The Challenge in Diagnosing Rare Diseases in Kenya
This blog post is the first of a three-part series on the state of Rare Diseases in Kenya written by Grace Njoroge, a recent Genomic Science graduate from JKUAT, and an intern at Mawazo Institute, with an interest in promoting genetic literacy on Rare Diseases in Africa.
On 28th February 2020, Rare Disorders Kenya, a community of people, and their support networks, with rare diseases in Kenya, invited the public to join them in celebrating Rare Disease Day at Gertrude’s Children’s Hospital. The event drew local practitioners, families, and patients affected by rare diseases, and was one of many such international commemorations taking place. For advocates of rare diseases, Rare Disease Day is an opportunity to create, and increase, awareness in the general public, and with policymakers, around the need for research, increasing equity and raising the patient voice as stipulated by the various Rare Disease Day themes from the last 5 years. But, what exactly is a ‘rare disease’?
A disease is termed as rare if it affects a small percentage of people in the general population. What classifies as a small percentage, varies from country to country. For example, in Europe, a disease is considered to be rare when it affects 1 person per 2,000 people. Whereas in the United States, if it affects fewer than 200,000 of the total US population. But despite the fact that these diseases generally affect only a few people in a given population, their collective impact is staggering. In 2019, a scientific paper published in The European Journal Scientific stipulated that up to 300 million people in the world are living with rare diseases; accounting for 4% of the estimated world population of 7.5 billion. Put another way, rare disease patients across the globe make up 5 times the total population of people living in Kenya.
There are up to 7,000 distinct rare diseases which can be chronic, progressive, degenerative, and often life-threatening. Some of these diseases may be observed at birth or childhood, like Muscular Atrophy or Rett Syndrome, but 50% of Rare Diseases appear during adulthood. Nearly 80% are genetic, caused, wholly or in part, by a change in a person’s DNA Sequences. This genetic mutation alters the production of proteins that play a critical role in the body, resulting in faulty, inefficient, or absent protein. Rare diseases can also be infectious diseases such as auto-immune diseases and cancers that occur in a rare form.
However, not all genetic diseases are rare, like sickle cell anaemia, a blood disorder with a high occurrence rate. Two hundred and forty thousand children in Africa are born with the disease each year. This doesn’t hold true in all countries as in the case of countries like Austria, where Sickle Cell Diseases (SCD) is uncommon and termed as a rare disease. This is why each country having its own definition of a rare disease is essential.
“Rare is many, Rare is strong, and Rare is proud.” With these words, the Rare Disease Day 2020, marked on February 29th, advocated for increased equity for the rare disease community, emphasizing that rare isn’t scarce, rare isn’t infrequent, and rare isn’t remote. Despite the lack of a formal database or Rare Disease registry in Kenya, several cases of these diseases have been reported. In the case of Joan Murugi, for example, her poor eyesight was later diagnosed as Marfan syndrome (MFS), which is an inherited disorder that affects the connective tissues in the body. In Kenya, well-known diseases like Multiple sclerosis (MS) are also classified as Rare Diseases by Rare Disorders Kenya due to their low prevalence.
Creating awareness of these diseases in Kenya is only the first milestone. There is a dire need for establishing a Rare Disease database of patients. This will be helpful in conducting research, and in improving the diagnosis rate of these rare diseases. Currently, the lack of scientific and medical knowledge of these diseases results in misdiagnosis like the case of Johnathan Okoth whose Guillain–Barré Syndrome (GBS), a condition in which the immune system attacks the nerves, took six years to be diagnosed. He is just one of many Kenyans affected by rare diseases who suffer delayed treatment or lack treatment entirely.
Those affected by these diseases are more socially, economically, and culturally vulnerable and isolated. Despite the scarce treatment options available for these diseases, in Kenya, there are several organizations actively involved in creating awareness of Rare Diseases in the country and also providing a support system for rare disease patients and caregivers. Rare Disorders Kenya and Steps By Stone are among the organizations at the forefront of this in Kenya. Advocacy plays a crucial role in creating awareness of the existence of these diseases in Kenya and also feeds into research and developments by creating epidemiological data of the diseases which are otherwise unavailable.
Additional resources:
There are several rare disease databases that provide an encyclopedia of rare diseases, which provide useful information to patients and their families as well as researchers on disease descriptions, classifications, genetic testing, and genetic mutations.