In this week’s blog, Samuel Agyei Wiafe, founder/executive director of Rare Disease Ghana Initiative, gives us an insight into his organisation’s journey so far.

Rare diseases reflect a group of conditions with low prevalence, often accompanying the individual from birth and can cause functional or structural abnormalities. They can cause spontaneous abortions and stillbirths as well cause a significant mortality and disability among infants and children under five years old. They can be life-threatening, result in long-term disability, and negatively affect individuals, families, healthcare systems and society. Rare diseases may appear later in one’s life.

There are about 7000 rare diseases reported of which about 80% are genetically inherited affecting about 300-450 million people worldwide. There is currently no sound estimate of the number of people affected by rare disorders attributable to genetic or environmental causes as there exists no national registry to monitor rare diseases in Ghana. This underreports the current statistics and might paint a picture of the nonexistence of rare diseases in Ghana. Despite the underreporting, Rare Diseases do exist in Ghana. Cases have been reported by lead researchers and clinicians like Prof. Ebenezer Badoe, a pediatric neurologist at Korle-Bu Teaching Hospital. He has found that most rare diseases in Ghana were due to consanguineous marriages (very common in some cultures in Ghana). Hospital based data reported from Komfo Anokye Teaching Hospital and Tamale Teaching Hospital also indicated the existence of congenital and genetic disorders in Ghana.

Since the 1950s, congenital anomaly has been one of the major causes of disabilities and deaths in Ghana. Though Ghana has made significant improvements in health outcomes for the population over the past years, rare diseases remain a neglected area in Ghana’s health system. Infant mortality rate has dropped from 133 per 1000 live births in 1957 to 41 per 1000 in 2014, and the under five mortality rate has also dropped from 147.8 per 1000 live births to 60 per 1000 live births in 2014. However, data published by the WHO in 2017 indicates that congenital and rare diseases are the 13th leading cause of death in Ghana with a rate of 14.53 per 100,000 people. This ranks Ghana as the 17th country ill equipped to deal with congenital disorders, thus the high mortality rate. Congenital disorders account for 2.76% of the total deaths recorded in Ghana.

Most rare diseases are chronic and cause various forms of functional or structural disabilities. Majority of congenital abnormalities and rare disease currently do not have an approved FDA treatment. Like many chronic diseases they require a multidisciplinary healthcare system to manage them. Currently, Ghana’s health sector is ill-equipped to deal with the country’s double burden of infectious and non-communicable diseases and rare diseases remain the most vulnerable. Most patients with rare diseases and their families live in rural areas and grapple with the country’s pluralistic and uncoordinated healthcare system. They move from one facility to the other, receive multiple diagnosis and are mostly treated for other conditions. In most cases, by the time they arrive at a specialist who has knowledge of the rare disease, the patient and their family may not have sufficient funds to pay for the various tests and are therefore unable to carry on with the treatment.

Ghana has one of the most enviable health insurance schemes within the West African region which has been in existence since 2003. With the introduction of the National Health Insurance Scheme (NHIS), Ghana has made several strides in attempting to achieve Universal Health Coverage. Despite this, the NHIS does not currently serve the needs of rare disease patients. Families have to pay for healthcare out of pocket.

Rare diseases are chronic and cause both visible and invisible disabilities. Though largely ignored by healthcare, public health and government policies, rare diseases, like most chronic diseases, present a huge public health burden to the country. Chronic diseases receive less attention as a major public health crisis when compared to infectious diseases due to Ghana’s healthcare system historically and currently, placing priority on combating infectious diseases and compounded by inadequate financial and human resources. The high prevalence of infectious and communicable diseases such as TB, HIV/AIDS, Malaria and Cholera and common NCDs create further access challenges for people affected with congenital and rare diseases.

