Two-year-old Eden Green was admitted to Red Cross Children’s Hospital in July 2020, where she was found to have an enlarged liver and spleen. After multiple tests and no clear cause, her blood samples were sent for testing in the United States and Libya. A month later, at the end of August 2020, she was diagnosed with Gaucher Disease.
What is Gaucher Disease?
Gaucher Disease (pronounced GO-Shay) is a rare genetic disorder that causes a build-up of fatty substances in specific organs of the body, particularly the spleen and liver, causing the organs to enlarge, ultimately affecting their function.
Eden’s journey
With this diagnosis, the doctors knew exactly what type of treatment Eden needed, but they also knew it was incredibly expensive. They approached the hospital board to get funding, with no success and her parents were turned down when they asked for help from their medical scheme.
Thankfully, Eden’s general practitioner (GP) was referred to Rare Diseases South Africa (RDSA), who ensured that Eden was able to start her treatment a month after her diagnosis, after engagement and collaboration with multiple stakeholders. She was placed on enzyme replacement treatments, which she continues to receive today via regular infusions. Currently, there is no cure for Gaucher Disease, which means her treatment will be lifelong.
Rare Diseases South Africa (RDSA) has ensured that Eden has received her treatment without fail for the past three years, including handling issues of delivery, storage and even the provision of consumables such as the specific filter Eden needs to receive her infusion.
RDSA is a non-profit organisation founded by Kelly du Plessis in 2013 that advocates for greater recognition, support, improved health services and a better overall quality of life for people living with rare diseases.
“It’s challenging enough being diagnosed with a disease, more so, a rare disease, and that is why we are here. To give the necessary support and information in a time that is stressful and sometimes frightening,” says du Plessis.
Before her diagnosis, Eden’s parents were cautious about her doing any physical activity or the things toddlers typically do. She was restricted because she bruised easily and had a tender abdomen. Since she commenced treatment, Eden has exceeded her doctor’s expectations in achieving her milestones. Her growth has improved remarkably, and she is now considered tall for her age! The treatment means she lives a happy and active life as a well-developed five-year-old.
Advice for other parents
The advice Eden’s parents have for people living with rare diseases is to be relentless in their search for information. Finding an organisation such as RDSA helps guide families and impacted individuals through what can be a confusing and tumultuous time. Through RDSA, Eden’s parents have met other people living with Gaucher Disease who are finishing school and have careers and families, giving them the peace of mind that Eden, too, can live a long and happy life.
About RDSA
Rare Diseases South Africa is a registered non-profit organisation (NPO 120-991) advocating for a better tomorrow for the #1 in 15 South Africans impacted by rare diseases and congenital disorders. This includes achieving greater recognition, support, improved health services and better overall quality of life for each and every impacted individual. For more information, visit https://www.rarediseases.co.za/