Meet the Mentors

Rosalie Borovetz

My daughter, Betsy was diagnosed with Gaucher Disease in 1982, at the age of three. At that time, there was no treatment available, and we were told to take her home and treat her like a "normal kid". This was not such easy advice to follow! I also have a son, who is almost 2 years older than Betsy and is also a carrier.

I attended The Pennsylvania State University, and earned a B. A. in Social Welfare in 1969. While at Penn State, I met my husband, who is an accountant. He has always been my anchor and we have shared the challenge of living with chronic disease and providing a supportive home for our family.

In 1984, I began graduate school at Temple University, and earned my Master's in Social Work two years later. I have been working full time ever since, and have almost 24 years of experience in both medical settings and geriatric social work. For the past four years, I have been working at Independence Blue Cross in Philadelphia as a social worker in the case management department. It has given me a totally different perspective of managed care, and an understanding of how to navigate through the health care system.

When Betsy was diagnosed, we had never heard of Gaucher Disease. I recall feeling very isolated, alone, angry and scared. I started writing to Rubin Bakin, who sent long, single spaced, typed letters that were supportive and helpful. Rubin died about six months after we started corresponding. He was truly a lifesaver for me. I hope that as a mentor, I can begin to repay a long overdue debt of caring and concern for others as they cope with Gaucher Disease.

Carol Fink

I was born in suburban Cleveland, Ohio 64 yrs ago, spent a childhood marked by being small, weak, often at home with infections, then needing a blood transfusion and tonsillectomy at age 13.

That necessitated my being referred to a hematologist and after much blood work, which I hated, no conclusions were drawn. The next few years, I needed Vitamin K and IV blood clotting medication, prior to having some teeth pulled.

I graduated from Boston University with a nursing degree and was probably drawn to medicine as I had much personal experience. I moved to S.F. in 1965 and became a family therapy RN, as I realized that family support was crucial to healing. In 1969 I joined San Francisco General Hospital, where I spent 27 fascinating and challenging years helping patients and families navigate the world of Critical Care. I helped families make decisions about end of life care, organ donation and assisted with grief support, especially with those who suffered serious and fatal burns.

In the mid 70s I was finally diagnosed, with Gaucher Disease, after having some blood work for wisdom tooth extractions. The hematologist called; obviously surprised at his findings relative to a bone marrow test I was given. He asked about my, Jewish ancestry and history and began to piece together the puzzle that had alluded diagnosis. Both of m y parents were of Ashkenazi Jewish descent and I displayed many symptoms of Gaucher Disease.

After diagnosis, my guilt-ridden mother found a small article written by Rubin Bakin, founder of the NGF and Gaucher Community News and he and I became fast phone friends. An ad in, I believe, Hadassah magazine led me to him, and a world of support and reassurance.

In 1980, after feeling weak, anemic, tired, I developed gallstones, and was urged to have both my spleen and gall bladder removed together. Amazingly, I felt much better with the anemia and platelets now under control. However, an orthopedist’s friend had treated Gaucher Disease patients in Montreal and had me speak with Dr. Henry Mankin, who felt I should start on the newly approved drug, Ceredase. I had X-rays of hips that were fine, but one morning developed dull pain in my hips, so I had an MRI which showed Gaucher Disease in both hips. The next day, about 17 years ago, I day, I began therapy with Ceradase, and within 4 treatments, I felt more energized, less chronically ill and had no hip pain.

I continued my busy career, with less sick time and was able to resume my previous duties as a nurse. However, in 1997 fatigue recurred and I retired to the heavenly Napa Valley of California. Soon I was diagnosed with pleural TB. Medication worked and I enjoyed life until 2000 when I was diagnosed with Non-Hodgkin’s Lymphoma. Dr.Robin Ely helped me tremendously, to cope with chemo and immunity-building and thanks to Genentech and chemotherapy; I have been cancer-free since 2001.

For my 60th birthday I had an acute heart problem, and needed 5 stints placed in coronary vessels, which worked very well. Heart disease and asthma have been much more of a problem, as enzyme therapy has maintained my Gauchers so well. My trauma work, and my own scary health issues, have left me treasuring each day and little things like walks with my dog, lunch with friends or talking with on old friend. I so look forward to being available, thru the Gaucher Mentor Program, so that I can help make the challenge of a Gaucher diagnosis less frightening and unknown and hopefully, give back a bit of what I have received through support and education, from the National Gaucher Foundation and Genzyme Therapeutics support staff.

