Africa’s first-ever case of Huntington’s Disease was discovered in Nairobi

Dr Mendi J Muthinja, 36, is getting ready to immerse herself into the deep end of research, and the thought of it seems to make her come alive.
 
Her interest in rare diseases was piqued by her love for human genetics and a close family member who was diagnosed with Huntington’s Disease (HD).

Dr Muthinja did her masters in genetics at the Jomo Kenyatta University of Agriculture and Technology. She has a PhD in cell biology at the University of Heidelberg in Germany with a focus on genetics and biophysics of the malaria parasite.

She is the founder and lead at Huntington’s Disease Africa.

“I am currently working with like-minded individuals to change the HD narrative. Both locally and internationally. Our goal is to raise awareness, engage policy makers and push HD research forward,” she says.

As she sits down with Healthy Nation, she starts off by disclosing a closely guarded ‘dark secret’ on Africa’s first ever HD case reported 86 years ago.

 “In 1935, the first HD patient in Africa was found in Kenya after a misdiagnosis that saw him declared to be of unsound mind.  Records show that a Mr Karanja, a Kenyan man aged between 40 to 45, was admitted to Mathari Mental Hospital, Nairobi on August 8, 1935.

Those who examined him highlighted that he ate heartily and demanded money from everyone.

Mr Karanja also showed considerable irritability with constant motor restlessness; general discontent, anger attacks and delusions of persecution.  Most of these patients are usually mis-diagnosed or under-diagnosed as they may portray what looks like psychiatric challenges.

HD was first described in 1872 in North America by George Huntington, an American physician after whom the disease is named, in his seminal works. George Huntington was a beneficiary of his father and grandfathers’ observations of this curious disease at their family practice. George meticulously gathered old notes about a family that his physician father and grandfather had followed for several generations. George carefully and concisely described the hallmarks of Huntington ’s disease.

Among these hallmarks were his observation that the disease was a heritable condition that was passed down from parent to offspring. He also recognised that patients had movement disorders and psychiatric disturbances.

George also noticed progressive degeneration in persons with HD, noting that symptoms often appeared in adulthood, culminating in death. HD’s history cannot be written without mentioning this very important study.

What followed next was a description of HD in other regions around the world. While knowledge on HD was growing, the treatment of its patients was lagging behind, with most of them being confined to mental asylums and psychiatric units.

The treatment signified a dark era in HD history.

Interestingly, it is during this era in colonial Africa that the first ever case of HD was described. The year was 1936 at Mathari Mental Hospital when an English doctor encountered the first recorded case of Huntington’s Disease in Africa. After this description, cases were described in other parts of the African continent including Tanzania, Nigeria, Senegal, South Africa, Sudan, Togo, Uganda and Zimbabwe.

While all this was happening in Africa, detailed genetic studies had begun in America led by Nancy Wexler, the daughter of a Huntington’s Disease warrior mother. In 1979, Wexler while being a novice in genetics began a 20-year study of HD that culminated in the identification of the exact chromosomal location of the Huntington causing gene. Wexler led a team of scientists in this pivotal study conducted on the shores of Lake Maracaibo in Venezuela that collected samples which, in 1993, helped an international consortium of scientists to unveil the exact chromosomal location of the gene that causes HD. This discovery was followed by the development of a genetic test to determine whether one inherited the faulty HD gene or not.

Post-1993, HD studies around the world and Africa intensified. In Africa, South Africa led in conducting HD research which utilised genetic testing to ascertain HD inheritance. South Africa also became the first and only African country to offer HD-predictive testing accompanied by genetic counselling. To this day, although other countries like Egypt, Morocco, Burkina Faso, and Gambia have done precise genetic case studies of HD, the rest of the continent still lags behind in administration of genetic predictive testing to its people. The rest of the world has leapfrogged in its advances in HD research and drug development. Many discoveries starting with the exact location of the brain where HD hits, to genome wide associations studies that have revealed how many different parts of our genomes influence HD-prognosis either positively or negatively, have been made.

It is important to note that the HD-community and rare disease community face similar challenges. From the point of view of an African researcher, we have a deficiency of rare-disease experts mostly because rare/orphan disease funding is scarce.

Traditionally, Africa has dealt with a heavy infectious disease burden, which has led to most funding resources going to the same. This means that as a continent we can learn from or replicate our gains in tackling infectious diseases to solve the rare disease challenge. As countries across the world are increasingly prioritising rare disease work, African governments need to do the same without re-inventing any wheels.

Currently, there is limited access to genetic testing and it is not often accompanied by genetic counselling. Basic medication is also not readily available in most African countries and when it’s available, it is very expensive to buy. Apart from medication, tools like wheelchairs that aid in enhancing the quality of life of a HD patient are not readily available. HD patients require accessing neurological imaging every five years; this is usually hampered by cost. However, several pharmaceutical companies are making promising gene therapy-based treatments for HD. Although it has been close to 30 years since the discovery of the gene, Africans are not yet involved in current clinical trials to generate precise gene targeting healing therapies.

My biggest learning has been how unwavering and resilient the human spirit is in the face of adversity.

HD-warriors are the most optimistic, positive people I have met and I continue to be inspired by their strength of purpose and can-do attitudes.

My lowest low is always seeing how HD ravages loved ones and friends.”

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