The worldwide movement on rare diseases, known as Rare Disease Day, aims to achieve equity for those living with a rare conditions. It also ensures social opportunities, healthcare, and access to diagnosis and treatments for such conditions.
Since it was founded in 2008, Rare Disease Day has been instrumental in creating a global, multi-disease, varied, and purpose-driven network for people with rare diseases.
According to the World Health Organization, an illness affecting less than 1 in 2,000 people is rare. Nonetheless, more than 300 million individuals worldwide are affected by one or more than 6,000 uncommon diseases that have been recognised.
The rarest day of the year, February 28 (or 29, in leap years), is recognised as Rare Disease Day. Rare Disease Day gives the advocacy for rare diseases a boost and a focus, allowing it to advance locally, nationally, and internationally.
Though Rare Disease Day is patient-led, anyone, including individuals, families, caregivers, healthcare professionals, researchers, clinicians, policymakers, industry representatives, and the general public, can help raise awareness and take action for this vulnerable population that needs immediate and urgent attention.
“We aim to change and improve the lives of 300 million people worldwide by sharing our colours through social media, events, illuminating buildings, monuments, and homes, sharing experiences online and with friends, calling on policymakers, and shining a light on people living with a rare disease,” said the rare disease international.
Facts about rare diseases
It primarily affects children. Children account for half of those affected by rare diseases. Getting Help: Half of the rare diseases that affect people have no foundation or research support group.
Samuel Agyei Wiafe, Founder/Executive Director of Rare Disease Ghana Initiative, said, “There is no FDA-approved treatment for 95% of rare diseases.”
Categories of rare diseases
Rare diseases are classified as follows: Allergic and Immunologic Disorders, Benign Neoplasms, Cancers, Cardiac and Vascular Conditions, Endocrine and Metabolic Disorders, Gastroenterological Conditions, Hematologic Disorders, Infectious Diseases, Musculoskeletal Conditions, Neurologic Conditions, Ophthalmologic Conditions, Pediatric Diseases, Skin and Soft Tissue Conditions, and Rheumatologic Disorders.
A rare disease affects about 3.5-5.9% of the world’s population. This equates to approximately 50 million Africans and represents a sizable community of individuals and families needing diagnostics and care. Genetic aetiology is thought to be responsible for approximately 72% of rare diseases.
“People living with a rare disease (PLWRD) and their families face comparable difficulties worldwide. The main ones include a lack of knowledge about rare diseases, a delay in diagnosis, and a challenge in getting access to the right care and treatment,” said Samuel Agyei Wiafe, Founder/Executive Director of Rare Disease Ghana Initiative. The severity and effects of social and health inequalities vary between nations and geographical areas. Clinical psychologist Samuel Wiafe says lack of public awareness, national and regional frameworks, and lack of proper research, data, and investment are some issues facing the African region. He added that limited diagnostic facilities and specialist centres are another challenge. “People are going through a lot, so we must do something to help the rare disease community. Many families with rare disease conditions experience stigma, prejudice, and social exclusion that prevents them from fully participating in society.” Esmeralda Auro-Quardow, parent of deceased rare disease victim.
According to the UN, an estimated three million Ghanaians may live with rare diseases.
Despite these challenges, concerted actions have improved the well-being and quality of life of the rare disease community across the region.
Rare Disease Ghana Initiative is the national non-profit organization leading advocacy and coordinating care for persons living with undiagnosed and rare diseases; across Africa, patient groups are emerging and increasingly collaborating with other stakeholders to forge a more equitable environment for persons living with a rare disease.
According to rare disease Ghana, for the first time in 2018, Ghana participated in Rare Disease Day. As part of the #ShowYourRare campaign, participants enthusiastically wore face paint and distributed leaflets. In Ghana, a three-day ‘Reframe Rare’ event was held to raise awareness and interest in rare diseases in honour of Rare Disease Day 2020. A school activation event and a community symposium were among the activities.
“Ghana hosted The African Summit on Rare Diseases in 2021, which aimed to promote learning and exchange on the state of rare diseases in Africa, as well as to strengthen and leverage opportunities for greater health and social equity,” said Dr Francisca Enu-Kwasi, rare disease Ghana initiative programs lead, therapeutics and clinical services.
Dr Francisca added that the Summit brought together key stakeholders such as the Rare Disease Initiative International and others to discuss the challenges and innovations shaping Africa’s rare disease landscape from a national, regional, and global perspective.
Rare disease day activities
Steps towards raising awareness for Rare Disease Day include;
Spread the word
To bridge the gap, all are encouraged to share Rare Disease Day posts on social media to motivate friends to raise awareness for rare diseases.
Thousands of events are held yearly in celebration of Rare Disease Day during February worldwide. Events on Rare Disease Day are organised by patient organisations, medical professionals, researchers, policymakers, and other stakeholders in the rare illness community. You can also visit the rare disease Ghana initiative website www.rarediseaseghana.org to volunteer.
Events in Ghana
According to Samuel Waife, Executive director for the rare disease Ghana Initiative, “This will be the sixth rare disease celebration in Ghana though it is the sixteenth celebration in the world.” Samuel Wiafe added that there is a School Activation Event which allows students from various schools to participate in tasks aimed at raising awareness of rare diseases in their schools.
Policy Event: Following the adoption of the UN Resolution for People Living with Rare Diseases, the policy event aims to raise awareness of rare diseases among Ghanaian policymakers by including people living with rare diseases in the National health insurance
Lighting Event: As part of the global lighting chain, rare disease Ghana lights up the national theatre in rare disease day colours in solidarity with Ghanaians living with rare diseases.
It is evident that Rare Disease Day, as important as it is, is not popular with many Ghanaians, Africans and others across the globe. It is, therefore, incumbent on everyone to share their story and send a message of solidarity to mark Rare Disease Day. One can also write about their experiences and share photos or videos on social media. If we work together, we can close the gap in Ghana, Africa, and beyond.
This report was produced under the DUBAWA Non-urban Journalists Mentorship project aimed at promoting a culture of truth and verification in non-urban newsrooms in Ghana with support from the US Embassy in Ghana.