Cyndi Frank

I have been the Director of Development of the National Gaucher Foundation since 2005. I have 18 years of fundraising and event planning experience in the non-profit sector and has helped to raise millions of dollars for many non-profits including The Sierra Club Foundation, Sierra Club, San Francisco Food Bank, Jewish Community Center of San Francisco and Sports4Kids.

I received a Bachelor of Arts degree in English from San Diego State University with an emphasis in Creative Writing and a Certification to teach English as a Second Language in Applied Linguistics. After several years of writing, editing and teaching English, Cyndi stumbled across a job in the non-profit sector and realized that this would be the career path to move forward with. I learned that although program is the backbone to all non-profit organizations, funding makes them a reality and I wanted to raise the funds that would make the programs happen.

I am an Adult with Gaucher; diagnosed in 1976 at age 13 before treatment was available. Part of my passion for helping various causes stems from my personal experience with having Gaucher disease. Diagnosed at age 13 in 1976, I have had many of the symptoms common to Gaucher patients: low red blood counts, easy bruising, excessive bleeding, enlarged abdomen, low energy and bone pain. Gaucher symptoms and countless hospital visits kept me from being able to work throughout my 20s until I started receiving Enzyme Replacement Therapy in the early 199s.

Without a specialist in my home town on Long Island, I first visited the National Institutes of Health the year after I was diagnosed where I continued to visit at least once a year for tests and research until treatment became available. At 25 I had one of the first success partial splenectomies, which drastically changed the quality of my life.

I took part in the NIH low dose Ceredase protocol from 1990 - 1992 and for the first time met other people affected with Gaucher disease. I realized then that there was so much more I could be doing for Gaucher disease, although it took me years to find the appropriate venue. Since I've been receiving ERT, my quality of life has drastically improved to the point that I have a normal and healthy lifestyle.

Five years ago when I turned 40, I experienced a string of illnesses for over a year, both directly and indirectly related to Gaucher disease. When one of the illnesses nearly took my life, I realized that it was time to get more active within the Gaucher community. I was fortunate enough to make the acquaintance of the wonderful family at the National Gaucher Foundation and join the team as the Director of Development. My goal is to help find alternative treatments and a cure for Gaucher Types I, II and III. When I no longer need infusions every other week, I plan to live on a tropical island.

I was diagnosed with Gaucher disease when I was 13 years old. Before treatment was available, I suffered from many of the symptoms typical to Gaucher Disease that affected my every day living. Because having Gaucher disease impacted both my physical and emotional selves, I decided I wanted to work within the Gaucher community so that I can continue to learn and grow from my disease while having the opportunity to help others who suffer from the same disease.

I have volunteered in three drug trials and plans to participate in more. I believe that if you want something done, then you must go out and get it done. So in order to get more treatments to market, I participated in those drug trials that accepted me and are approved by my doctor for participation.

Through the National Gaucher Foundation I attend many Gaucher patient meetings as a representative of the NGF and as a speaker and advocate for Gaucher disease. I also collaborate with the UCSF Treatment Center and Genzyme, speaking at educational meetings, seminars and conferences. With the NGF I organize fundraising and awareness events with volunteers across the country, and I have written articles, appeared on television and radio interviews, and spoken at various meetings and events about Gaucher disease and my personal experience coping with the disease. I will do just about anything to raise funds for this disease and raise awareness and educate others about Gaucher. My belief is that knowledge is power, and through education about Gaucher we can give people the power to make the right choices in their lives.

Stacey J. Feuer

I was diagnosed with Gaucher Disease in 1997 and have been living successfully with the Disease for more than ten years. I have combined my professional experience in training and public speaking with my personal knowledge of the Jewish and medical communities to relay my message of preventative education. I have spoken in U.S. for the last eight years, and recently Canada, to Jewish families, students, congregations, and clergy, as well as doctors, medical students, and industry professionals regarding her experience with Gaucher Disease. I have appeared in a nationally televised public service announcement, as well as a brief television interview on CNN, and was highlighted by the Jewish Exponent in 2003 for my work in the community. I have also written several articles relating my experiences on health and illness issues. Through preventative education, early diagnosis and appropriate treatment, my hope is that no person will unknowingly and unnecessarily suffer from the effects of Gaucher Disease, the most common genetic disease among Ashkenazi Jews.

I currently work as the assistant director of Intercultural Affairs at Penn State Abington outside of Philadelphia, Pennsylvania. I am also presently pursuing my master's in leadership development with an emphasis on the health and biotechnology industry. I plan to pursue my Ph.D. in social psychology, where I can combine my interests in health and illness, diversity, and leadership studies. I have played the violin since the age of five, and currently plays with the Ambler Symphony Orchestra, where I serve as an executive board member, fundraising committee member, and co-organizer of the annual scholarship concert for young musicians.

