We are glad to introduce our #RARETalk guest Kelly du Plessis a #RAREvolutionary mother and an advocate for rare diseases. Kelly is the founder and CEO of Rare Diseases South Africa (RDSA) and the Director of the RAREX Conference. Read the following interview to find out more about her amazing experience.
1) Welcome on the RE(ACT) Community Kelly. Can you introduce yourself to our readers and tell them what you are doing for the rare disease community in South Africa?
Rare Diseases SA was started from personal need after my son, Juan, was diagnosed with Pompe disease in 2010. At the time there was no rare disease specific support groups available in SA, and I really felt I needed to connect with other families. We have no idea RDSA would grow to the size it is today in such a short space of time. We have gone from being a simple support groups to a fully-fledged patient advocacy group.
2) Which are the main challenges for rare disease patients in South Africa? Is Africa developing research on rare diseases?
Awareness is critical in South Africa, coupled with lack of diagnostic services, so many patients remain undiagnosed. There are some research projects being done specifically to the human genome in Africa which is very interesting as so many of our genetic mutations are novel to this area. But, you can never have enough research so there is always room for more!
3) The RE(ACT) Community encourages researchers to circulate scientific info and patients to share their personal health experience. What do you think about the importance of sharing knowledge to push research forward?
Sharing of knowledge is critical to advance treatments and therapies. If you don’t share knowledge, time and resources are wasted trying to determine what someone else already knows. The one things about Rare Diseases is the lack of patients to perform clinical trials, so again, sharing of knowledge becomes critical.
4) In which way can digital media help you and other #RAREvolutionary parents to push research forward?
Digital media is critical to raise awareness. Research only happens when the need for it is made aware. We need to connect with those interested in research and digital media provides the perfect platform to do this as its personal and informative.
5) You are in the process of organizing the next RAREX 2016 the first conference on rare diseases to be held on the African continent. Can you tell us more about it and explain how it can be an opportunity for Africa to get involved in the rare disease development?
We won the bid to host ICORD for 2016, and when this happened, it made sense to expand the meeting to include local discussion on issues faced in Africa in terms of Rare Diseases. Taken place in the beautiful Cape Town between 19-22 October, there is a focus on having researchers, healthcare professionals, funders, industry partner, policy makers as well as patients and support groups in the same room. This is not a format currently practices in Africa, but we know already that collaboration and team work is needed to push rare diseases forward so for us, it seemed like the best way to start engagement. We plan to draft a consensus document at this meeting signed by all present which will then go onto form the foundation ground for policy improvement in Africa.
6) Do you think it will be possible in the future to include assistance for rare disease patients in health-care aid for low and middle-income countries?
One of the biggest challenges in Africa is the fact that our healthcare budget is needed to treat diseases such as HIV/AIDS, TB and Malaria. So besides the general health issues we have major needs to treat those affected. This makes it particularly hard for Rare Disease patients to receive the necessary support but we are hoping our policy development assists with these needs.
7) Can you share with us three things you have learned from your personal and professional experience that can help researchers and patients?
1.The need for collaboration. We can’t make big change alone, we all need to stand together and word towards a common goal.
2. We need to ensure that red tape is minimised and make access as easy as possible from a bureaucratic point of view. Finding a treatment is hard enough, the red-tape is unnecessary.
3. Patients need a place to connect with others going through the same thing. This is critical to them coping.