In Ghana there is a general lack of awareness of the impact of rare diseases, coupled with a lack of strong and coordinated advocacy. The current diagnostic and subsequent therapeutic management of rare diseases is still highly unsatisfactory for a large proportion of rare disease patients. Most patients do not have access to information, diagnostic services and treatment options.

Within the WHO health systems framework, a well-functioning health system requires ‘equitable access to essential medical products, vaccines and technologies of assured quality, safety, efficacy and cost-effectiveness, and their scientifically sound and cost-effective use’. This idea has not been fully realized in Ghana especially for people living with chronic, rare and congenital diseases. Currently, there is no national plan which outlines strategies for supporting people living with rare diseases. About 80% of rare diseases are genetically inherited and would require some genetic testing to arrive at an accurate diagnosis yet most of these genetic testing services are not available and accessible to patients. Lastly, little attention is paid to rare diseases in the training of healthcare professionals. Hence clinicians have little knowledge to adequately diagnose and manage rare diseases.

Living with a congenital or rare disorder causes a huge burden for the individual, the family and the entire country. Due to delayed diagnosis many patients and their families experience anxiety, frustration, depression and stress. Due to lack of genetic testing services in Ghana, it may take much longer to diagnose a rare diseases than in other countries. Receiving a diagnosis of a congenital or a rare disorder can be traumatic and challenging in low and middle income countries like Ghana. In addition to the stress associated with the disorder such as delayed diagnosis, little to no knowledge about their condition, unavailability and uncertainty about treatment options, and mental health challenges; patients have to deal with other sociocultural issues such as poverty, stigma and negative superstitious beliefs about undiagnosed and rare diseases. There exists little to no support services for families within the healthcare system. There is therefore a need for a collective effort to resolve this burden of congenital, genetic and rare disorders in Ghana.

The idea to start a rare disease program began in 2017 when I came in touch with a family and I was challenged to find support for this family. After realizing the challenges and the burden of living with undiagnosed and rare disease in Ghana and how rare diseases have been neglected in the healthcare system, Rare Disease Ghana Initiative (RDGI) has been formed to champion the cause of rare diseases in Ghana. The organization which has been duly registered as a national non-governmental organization within the laws of Ghana has grown to currently include a multidisciplinary team of health professionals, researchers, volunteers, patients and their caregivers whose vision is to be the lead and the voice coordinating rare disease care in Ghana. RDGI hopes to develop, seek wide endorsement and advocate for the implementation of a plan to support research, education, service development, promote awareness of rare diseases and support for affected individuals and their families. The mission of Rare Disease Ghana Initiative is to improve the wellbeing and quality of life of families affected by rare diseases. Through the Rare Disease Ghana Initiative, Ghana is in an excellent position to learn best practices from extensive international initiatives.

There are two networks under Rare Disease Ghana Initiative; Ghana Rare Family Network (representing patients and caregivers of persons living with undiagnosed, genetic and rare diseases in Ghana) and Ghana Professional Network for Rare Diseases (representing healthcare professionals and researchers interested in genetic and rare diseases in Ghana). RDGI has recorded more than 20 different rare diseases in Ghana and is currently supporting close to 50 families. RDGI is a member of the Rare Foundation Alliance of Global Genes which has a network of more than 400 rare disease organizations around the world. Rare Disease Ghana Initiative is also a member of African Alliance for Rare Diseases (AARD) which is made up of African Organizations and African Advocates promoting care and services for rare diseases. Rare Disease Ghana Initiative is also a member of the Genetic and Rare Disease Network (GRDN).

Activities of Rare Disease Ghana Initiative are targeted efforts to promote awareness of rare diseases; develop, seek wide endorsement and advocate for the implementation of a plan to support education, research, service development and increase support for affected individuals and their families.

