Non-governmental organisation Rare Diseases South Africa says the biggest challenge in South-Africa is accessing expensive drugs to treat and manage rare conditions. For a disease to be rare, it has to affect less than one in every 2 000 people.
The country is also lagging behind in diagnosing such diseases. The organisation was founded to give support to sufferers and their parents.
Kelly du Plessis, whose eight-year-old son Juan has Pompe disease, was told by doctors to make his first birthday extra special, saying he wouldn’t celebrate a second. He was diagnosed with Pompe when he was 11 months old, for which there is no cure.
He lacks an enzyme which breaks down glucose. This sugar, builds up in his muscles, and causes weakness, heart problems and breathing difficulties.
Like any other mother she expected to give birth to a healthy child. While it was intense when he was young, Kelly du Plessis with more knowledge and understanding things has improved.
“We have on average 24 doctors appointments scheduled per year. In the form of cardiology, endocrinology, neurology etc… We have lots of blood tests and scans. But most importantly is the Enzyme replacement therapy which is basically his life saving drug. And he gets that every second week.”
With the country lagging behind in diagnosing rare diseases, there are only eight Pompe diagnosed patients in South Africa. For families and patients it can be a lonely road. Juan’s mother, established Rare Diseases South Africa, to reach out.
Du Plessis says, “In terms of patient advocacy we obviously are able to give patients an idea of how to navigate the system and how to access treatment that they weren’t really able to access before. One of the major challenges in South Africa is accessing high priced drugs which are generally treatment for this rare conditions. And i think in terms of support as well we connect patients with one another, we put them in touch with families sharing similar challenges.”
Juan du Plessis looks like any other normal child and has big dreams for the future.
Rare Diseases South Africa has over a-thousand registered patients, with 613 different rare diseases. Patients and their families have formed 228 support groups.