NGF Mentor: Elaine Weiss

Elaine Weiss
Ohio
Adult with Gaucher
Email: elainehweiss@peoplepc.com

I am a 59-year-old woman of Ashkenazi Jewish descent. My husband, Marv, and I have been married for over 33 years and have no children. I received my B.S. from Ohio State University in Early Childhood Education and a minor in psychology. I've done work toward an M.S. in Reading Specialization. After working as a tutor in reading and math to underachievers and teaching English to Russian immigrants, I began my own small business. I do medical billing and bookkeeping for mental health professionals.

I was diagnosed with Gaucher Disease in 2004 at the age of 55. Presenting symptoms led to misdiagnosis. It was scary, as the erroneous prognosis was serious, and the majority of my support system lives elsewhere. Once correctly diagnosed, and after infusion treatment commenced, my debilitating symptoms dramatically improved and continue to do so. I am the oldest of three, having a sister who tested positive for Gaucher, although she remains asymptomatic. My brother and one of his sons are carriers. His other son tested negative. While I initially viewed my diagnosis as a "life sentence," I have learned to accept it and use it as a learning experience. It has brought our family closer together and has provided me with a greater sense of who I am, the advancements in Gaucher research, and how lucky I am to have been diagnosed when I was, having the benefit of the hard work of so many. I feel an obligation to educate whoever will listen and to spread the word of the importance of symptom awareness and testing.

Despite the fact I live in a large metropolitan area, there are very few Gaucher patients and no treatment center. There are a limited number of knowledgeable treating physicians, and most internists know little or nothing about Gaucher, saying they "heard it once in med school." I have attempted to educate the professionals with whom I come in contact. In 2006 the Cleveland Jewish News interviewed me during Gaucher Awareness Month about my experience. I have attended all local meetings and two national conventions. I've learned so much on these occasions and am in awe to be among the great minds in attendance. I am part of the NIH Gaucher network and was a participant at the Gaucher Summit at Amicus Therapeutics.

I am thrilled and honored to be part of this Gaucher Mentor Program.