A Cape Town toddler has been thrown a lifeline by the NPO Rare Diseases South Africa after a diagnosis – three years ago – of the uncommon, genetic Gaucher Disease, which has no cure.
In July 2020, Eden Green, who was then just two years old, was admitted to Red Cross Children’s Hospital 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’s in August 2020.
This is a rare genetic disorder that causes a build-up of fatty substances in certain organs, particularly the spleen and liver, causing these organs to enlarge, and often affecting their function. It is caused by low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside.
The solution
After diagnosis, the doctors knew exactly what type of treatment she would need and that it would be expensive. Her doctor approached the hospital board without success and her parents were turned down by their medical scheme.
Eden’s GO asked a colleague for advice and was referred to Rare Diseases SA, which has ensured Eden has received her treatment without fail for the past three years. This includes all matters surrounding her treatment, such as delivery, storage and even the consumables such as the specific filter she needs to receive her infusion.
Treatment started treatment about a month after her diagnosis. She was placed on enzyme replacement treatments, which she continues to receive today, three years later, via transfusion. Currently, there is no cure for Gaucher Disease, which means her treatment will be lifelong.
Quality of life
Eden’s growth and milestones have exceeded doctors expectations. Today she is a well-developed five-year-old child. Before diagnosis, her parents were cautious about her doing any physical activity, and she was restricted because she bruised easily and had a tender abdomen.
Her growth has been remarkable since she started treatment, with the treatment enabling her to live as happy and active a life as any other five-year-old.
Founded in 2013 by Kelly du Plessis, RDSA advocates for greater recognition, support, improved health services and a better overall quality of life for people living with rare diseases.
The organisation has carried out awareness campaigns and initiatives that have positively affected more than 1800 patients.
In 2020, RDSA absorbed Genetic Alliance South Africa into its operations and expanded its mandate to include congenital disorders.
See more from MedicalBrief archives:
98% of rare diseases estimated to go undiagnosed in SA — advocacy group
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More support needed for genetic tests to diagnose rare diseases in children