Cyndi is a type 1 Gaucher patient. She was diagnosed in the mid 70s as an early teen, decades before treatment became available. Under the guidance of Dr. Roscoe Brady at the National Institutes of Health, Cyndi learned of early research for treatment and had hope that she would live a long, healthy life, contrary to what she was told when she was diagnosed. Cyndi’s enormous spleen caused extreme fatigue and heavy bleeding, and her weak bones prevented her from doing all her friends did, but miracles do happen and when Cyndi was 28 years old, she got her first dose of treatment in the early alglucerase (Ceredase) trials.
Treatment changed Cyndi’s life. She went from being mostly bed bound to working full time, getting married, and giving back in so many ways. After the trial where she first received treatment, Cyndi went on to participate in many other drugs trials, including Fosamax, chaperone therapy, Cerdelga, N-Acetyl Cysteine (NAC), and others. She also worked for the National Gaucher Foundation for over a decade and co-founded and is currently co-president of the Gaucher Community Alliance. Her passion for helping others with Gaucher stems from the difficulties she had in her life before treatment, and she works toward a time when there is treatment for both type 1 non-neuronopathic and types 2 and 3 neuronopathic Gaucher disease.