Rare Disease Ghana Initiative has embarked on several awareness and sanitization activities within its first few years of existence. The organization has spearheaded the celebration of the Rare Disease Day event in Ghana. The first Rare Disease Day which was held in February 2018 was done in collaboration with the Infant school of Ghana International School. The celebration of Rare Disease Day was featured in RARE daily and the spring edition of Rare Revolution Magazine. For the second Rare Disease Day which was held in 2019, Rare Disease Ghana Initiative teamed up with Multikids Africa to do a face painting campaign with the students of Multikids Academy. In addition, a section of the students at Multikids joined RDGI team to share fliers and leaflets on rare diseases to shoppers at the A&C Mall.

In May 2018, RDGI also joined the global community with ME/CFS through a collaboration with ME/CFS SA to host the ‘MillionMissing’ event for the first time in Ghana. The team from RDGI did a solidarity video which was shared through Social media to show our support to the millions of people missing due to ME/CFS and other invisible illnesses. In addition, RDGI also lit up the building of Impact Hub Accra in purple to show support for people living with Invisible illnesses and chronic diseases. This event took place on 17th May, 2018.

RDGI has assisted to enroll 2 cases from Ghana on the “Beyond The Diagnosis Art Exhibit”. The focus of the Beyond Diagnosis Art Exhibit is to increase research and raise awareness of rare diseases within the medical community through art. Professional artists from all over the world donate their time and talent to paint portraits of children living with a rare disease. The portrait then becomes part of a travelling exhibit for medical schools, research institutes and hospitals.

RDGI has embarked on several online and social media campaigns and has joined the world through social media to honor the Undiagnosed Day, Dazzle4Rare and Rare Fair 2018. Rare Disease Ghana Initiative served as a media partner to RAREfest2018 hosted by Cambridge Rare Disease Network. Currently Rare Disease Ghana Initiative serves a media partner to the World Orphan Drug Congress Europe 2019 to be held in November, 2019 in Barcelona.

Rare Disease Ghana Initiative has engaged on some media campaigns. The Health and Wellness show of Starr 103.5 Fm discussed various rare diseases on their show for the entire month of March 2019. During this period clinicians, patients and advocates from Rare Disease Ghana Initiative shared their knowledge and experience with rare diseases. This helped to increase awareness of rare diseases among the general public.

On behalf of RDGI, the Executive Director was invited to give a presentation on rare diseases and the Rare Disease Ghana Initiative to the Accra Chapter of the Pediatric Society of Ghana during the March 2018 monthly meeting. This helped to increase awareness, knowledge and increase professional interest in rare diseases among the pediatricians.

Rare Disease Ghana Initiative has collaborated with the West African Genetic Medicine Center and hosted a symposium on Genomics and Rare Diseases at Korle-Bu Teaching Hospital in February 2019. This symposium presented a multi-stakeholder perspective on strategies and plans to improve care for rare diseases in Ghana. In attendance were Heads of Institutions, clinicians, researchers, nurses, students, patients with their caregivers and the general public. Also present were other advocacy organizations such as The Rheumatology Initiative (TRI), Sickle Life and Multikids Africa.

Currently Rare Disease Ghana Initiative runs an educational program which seeks to provide resources to improve knowledge and awareness of rare diseases and related issues. Rare Disease Ghana Initiative has collaborated with FYMCA Medicals Ltd, a UK based organization with the mission to develop improve rare disease education and services for those in the developing world to train medical professionals on rare diseases and related disorders. Through this training, a total of eight health professionals from Ghana have received training in MPS Disorders, Fabry & Gaucher and other metabolic disorders.

In addition, the organization runs a Diagnostics Program with the aim to provide tools and resources to enhance early diagnosis of rare diseases in Ghana. Rare Disease Ghana Initiative has received a donation of twenty whole genome sequencing tests from Illumina Inc through the iHope Program. Rare Disease Ghana Initiative is working with Rare Genomic Institute on the iHope Program. Through the RDGI diagnostics program, the organization has also supported some patients financially to undergo some laboratory and radiological investigations. The organization is currently working with Care Beyond Diagnosis to pilot an ammonia checker device to aid the diagnosis of Urea Cycle Disorders.

