Challenges on rare diseases in Lesotho

LINEO MALATALIANA

MASERU – A rare disease is categorised as one that affects one in 2000 people, but in Lesotho this is seen in 1 : 1000 people. According to Rare Diseases Day, 300 million people in the world live with some form of a rare disease. This translates into 3.5 – 5.9 percent of the population and 72 percent of these rare ailments are genetic.

“Over 6,000 rare diseases are characterised by a wide range of conditions and symptoms that can vary not only between diseases but also among individuals with the same condition,” according to Rare Diseases Day.

In Lesotho, people living with rare diseases face a challenging journey. The uncommon nature of these diseases makes it difficult for doctors to diagnose, and this is most likely to delay treatment coupled with the fact that some medications are unavailable or unaffordable.

To date the country seems to have one determined organisation advocating for people living with rare conditions.

The Rare Diseases Lesotho Association (RDLA).

RDLA is a non- profit organisation founded by Nthabeleng Ramoeli and formally registered in October 2020. Ramoeli drew inspiration to the association from her own person journey with Ehlers-Danlos syndrome (EDS).

“The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes that affect connective tissue,” according to the Ehlers-Danlos Society.

The condition is unpredictable as each variant has different characteristics with distinct diagnostic criteria. However, there are features that are evident across the board; hypermobility, skin hyperextensibility and tissue fragility.

The condition is also characterised by debilitating pain caused by dislocations from the onset. According to the American Journal of medical genetics, around 90 percent of suffers manage some sort of chronic pain.

RDLA Fumane Lintle Malebo, the Secretary General of the association opined that living with a rare disease is a struggle for most sufferers. Emphasising that the cost of living with a rare condition can be beyond one’s means at times.

“We have had to hold fundraisers to be able to fund medication because some are extremely expensive and sometimes unavailable. At one point we got help from a local business to buy spinal brace for one of our clients,” Malebo said.

The organisation has been getting help from stakeholders and ordinary people to be able to carry out their mission. To them walking the journey with their clients from the very beginning in the challenging stages of diagnosis.

“Sometimes we have to fight with doctors to diagnose a patient who needs to get on treatment. However, we work well with our specialists,” Malebo said.

 Malebo also indicated that as an organisation, majority of the diseases they see are Lupus, a chronic autoimmune disease and a blood condition Haemophilia, with a rise in cases of EDS.

Along with the many challenges people living with these conditions have to battle of stigma caused by a lack of insight on rare diseases. In December 2019, the United Nations adopted a resolution focused on addressing the challenges of persons living with a rare disease and their families. This resolution is one that organisations like RDLA abide by in their advocacy.