Responses to the Challenges in Diagnosing Rare Diseases in Kenya
Photo Credit: Pixabay
Author: Grace Njoroge
In the first blog of this three-part series, we looked into what Rare Diseases are, and the challenges in diagnosing Rare Diseases in Kenya. We then interviewed Dr. Julianne Mendi, a Postdoctoral Researcher, and Rare Disease Advocate. In the interview, Dr. Mendi highlighted the need for more Rare Disease experts in Kenya and dialogue on Rare Diseases that can help reduce stigmatization for patients and caregivers.
In this piece, we will look at the efforts being made to address some of the issues highlighted in our first blog, such as lack of a local registry, lack of scientific and medical knowledge by local practitioners, and scarce treatment options. We also explore possible solutions to the challenges still facing Kenya’s Rare Disease community.
2014 marked the first known year that patient organisations in Kenya joined in the International Rare Disease Day commemoration, held annually on the last day of February. But even before this, reportedly, Rare Diseases patients sought expert opinion from practitioners overseas. Many Rare Diseases in the country still go undiagnosed resulting in grueling experiences of the diagnosis odyssey faced by patients. Over the years, patients have been unrelenting in their efforts to raise awareness of these diseases through newspaper features, talk shows, and online platforms like YouTube.
The impact of Rare Disease patients and caregivers is undeniable. Several associations, support groups, and organisations formed in Kenya, are increasing awareness about these diseases and forming a community that can provide a safe space for patients to interact, and encourage each other as they walk through uncharted territories.
Dr. Laura Musambai, a medical physician who was diagnosed with Multiple Sclerosis when she was 15 years old, founded the first Multiple Sclerosis (MS) support group in Kenya. The group Multiple Sclerosis Association Kenya has since grown into a fully-fledged organisation that connects people affected by MS, with professionals working in the field, as well as those afflicted by a similar disease called Neuromyelitis Optica (NMO).
Christine Mutena, a mother to a child with a Rare Disease, founded Step by Stones, a platform whereby parents and well-wishers of children with special needs can come together and share their experiences. She is also the Co-Founder of Rare Disorder Kenya, a community of people with rare diseases and those who support them. Christine is also the International Ambassador - Africa for Chromosome 18 Registry & Research Society, an advocacy organisation located in the United States, Australia, and Europe, that helps people with chromosome 18 abnormalities overcome the obstacles they face so that they may lead healthy and productive lives.
But the role of Rare Disease patients and caregivers goes beyond advocacy. The patient voice is crucial in research, drug development, and diagnostics. Patient groups like Rare Disorder Kenya, have raised awareness of the need for newborn screening, prenatal diagnosis, specialised healthcare providers like genetic counsellors, and the inclusion of Rare Diseases in medical insurance coverage, to help cater for diagnosis and treatment costs.
The collaborative partnership between Rare Disease researchers, medical practitioners, and patient groups will play a significant role in the adoption of public policy, research funding, and also drug development. Admittedly, it’s not every day a medical practitioner encounters a Rare Disease. It is this unfamiliarity that causes the patients to move from doctor to doctor before the condition is fully understood or diagnosed. Equipping both doctors and medical students with the resources available for Rare Diseases such as online databases will help in both the recognition and management of Rare Diseases.
Despite the commendable progress being made by Rare Disease advocates in Kenya however, there remains a lag in the research sector that needs to be addressed. Research focus areas like the magnitude and prevalence of Rare Diseases in Kenya, is essential in identifying characteristics of Rare Diseases. Studying the environmental and genetic compositions of these diseases reveals the biochemical pathways at play which is important for understanding the disease mechanisms and ultimately reveals potential therapeutic targets. As such, these research fields are crucial in drug development for Rare Diseases. Additionally there also needs to be an increase in Rare Diseases researchers and an increased collaboration between the already existing researchers, medical practitioners and Rare Disease patients.
Locally, there is a need for research funding from both private donors and government funding. In recent years the government has increased its attention to non-communicable diseases, which cause slightly more than half (55%) of hospital deaths in Kenya, with a major focus on cancer, diabetes, cardiovascular diseases, Chronic Obstructive Pulmonary Diseases, and mental disorders. There still needs to be an increased focus on rare, genetic and inherited diseases to the non-communicable disease agenda.
Private funding and investment could also help close this research gap. For example, disease – specific foundations like Cystic Fibrosis Foundation, have been successful in attracting investors. Over the years, the Foundation has committed $50 million to $100 million a year in the support of research. Government funding is also required to increase research in Rare Diseases.
Constructing a national registry of Rare Diseases is also a powerful tool that builds collaboration between patients and researchers. The National Center for Advancing Translational Sciences (NCATS), one of 27 Institutes and Centers at the National Institutes of Health (NIH) in the United Kingdom, launched the Rare Disease Registry Program (RaDaR), which provides rare disease communities around the world with easily accessible guidance on how to set up and maintain high-quality registries. The RaDaR program highlights the major milestones needed in setting up a successful registry: learning about registries, principles of registries, ethical and legal aspects, and disease landscape.
A Rare Disease registry provides a great platform where all isolated cases can be brought together to build a community of individuals with the same or closely related diseases. An increase in numbers of these patients creates a better platform for researchers to have more accurate results, and attract more funding for both research and the training of specialized healthcare experts. Availability of both funds and experts in the field forms a better chance for drug development.
According to PhRMA (Pharmaceutical Research and Manufacturers of America), a trade group representing companies in the pharmaceutical industry in the United States, more than 770 orphan drugs, drugs used to treat rare diseases, have been approved by the U.S. Food and Drug Administration (FDA) but 95% of Rare Diseases do not have approved treatments. It takes at least ten years for new medicine to complete the journey from initial discovery to marketplace, with clinical trials alone taking six to seven years on average. With the rarity of each condition, limited research and a reduced life expectancy, Rare Disease patients don’t have 10 years to wait for treatment. We need urgent funding, research, and policy actions that can begin to improve health outcomes for patients now.
For Rare Disease patients, caregivers and supporters who’d like to be part of the international commemoration this year, the Rare Disease Day Organisation website offers a great resource of downloadable communication materials, highlights all the events worldwide, and also highlights additional tips of how one could participate in the event. The National Organization for Rare Disorders (NORD) also invites individuals and families to share their personal accounts of living with Rare Diseases.
If you or someone you know suffers from or suspects they have a Rare Disease, do reach out to the locally available patient groups highlighted in this blog like Rare Disorders Kenya, Steps by Stone, and Multiple Sclerosis Association Kenya among others. The first blog of this three-part series of the state of Rare Diseases in Kenya also highlights several Rare Diseases databases that provide useful information to researchers, medical practitioners and Rare Disease patients.