Rare Disease Ghana Initiative also runs a therapeutics program with the aim of providing resources and assistance for effective management and treatment of rare diseases in Ghana. This program hopes to introduce new and existing therapies which are promising to the Ghanaian community. The organization also provides resources and support to rare disease families to enable them to access these therapies. Through this program, the organization has been able to support 4 patients to undergo some surgical interventions. Rare Disease Ghana Initiative has partnered with Crowdfrica, a crowdfunding organization based in Ghana to raise funds to support these surgeries. The organization is currently working with different pharmaceutical companies to supply orphan drugs to rare disease patients through this program. This program is also exploring how rare disease patients in Ghana can benefit from use of biomedical, assistive devices and modern technologies as well as how these products can be accessed within the African market.

Rare Disease Ghana Initiative also runs a Care Coordination and empowerment program which seeks to provide additional support services to families as they navigate through the complex pluralistic health system that exists in Ghana.

Rare Disease Ghana Initiative is making attempts to launch a national registry for rare diseases in Ghana to improve data. The organization has received a donation from ClinCapture through Weidley’s Wish to support in this regard. Pathways for Rare and Orphan Studies (PROS Foundation) is providing technical support to the organization on the registry program.

Rare Diseases Ghana Initiative works in partnership with government agencies, industries, individuals and other non-governmental organizations to promote the cause of rare diseases in Ghana by ensuring that people affected by rare diseases are not left out as we strive to achieve the sustainable development goals.

In spite of these achievements, Rare Disease Ghana Initiative faces financial challenges with meeting its daily operational expenses as there is currently no direct financial support. The organization has thrived thus far though the benevolent support (mostly in products and services) we have received from individuals and institutions. We acknowledge the support of Impact Hub Accra who has provided us with office space through the Health Innovation Program (now African Health Innovation Centre); FletcheRainIdeas for supporting us with graphics works, Microsoft Inc for their non-profit donations of software to support the organization; Rare Funding Team and Equilinx for our website; Rare Revolution Magazine for publishing some of our activities; Global Genes and FindaCure for the mentorship.

We also acknowledge Prof. Ebenezer Badoe, Head of Department of Child Health and a pediatric neurologist at University of Ghana Medical School; Prof Solomon Ofori Acquah, Dean of the School of Biomedical and Allied Health Sciences, University of Ghana; Prof. C. C. Mate-Kole, Director, Center of Aging Studies, University of Ghana; Dr. Anita Ghansah, Geneticist at Noguchi Medical Research Center; Dr. Seth Wiafe, School of Public Health, Loma Linda University; Mrs. Charlotte Esi Myers, Clinical Psychologist, Lekma Hospital; Lydia Seiders, Maryland State Ambassador for Rare Action Network; Sean Gordon, Rare Funding Team; Dr. Abena Tanor, Rehabilitation Specialist at Komfo Anokye Teaching Hospital; Dr. Vincent Boima, a Nephrologist at Korle-Bu Teaching Hospital; Dr. Beatrice Wiafe Addai, Breast Cancer Specialist, Peace and Love Hospitals; Dr. Dzifa Dey, Rheumatologist at Korle-Bu Teaching Hospital; Dr. Emmanuel K. Ameyaw a Pediatric Endocrinologist at Komfo Anokye Teaching Hospital; Eleonora Passeri, communication manager, European joint program on rare diseases; Prof Christian Hendriksz and Florence Hendriksz both from Fymca Medicals for all the expert and technical advice to Rare Disease Ghana Initiative to date. Finally we acknowledge our volunteers, undiagnosed and rare families for the hard work, time, commitment and support to bring the organization this far. The journey has not been easy yet a bold step. Support our work, add your voice, make an impact and give a voice to rare disease in Ghana.

For further details, visit the website of Rare Disease Ghana Initiative at www.rarediseaseghana.org or contact us via email at [email protected]