Insights from a Postdoctoral Scientist and Rare Disease Advocate, Dr. Mendi J. Muthinja

This blog post is the second of a three-part series on the state of Rare Diseases in Kenya 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. 

In the first blog post, we looked at what Rare Diseases are and the challenges in diagnosing them in Kenya highlighting key issues like: the lack of a Rare Disease registry in Kenya, inadequate medical practitioners and researchers apt with knowledge of rare diseases, and the dire need for rare disease advocacy.  

In this piece, we interviewed Dr. Mendi J. Muthinja, a Postdoctoral Researcher and Rare Disease advocate:

Dr. Mendi is a scientist whose background is in molecular parasitology, genetics and biophysics. Her Alma mater is Heidelberg University, in Germany, where she pursued a PhD in the biology of the Malaria parasite. Her formative years were spent at the Jomo Kenyatta University in Nairobi where she studied genetics. As a result of her academic training, her passion is in human genetics more so the African genome. The African genome carries a lot of mystery because it is the least studied. Her goal is to change that by contributing scientifically. To hone her skills, she works as a Postdoctoral scientist at Freiburg University where she studies genetics in the context of Blood cancer. In parallel, she chairs a non-profit called HD-Africa where she advocates for Huntington’s disease and pushes for research in the same. With the help of scientific data on Huntington’s disease, she hopes to inform policy and management of the disease for the long-forgotten African patient. 

Q: What does it mean to be a Huntington Disease advocate and what are the positive impacts of Rare Disease advocacy? 

It means interacting with knowledge at many levels, learning from neurologists, listening to patients’ voices and their caregivers, attending scientific meetings, and learning from leading experts in the field. It means interrogating published data, and contextualizing it for the local community I am advocating for. It also means carrying out research and presenting data.

Q: As a biomedical researcher and chair of Huntington’s Disease Africa, what areas of neglect in  Rare Diseases have you observed in Kenya and how can we solve them?

Research drives knowledge, and unfortunately, it is missing for Rare Diseases. We cannot understand what we do not study. We can rely on knowledge generated in other parts of the world; however, we always have to contextualize it to our population, its challenges, and needs. A lot of Rare Diseases have a genetic basis, this means we need multidisciplinary teams to properly handle patients. For example, for Huntington’s disease, we would need neurologists, geneticists, genetic counsellors, psychotherapists, physiotherapists and speech therapists. As the needs of the patients increase, the amount of expertise needed to care for them also snowballs. Currently, only 1 out of a possible list of 6 specialists attends to a Rare Disease patient. We, therefore, need to build our diagnostic capacity, by training Rare Disease medical professionals, as well as ensure equitable access to healthcare and medication for affected individuals. Affected families also need support to help them cope with the extended periods of health deterioration. This support could take the form of dedicated care homes and end of life care facilities. 

Finally, we can support research in Rare Diseases by creating government-funded programs for scientists and doctors.

Q: Before HDA, your research focused on plant genetics (at the Kenya Forest Research Institute) and the genetics of parasites and other vectors for infectious diseases such as malaria, trypanosomiasis. Having worked in both these research fields, what are some of the observable differences in opportunities, funding and research? 

Actually, the Kenya Forest Research Institute and Kenya Wildlife Service were fun places where I did internships that did not directly feed into my scientific path.  My scientific curiosity was spurred during my genetics lectures at JKUAT and given wings to fly at ICIPE where I was flung into the world of infectious disease research. 

Now, funding is generally quite scarce for the African researcher, and you may notice that most awarded grants are often thematic. As you can imagine, because Sub - Saharan Africa bears a heavy Infectious Disease (ID) burden, IDs are preferentially funded. Our government has the ability to fund outside of these mostly donor defined themes to ensure our science is more holistic and not ID-focused. This way, we can tailor our solutions to other equally important existing local problems such as Rare Diseases.

Q: Having interacted with patients with Huntington’s Disease in Africa, what is the diagnostic odyssey in patients with HD, and what can be done to solve this? 

Well, the experience ranges from delayed diagnosis due to misdiagnosis, to a complete lack of diagnosis due to a lack of experts or a lack of money. 

In addition, HD patients face stigma. We need to normalize talking about HD so that affected individuals do not shy away from seeking professional help.

I will reiterate that to change this, we must train more Rare Disease experts, and develop the infrastructure needed to support them i.e., fully-fledged genetic diagnostic labs especially in government hospitals. 

Q: What measures or policies can the Kenyan government enforce to help the research of Rare Diseases in Kenya and help patients already affected with these diseases?

Dedicate funding to Rare Disease and genetics research. Increase research output at universities by funding full scientific positions, not just administrative tasks.

Subsidize the medication for Rare Diseases. We need to consider that this is a vulnerable part of the population that is not able to generate income due to the development of various physical challenges. 

Introduce Rare Disease training for general practitioners and nurses so that proper diagnosis and treatment are more probable at the grassroots. Policies around ethics and data protection for rare genetic disease cases should also be taught.

Q: Is there anything else you’d like to add or that you would like our readers to know? 

I urge everyone to be compassionate to those suffering from Rare Diseases, treat them with dignity and keep talking about rare diseases until everyone knows what they are. I call on all stakeholders to give of their time, expertise, and money to Rare Disease work.