The following report on the recent RareX Conference held in Johannesburg, South Africa, was written by Busi Nkosi, Director of Advocacy for the International Children’s Palliative Care Network (ICPCN).
- There are over 7000 diseases considered rare
- Over 350 million people are affected with a rare disease
- Rare diseases are responsible for 35% of deaths in the first year of life
- Over 95% of rare diseases do not have 1 single FDA approved drug
- One in seven South Africans are affected by a rare disease
Rare Diseases South Africa held their bi-annual conference from 13 – 16 September 2018 in Johannesburg. It was a very practical conference with quite a number of patients and parents of children with rare diseases in attendance. This enabled patients and parents to relate their experiences of living with the conditions and what they expect from health professionals. Rare Diseases SA provides support and a network to rare disease patients in South Africa.
The conference was opened by Dr Nonhlanhla Dlamini who is the Chief Director of Child and Youth Health at the National Health Department. She explained how the South African Department of Health will implement the National Health Insurance to achieve Universal Health Coverage. She was followed by a parent of children with rare diseases who related a profound story of a journey with his daughter, how he eventually lost her and later lost his wife a month ago due to suicide. The message from him was that they need friends to visit families of children with rare diseases as they feel lonely, dejected and isolated.
Well planned programme
The programme was well planned, integrating the science of genetics, research in the field of genetic conditions, screening, available treatment and what is in the pipeline in South Africa and other countries. It was interesting to learn about the work that is being done by different organisations in support of children with rare conditions. The South African Department of Health was in attendance on the first three days, presenting what it is doing in the field of genetics, e.g. the policy that is in the process of being developed, epidemiology and surveillance.
The most touching sessions were those of parents of patients relating the difficult journeys they have travelled in search of what was wrong with their children, and finding that there was no treatment for the conditions or the treatment was beyond their financial means. It might take up to 7 years before a rare disease is diagnosed and when finally diagnosed, treatment might not be available.
The conference aimed to come up with some solutions to the current challenges. Some of the solutions were:
- Using a multidisciplinary approach by health professionals
- How to access genetic counselling, where are services found
- Engagement of the public health sector in recognising and treating rare conditions
- Data collection and keeping patient registries for the different diseases
- Provision of information on available therapies in South Africa and other countries
- Workshop on advocacy for patients
- Finally a way forward was plotted on the last day of the conference
The take home message for me from this conference was the following that came from Mrs Kelly du Plessis who is the mother of a child with Pompe disease:
What patients want?
- Understand that patients have access to information, respect their feelings on a subject.
- Speak their language – WE are the ultimate decision makers
- Take your time – don’t rush
- Do your homework
- Give options
- Personalise healthcare
- Pass us along
- Don’t leave us with your receptionist