Africa, these diseases remain largely invisible within healthcare systems, leading to frequent misdiagnoses and inadequate treatment.
The lack of a national rare disease registry in Zimbabwe further complicates efforts to provide targeted healthcare interventions, leaving countless patients without proper medical attention.
For Mudarikwa, the road to diagnosis was long and frustrating.
Doctors initially misdiagnosed his condition as a hernia. It was only years later, after encountering a similar case on social media, that he fully understood what he was living with.
“I grew up not knowing exactly what I was dealing with till I came across an Australian on Facebook sharing his story. I learnt that I was suffering from exactly what he was talking about,” he says.
“That’s how I got to know of my real diagnosis. Through sharing my story, I want to reach out to others with the same condition, and let them know they are not bewitched. Rather, they have a rare disease, which might be difficult to diagnose and needs specialist intervention.”
Mudarikwas experience reflects a harsh reality for many rare disease patients, who often rely on online communities and foreign medical sources to piece together the information that local healthcare providers cannot offer.
Even when a diagnosis is made, treatment remains elusive. Medications for rare diseases—known as orphan drugs—are prohibitively expensive and rarely available in Zimbabwe, forcing families to seek costly and unreliable alternatives.
According to the National Organisation for Rare Disorders, some rare disease treatments can cost up to US$500 000 per year, an impossible sum for the majority of patients in low-income countries.
Imperforate anus is just one of thousands of rare conditions, yet its challenges are shared by those with sickle cell disease, Gaucher disease, Duchenne muscular dystrophy, progeria, and Ehlers-Danlos syndrome, among others.
Many of these illnesses remain underdiagnosed, with health professionals often unfamiliar with their symptoms and progression.
This knowledge gap exacerbates the already daunting struggles faced by patients, leading to delayed interventions, mismanagement of symptoms, and preventable complications.
The global fight against rare diseases has gained momentum in recent years, particularly with the intervention of the WHO.
In December 2019, WHO and Rare Diseases International (RDI) signed a Memorandum of Understanding aimed at integrating rare diseases into international health policies.
The agreement aligns with WHO’s 13th General Programme of Work (GPW13) for 2019-2023, which seeks to expand universal health coverage to 1 billion more people.
Through this collaboration, WHO and RDI are working to increase awareness, improve access to diagnosis and treatment, and establish a global network of medical experts and centres of excellence dedicated to rare diseases.
Despite these international efforts, Zimbabwe remains far behind in recognising and addressing the needs of rare disease patients. There are no specific national policies, and healthcare professionals have limited specialised training in diagnosing and managing such conditions.
Mudarikwa believes that the Ministry of Health and Child Care should take concrete steps to acknowledge rare diseases as a public health priority. He advocates for increased funding for research, improved access to essential medications, and the establishment of local support groups where patients can exchange information and offer each other encouragement.
“I would love to see our Government openly acknowledging that there are rare diseases and allocate resources towards research. Society can also play a pivotal role in providing care for persons with rare diseases and create support groups to exchange ideas and support each other,” he says.
Beyond the medical challenges, rare diseases also place an enormous financial and emotional burden on affected families. Many households sink into poverty trying to access treatments not covered by public health systems.
Without Government assistance, patients resort to crowdfunding, international charities, and alternative medicines that may do more harm than good.
The psychological toll is equally devastating, with many patients battling depression, anxiety, and social isolation.
Mudarikwa knows this struggle all too well. By the time he finished high school, the emotional weight of his condition had led to a mental breakdown. He was eventually diagnosed with bipolar disorder with narcissistic personality disorder tendencies.
This, coupled with the constant stigma he faced, made it difficult for him to find acceptance within society. Rare diseases are often misinterpreted in African cultural contexts, with many believing they are linked to witchcraft, curses, or spiritual punishment. Such misconceptions further isolate patients, discouraging them from seeking proper medical care.
Despite these hardships, he remains determined to change the narrative. He believes that awareness, research, and policy change are crucial in transforming the lives of rare disease patients in Zimbabwe. As the world observed Rare Disease Day, Mudarikwas story served as a reminder that behind every statistic is a person longing for understanding, dignity, and a life free from fear.
For Zimbabwe to make meaningful progress in tackling rare diseases, urgent steps should be taken. The Government should officially integrate rare diseases into the national health strategy, ensuring that healthcare professionals receive proper training, and that affected individuals have access to affordable treatment.
Establishing a rare disease registry will also be critical in gathering accurate data and facilitating better healthcare planning. Public awareness campaigns will play a key role in dismantling stigma and fostering a more supportive environment for those with these conditions.
The fight against rare diseases is not just an issue for developed countries—it is a human issue that affects people across all regions, including Zimbabwe.
Now more than ever, it is crucial to move beyond silence and inaction, ensuring that no one is left behind in the pursuit of universal healthcare and medical equity.
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Fast facts
A rare disease is a disease that affects a small percentage of the population.
Examples of rare diseases
Huntington’s Disease: A genetic disorder that causes the progressive breakdown of nerve cells in the brain, leading to motor and cognitive decline.
Gaucher Disease: A genetic disorder where the body doesn’t have enough of an enzyme called glucocerebrosidase, leading to fat buildup in the liver, spleen, lungs, and bone marrow.
Pompe Disease: A metabolic disorder caused by the absence of the enzyme acid alpha-glucosidase, resulting in the build-up of glycogen in the body’s cells, mainly affecting muscles.
Kawasaki Disease: An autoimmune condition that primarily affects children and causes inflammation in the blood vessels, leading to symptoms like fever, rash, and swollen lymph nodes.
Factor V Leiden: A genetic mutation that increases the risk of abnormal blood clotting, which can lead to deep vein thrombosis (DVT) or pulmonary embolism (PE).
Alkaptonuria: A metabolic disorder that results in the accumulation of homogentisic acid, causing darkening of urine and leading to joint and heart problems over time.
Fibrodysplasia Ossificans Progressiva (FOP): A disorder where soft tissues progressively turn into bone, severely restricting mobility over time.
Cystic Fibrosis: Although more well-known, it’s still considered a rare disease, affecting the lungs and digestive system due to a genetic mutation impacting mucus production.
Characteristics of rare diseases
Many rare diseases are genetic
75 percent of rare diseases affect children
70 percent of rare diseases begin in childhood
It can take years to get a diagnosis for a rare disease
Online Reporter