Overcoming the odds: Dealing with rare diseases

Stares 거만어 다운로드. Whispers. Insulting comments. How would you feel if this was part of your everyday life? You’d probably feel miserable and angry, right? This is exactly what Lizzie Velasquez has been dealing with her entire life

She has a rare disease that doesn’t allow her to gain weight, no matter what she eats. But, she didn’t let the constant hurtful responses affect her.

She spoke at TEDx event where she explained the power of happiness and how you can achieve your goals, regardless of the obstacles you face in life.

The Rare Diseases Society of South Africa (RDSSA) is dedicated to helping people like Lizzie, to live a better life. Hello Doctor spoke to its founder, Kelly du Plessis, about their achievements and plans for the future to bring the reality of rare diseases into the public eye.

HD : First of all, congratulations on founding the Rare Disease Society of SA. Since its launch, what would you say are its biggest achievements, and how do you feel about the awareness of rare diseases in South Africa?

K : “To date, I think our biggest achievement is getting the health sector to recognise our work to advocate for patients in need. Rare disease awareness, globally, always needs to be encouraged as it affects about 7% of the population. I strongly believe that in SA, we have a major problem in terms of access to correct information and therefore public awareness is critical.”

HD : Seven percent?! That is 3,4million South Africans! Even if only 5% of them are treatable, do medical schemes cover palliative care?

K: “You know, it’s difficult, because palliative care is another area of healthcare that is currently abandoned and receiving little attention. Even though medical aids acknowledge the need for advanced palliative care, patients often have to fight for it. It’s really a battle to get quality healthcare and pain medication long-term. This is tragic, but that is exactly why I’m so passionate! I will never give up!”

HD : Surely medical aid schemes need to take rare disease treatment into account and offer options that will cover expenses?

K: “Generally, rare diseases are expensive to treat, so funders are reluctant to pay for these. It becomes very difficult to afford in the long run.”

HD : I can understand your drive to raise RD awareness because you have experienced it personally. Your son, Juan suffers from Pompe disease. Would you mind giving a brief explanation of the disease; the struggles you have faced and how he is coping at present?

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K : “Pompe disease is a muscle disorder which happens because of an enzyme insufficiency. It results in a build-up of a complex sugar in the cells, which affect the heart and other muscles, so they don’t work properly.
Since Juan has been receiving Enzyme Replacement Therapy (ERT), his quality of life has improved, as well as his energy levels, general abilities and doesn’t need to attend a specialised school.”

HD : It’s clearly a difficult situation, but what do you feel needs to be done to convince medical schemes to offer rare disease coverage, regardless of social economic status?

K : “I honestly think that government, medical aids, healthcare funders as well as industry partners need to develop rare disease policies that are reasonable, so they can attract funding. This can ensure that these suffering patients have an opportunity to get the right treatment.”

HD : What initiatives/awareness campaigns does the RDSSA have planned for the rest of 2015? It seems we have to break the status-quo and convince medical-aid companies to realise that many people require rare disease coverage.

KD: “We are currently defending an application in the high court, in Cape Town. A small medical aid is challenging the Department of Health over the prescribed costs in the claim. This case is critical to us and all RD patients, and we are fighting hard. “

HD : The work your NPO has been doing is incredible! But, I think we can agree that it will be a long-standing battle. Do you believe your NPO will be able to influence medical schemes and fight for the necessary funding to cover the rising medication costs?

K : “Yes I do, we have already come a long way in getting life-saving treatment through medical aids, and we will continue to do so.”