Home Health Patient advocate says Rare Disease Day is not a one-day concern

Patient advocate says Rare Disease Day is not a one-day concern

by Tania Griffin
A poster of world rare disease day

Kelly du Plessis is a dynamic and determined individual. When, some 14 years ago, her son was diagnosed with a rare disease, they both faced a wall of ignorance, apathy and resignation – and so she decided to form Rare Diseases South Africa.

The goals of this organisation are to campaign for visible and formal recognition of people with a rare disease, provide advocacy for their rights within the medical care sphere, and work unfailingly to improve the lives and lifestyles of those with rare disease. As a result, Du Plessis and Rare Diseases South Africa have partnered with Novartis South Africa to advance support for patients with rare diseases.

The first step: We exist

Du Plessis recognises that the initial stage of her struggle came from understanding that, owing to a lack of awareness, the public won’t support an issue they don’t know exists. Rare Disease Day, designated to heighten awareness of rare disease, is officially at the end of February, but Du Plessis wants to spotlight this issue throughout the year. It troubles her deeply that rare diseases are perceived as isolated, unknown phenomena, as the reality is that an estimated one in 15 people in South Africa is living with a rare condition.

The theme of the campaign in South Africa this year is, “Share Your Colours”, and different groupings such as schools and corporates are being encouraged to wear colourful clothing. A ribbon costing R10 can be purchased to increase awareness and contribute toward the rare disease cause.

School lesson planners have been created, which will allow teachers to explain these concepts to their pupils. “Then, also, as patients, we have a daily Instagram challenge where you share different insights to your journey. So, it’s a preset; there’s a theme a day,” Du Plessis enthuses. 

Adding muscle to the campaign is a team of athletically inclined “Rare Activists”, who will, in Du Plessis’ words, “use their mobility to benefit others”. A specifically created 29-day ‘movement challenge’ will see these able-bodied allies cycling, running, swimming and hiking in the interests of raising public awareness.
  
Du Plessis explains that there are numerous ways in which other South Africans could participate in Rare Disease Day. Even the most inactive person can contribute, simply by talking about rare disease to family, friends and colleagues.

“It’s about people having more empathy for patients with rare diseases, understanding what their journey looks like – what they go through, getting to grips with what the medical requirements are.”

A chain of considerations

Unfortunately, many rare diseases, which are largely genetic in nature, are not yet curable and treatments often focus on managing symptoms. For best treatment outcomes, it’s crucial that people receive correct diagnoses and interventions as soon as possible, but as many rare diseases are not known to doctors, incorrect diagnoses are not uncommon.

In such cases, patients could not only be given incorrect medications, but there would be a delay in getting appropriate treatment. This introduces the challenge of educating medical personnel – another task that Rare Diseases South Africa has taken on board.

Du Plessis understands that premium treatment may not be affordable or even available at first, but this does not mean the patient should be entirely abandoned: “There’s always something you can do to improve someone’s quality of life, even if that means giving them a more comfortable pillow because they’re lying down all day. So, we have to move away from this notion that they’re too complicated to help.”
 
To further promote access to meaningful diagnosis and treatment, Rare Diseases South Africa has implemented an outreach scheme called the Labanzi Project, which aims to raising awareness and drive diagnoses in rural communities.

From strength to strength

Over the past decade, Rare Diseases South Africa has seen many achievements and become a respected voice of advocacy. “An NPO [non-profit organisation] that has survived for over a decade is an achievement in itself,” adds Du Plessis. “However, certainly our role in Rare Disease Day, the Rare Registry and RareX are all achievements that we are proud of.”

She acknowledges, however, that it wouldn’t have all been possible without assistance from other significant players: “Novartis, for example, has been a key partner to numerous initiatives over the years, including contributing toward the design and rollout of our Rare Registry, which we hope to launch this year.”

She is happy to note that, in addition to its logistical and administrative role, the registry will give people with rare disease the emotional reassurance that they are being recognised and counted.

Du Plessis takes great satisfaction in the knowledge that her organisation gives hope, help and joy to people who would otherwise have found themselves trapped in discomfort and despair. “Rare Diseases South Africa will always continue to drive advocacy and engagement, help patients navigate their journeys, and assist with research.”

Image credit: Freepik

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