By Eclipse Communications
Two-year-old Eden Green was admitted to Red Cross Children’s Hospital in July 2020 with an enlarged liver and spleen. After multiple tests, her blood samples were sent for testing at laboratories in the United States and Libya and she was diagnosed with Gaucher Disease at the end of August 2020.
Gaucher disease is a rare genetic disorder that causes a buildup of fatty substances in certain organs, particularly the spleen and liver, causing the organs to enlarge which affects their function.
Eden started her treatment a month after her diagnosis. She was placed on enzyme replacement treatments, which she continues to receive today via transfusion. Currently, there is no cure for Gaucher Disease, which means her treatment will be life-long.
The doctors knew exactly what type of treatment Eden would need and that it would be expensive. They approached the hospital board without success and her parents were turned down by their medical scheme.
Eden’s general practitioner (GP) was referred to Rare Diseases South Africa (RDSA) who have ensured that Eden has received her treatment without fail for the past three years, including matters of delivery, storage and even the 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, her 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’s milestones have exceeded doctor’s expectations. Her growth has improved remarkably and she is now considerably “tall” for her age. The treatment has enabled her to live as a happy, active and well-developed five-year-old child.
The greatest advice Eden’s parents have for patients of rare diseases is to be relentless in their search for information. Finding an organisation such as RDSA helps guide families and patients through a confusing and tumultuous time. Through RDSA, Eden’s parents have met other patients 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 eventful life.
About Rare Diseases South Africa
Rare Diseases South Africa is a registered non-profit organisation (NPO 120-991) advocating for a better tomorrow for the #1in15 South Africans impacted by rare diseases and congenital disorders, including greater recognition, support, improved health service and better overall quality of life. For more information visit https://www.rarediseases.co.za/