February is Rare Disease Month with Rare Disease Day being observed on 28 February. In an opinion piece for Health24, Prof Shahida Moosa (Division of Molecular Biology and Human Genetics / Rare Disease Genomics in South Africa Group) calls for an increase in awareness and advocacy for better access to healthcare, testing, services, resources, support and acceptance for families with rare diseases.
- Read the article below or click here for the piece as published.
The United Nations Sustainable Development Goals (UN-SDGs) aim to achieve a world in which “no one is left behind". Among those furthest behind are people affected by Rare Diseases (RDs), as undeniably, they have been disproportionately deprived in terms of research, diagnosis and treatment, especially in Africa.
Although individually “rare", these diseases collectively affect a large proportion of the population; yet, there has been too little in terms of their prioritisation from governments and stakeholders in Africa, including South Africa. Over 72% of rare diseases are genetic in origin, collectively estimated to affect up to four million South Africans. Most of these conditions, also called “orphan diseases", have their onset in childhood (often recognised at birth), continue for life, and are chronic and disabling. Much focus is put on the considerable health burden posed by these conditions; yet, additional burdens including stigma and alienation from the community, lack of access to resources, and lack of accurate diagnoses remain foremost in the day-to-day experiences of affected families. In South Africa, the majority of RD families, numbering in the hundreds of thousands, remain undiagnosed due to lack of access to the genomic technology needed to provide a definitive diagnosis. Our RD population is thus understudied and under-represented globally.
This is one of the reasons why our Rare Disease Genomics in South Africa research group, based at Stellenbosch University's Faculty of Medicine and Health Sciences and Tygerberg Hospital, hosts a social media campaign every February to enhance awareness of RDs. February was chosen as Rare Disease Month, due to it having a “rare" number of days. Activities during February culminate in the international celebration of Rare Disease Day on the last day of the month. For our 2022 Rare Diseases in South Africa Awareness initiative (#28DaysOfRare campaign), we interviewed families affected by RDs to explore what their daily challenges are, what their unmet needs are, what impact a diagnosis through our Undiagnosed Disease Programme has had, and what messages they wanted to share with other families, their communities and government.
The campaign has provided these families with a voice beyond the confines of the genetic clinic. It was important to include patient voices from a state-run facility like Tygerberg Hospital, as they are traditionally not the ones represented when RDs are discussed in the South African media. Families with RDs live in Sandton and Constantia, but they also live in Khayelitsha, Soweto and Delft. This campaign has allowed us all to get a more accurate picture of what life is like for them. We have realised throughout the campaign that they face numerous challenges. These include, among others, getting help for their complex constellation of symptoms, accessing appropriate and timely testing, accessing therapies and proper management, gaining access to resources needed outside the hospital setting, finding appropriate schooling, accessing local support groups and dealing with issues around stigma and acceptance in the extended family and community.
One of our research studies is the Undiagnosed Disease Programme, the first programme of its kind in sub-Saharan Africa. The aim of the programme is to use the latest genomic sequencing technology to provide families with RDs with a definitive diagnosis. The impact of the diagnosis, especially for those families who have been on their “diagnostic odyssey" for many years, has come with feelings of relief and eased long-standing feelings of guilt. Having an answer for why their child is different to other children has facilitated acceptance. For some, we have been able to change their medication based on their genetic test result and improve their quality of life. For all, the information came with more accurate recurrence risks and prognoses. From the responses of these families, it became clear that the diagnosis has had a physical and emotional impact beyond what could have been expected.
“The community told me my child is like this because of the tight jeans I wore during pregnancy. I believed them and felt very guilty until I was told that this is a genetic condition. It was not my fault", said Okwenam's* mother.
“We live in a shack. When it rains, the rain comes in. When the wind blows, it comes in. This affects my child's breathing. We have such big rats which are eating the grownups, imagine how they bite the small ones", said Anothando's mother. The need for improved housing for their children with RDs, also affectionately called #RareWarriors, was something voiced by many mothers interviewed. Having a diagnosis and being able to anticipate future needs for little Anothando, has meant that the family will receive one of the first units in the new housing project for people with special needs. For her mother, this “is a dream come true!"
For other families, their struggle to find appropriate schooling for their children, despite having a diagnosis, continues. Felicia, the only girl currently diagnosed with her condition in Africa, is six years old but not yet toilet-trained; MJ has a rare form of genetic epilepsy, which is associated with hyperactivity and behavioural issues; and Iviwe is profoundly intellectually disabled needing constant supervision. Not having access to a school means that these children need to be cared for at home, requiring one or both their parents to give up jobs and educational opportunities. “The challenges? There have been millions!" said Felicia's father.
If this is the case for families who already have a diagnosis, we cannot begin to estimate the impact of being undiagnosed. One of the reasons that genomic technology is not more widely accessible in South Africa, is that there is a basic lack of support from all stakeholders necessary to roll out genomics and genomic testing. Rare diseases in other parts of the world are receiving much more attention, funding and support. We see stakeholder buy-in even in other low- and middle-income countries like Brazil and India. Unfortunately, change has been very slow in sub-Saharan Africa, despite the UN General Assembly's recent adoption of a resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families".
Patients with RDs in South Africa are low priority because government cannot quantify the burden of RDs accurately – we do not have nationwide registries, there is no access to necessary testing across the country, seven of the nine provinces do not have Genetic Services, there is a lack of trained personnel (clinical, laboratory and bioinformatics), and a lack of funded posts to train and retain skilled personnel, to name only a few. While we can more accurately quantify the number of patients admitted to hospital with COVID-19, HIV or TB, the footprint of RDs is less visible.
South Africa cannot decrease infant and under-5 mortality rates, nor can we achieve the SDGs without focussing more on RDs – specifically SDG 3 (improving health outcomes), SDG 10 (reduced inequalities) and SDG 17 (increased partnerships across stakeholders) are impossible without taking RDs into account.
The #28DaysOfRare campaign is one step of many to increase awareness and advocacy for better access to healthcare, testing, services, resources, support and acceptance for families with RDs, to increase adoption of policies to benefit them and to enlarge the footprint of RDs in South Africa.
*The names of children used in this article are real. Stellenbosch University's Health Research Ethics Committee (HREC ref N21/09/098) approved this initiative and the parents signed informed consent to use videos, pictures and names.
*Prof Shahida Moosa is a Senior Specialist in Medical Genetics at Tygerberg Hospital and Associate Professor of Medical Genetics in the Division of Molecular Biology and Human Genetics at Stellenbosch University. She directs the research programme on Rare Disease Genomics in South Africa.