According to a story from the Australian Jewish News, a Jewish teen named Gidon Goodman was born with Gaucher disease. Recently, he started the first Gaucher disease patient support group in the country. The organization is known as the Gaucher Association of Australia and New Zealand (GAANZ). The group will allow patients to connect with each other, access support services and vital info, and share their experiences with each other.
About Gaucher Disease
Gaucher disease is a genetic disorder which is most characterized by the accumulation of glucocerebroside in certain cells and organs. This disease has been linked to mutations in the GBA gene. The different types of Gaucher disease are classified by which mutations are present. Symptoms of this disorder include discolored skin, enlarged spleen and liver, low blood cell counts, osteoporosis, and cirrhosis. Neurological symptoms, which vary depending on the disease type and do not always appear, include convulsions, intellectual disability, and myoclonus. Gaucher disease is more common among the Ashkenazi Jewish community. The rate of carriers in this community is estimated to be one in 15. The most common treatment for the disorder is enzyme replacement therapy. To learn more about Gaucher disease, click here.
Gidon’s Work
Gidon helped get the support group off the ground with the help of his mother, Karen. Like most patients, Gidon must receive chronic enzyme replacement therapy to manage the illness; he had been receiving treatment since he was just nine months old. His experience as a patient himself was what motivated him to start GAANZ.
“Just being able to speak to other people with the disease, and receive guidance from them, can be so helpful and reassuring” – Gidon
Gidon has been active as a health care advocate in the past. For example, last year Gidon organized a successful petition to reduce hospital parking fees for patients who must make chronic visits for treatment. The petition gained more than 70,000 signatures.
He is also currently responsible for another petition on Change.org which is calling for the Australian government to bolster and improve its newborn screening program for rare diseases; this petition has 31,000 signatures so far. The work of advocates and rare patients like Gidon is incredibly valuable to the rare disease community.
Check out the Facebook page for GAANZ here.
