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When rare disease stuns the experts

 Roselyn Kanja with her son who suffers from Joubert syndrome. [Courtesy]

The first time Elizabeth Njeri fell with a thud while alighting from a bus, she imagined it was because of fatigue. As an active sports tutor in Nairobi, she thought her legs giving way was a sign that she needed to slow down.

A few days later, it happened again. This time, she was walking when she felt weak on her knees.

“My body got suddenly heavy. My legs could not support me, so I lost control and fell on the floor,” she says.

The year was 2009, and it marked the beginning of a journey she describes as full of confusion and tears. Every time she went to a doctor, she was given a clean bill of health.

She went through scans and blood tests, including being subject of a presentation by a group of medical students at Kenyatta National Hospital (KNH) to discuss the bizarre things happening in her body.

“Nobody believed me because all my vital organs were functioning well. I was told I was faking it, but deep down, I knew what I was feeling was not normal,” she says.


For months, she walked in and out of hospitals with different prescriptions that did not help. When she was finally diagnosed with a rare condition called Myasthenia Gravis (MG), she was tethering towards depression.

MG is a neuromuscular disease that leads to weakness and degeneration of skeletal muscle. It is an autoimmune disease caused by miscommunication between nerves and muscles and has no cure.

“Even though the diagnosis was shocking, I was relieved to know what ailed me. I was tired of the guesswork and people telling me I am crazy,” she says.

For Johnathan Okoth, it took six years to be diagnosed with Guillain–Barré Syndrome (GBS), a condition that damages the nervous system.

He was 17 when he started getting the symptoms.

His feet and hands would get suddenly numb and any attempt to move would cause unbearable pain.

“It was a few weeks to Kenya Certificate of Secondary Examination (KCSE) exam and my teachers thought it was exam fever. They would beat me saying I was panicking. When the situation got worse, they told me to seek psychiatric help,” he says.

It is only after he got paralysed that he got diagnosed with GBS, a disease that affects one in every 100,000 people.

These are some of the rare diseases that plague Kenyans, yet they are rarely talked about. Other examples include Duchenne Muscular Dystrophy, Joubert Syndrome, Hereditary Angioedema and multiple sclerosis.

Little research

Data from the World Health Organisation (WHO) indicates that even though rare diseases seem to be few on individual basis, the rarity is lost when they are put cumulatively.

“A very rough estimate would be that one out of 15 persons worldwide could be affected by a rare (“orphan”) disease. This is more than 400 million people worldwide,” reads a report by WHO.

It further states that despite the large numbers, little research has been done on controlling rare diseases, especially in Africa. ?

Dr George Oyoo, one of the only 10 rheumatologists in Kenya, says lack of diagnostic knowledge and tools makes it difficult for people with rare diseases, especially autoimmune conditions to be diagnosed.

“Most doctors have never encountered these diseases, so it never even crosses their minds to check,” he says, adding that only five counties in the country have rheumatologists in public hospitals.

He says lack of information among community members makes it difficult for them to seek treatment.

“Imagine that person living in the village. They go to hospitals and tests cannot reveal what they are suffering from. It is easy to conclude it is witchcraft,” says Dr Oyoo.

Sophia Wangui, a nurse in Nairobi, says most hospitals check for common illnesses, including cancer, and if they do not find any cause of alarm in the major organs, the patient is sent back home.

“If you do a full body scan and there is nothing, what else can you do apart from referring them to another professional? In most cases, it is always for a psychiatric evaluation,” she says. 

Christine Mutena, a mother of two children who has non-related rare genetic condition, says the financial burden can be overwhelming since most of these diseases are chronic.

“Insurance does not cover us. Even NHIF chooses what to cover, and rare diseases are not part of it,” she says. They have formed a support group called Rare Diseases Kenya where people struggling with these diseases and the caregivers who help them can seek psychosocial support.

Dr Andrew Odhiambo, a lecturer and consultant medical oncologist at the University of Nairobi, says it is not only people with autoimmune diseases who struggle with getting a diagnosis.

Hard to diagnose

“There are some cancers such as cancer of the small intestines, breast cancer for men, and some form of sarcomas that are very rare in Kenya, making them hard to diagnose,” he says.

Dr Odhiambo says most often when medics get cases of rare cancers, they have to consult and sometimes even take samples abroad for analysis.

“Some of these conditions are so complex that it requires well skilled pathologists to diagnose,” he says.

Roselyn Kanja whose son suffers from Joubert syndrome characterised by delayed milestones in children, low muscle tone, abnormal breathing patterns, abnormal eye and tongue movements and sleep apneas, says the financial burden of caring for a patient with a rare disease is overwhelming.

“My son has regular Occupational Therapies (OT) every week to help him achieve his milestones,” she says, adding that even though it is exciting to watch him slowly grasp the milestones, it requires money.

They say their hope is that someday, research will be put into the management of rare diseases in Kenya, and they will not have to struggle in silence.

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