I am committed to helping patients and family members living with Gaucher Disease and looks forward to doing so through the NGF mentor program.

Louise Glickman

I recently retired to return to my art studio (clay and fabric/paper) and to work in areas of charitable endeavor. My special interests are children, healthcare and healthcare education, and art, especially for children in hospitals. I live in the beautiful mountains of Asheville in Western North Carolina with my partner, artist Daryl Slaton and our two dogs, Kodi and Sheba, both rescue animals. You’ll see more about how we support animal rescue at www.tailsofwhimsy.com. My business experience includes over 30 years of marketing, fundraising, and management training for business, government, and non-profits.

My two children were two of the original 12 individuals in Dr. Roscoe Brady’s earliest trials at NIH. I was an original founder of what is currently the National Gaucher Foundation and sat on the board of NGF for many years.

My son, now 37, is the US President of a global marketing and media company headquartered in Toyko. He is married and lives in Los Angeles. My daughter Laura, 33, lives in Charlotte, NC and is product manager for institutional investment software development for Mergent, an international financial analysis company. Both continue on enzyme treatments and are doing well after much bone involvement with Gaucher. (Thank You, Dr. Mankin!!!) Laura has recently become a part of Dr. Kirshnani’s Gaucher Treatment Program at the Duke Medical Center in Durham, NC. My son is treated by Dr. Barry Rosenbloom in Los Angeles, but has had treatments in the various places he has lived including Tokyo, NY, and Seattle.

Kevin R. Kline

I was born in 1971 in New York City, and was diagnosed with Type One Gaucher Disease in 1976. I am the only one in my family with Gaucher, although my brother and sister are both carriers. Early on I spent months on end at NIH participating in many tests, studies, and protocols. Those years were fraught with many unknowns, concerns, and many sleepless nights for my parents and siblings.

Today, looking back on those years, one thing stands out. No matter how invasive and or generally frightening anything seemed, the Doctors, Nurses and Researchers at NIH always made the environment and their patients feel comfortable and safe. Of course that was not always easy to do. In those days everyone involved was learning on the fly, addressing issues as they came up, and easing patients and parents concerns when necessary. It is a credit to all involved for being able to create a feeling of trust, security and safety in such an unknown and trying time in the lives of everyone involved.

It is with that in mind that I decided to become a member of the National Gaucher Foundation Patient Mentor Program. Knowing the overwhelming sense of fear and uncertainty that goes along with the diagnosis of Gaucher's Disease, and its management, and having been through this, myself as a child, a teen, and an adult, I have the unique ability to address the issues and concerns of anyone touched by the disease.

Robert Pavel

My name is Robert Pavel. I am a single 57 year old, living in San Francisco and have been on Ceredase, later Cerezyme® since 1994. Doctors in Hungary diagnosed me correctly at 2 years old in 1952. I am a European Jew with Type I Gaucher Disease, specifically N370S/84GG. No children. My brother has two adult children with no GD. No other GD known in my family.

My frequent nosebleeds and enlarged spleen caused some inconvenience and embarrassment in school and fright for my parents. I was a great curiosity at every clinic visit and each lab test and X-ray just proved what was already known. Lucky for me I had no more serious involvement. Common practice at the time, my enlarged spleen was removed when I was 12 years old.

The NY Times published an article about Gaucher Disease research around 1975 and my very tenacious mom contacted Dr. Brady at NIH. Although no treatment was available, Dr. Brady related his promising research. This led to my receiving copies of Rubin Bakin's newsletter - the forerunner of the NGF.

I was 40 years old when I first met another person with Gaucher Disease at a meeting in San Francisco sponsored by NGF. By the time I joined an NIH study and started Ceredase in 1994, I had been visibly "pregnant" for many years. My 5x enlarged liver entertained and impressed many physicians over the years.

Six months after beginning IV therapy with Ceredase my blood counts became more normal and my liver began shrinking. The best news is that right at the 2 year mark I experienced a dramatic surge (do not confuse this with current US actions!) in energy that made me want to run and jump. My liver had gone down to a normal size and most blood work was and remains close to normal.

My bones still show the classical Erlenmeyer flask deformity but scans indicate a bone density that has stabilized at t2 for the last 10 years. I am able to lead a normal life with normal diet and activities for my age. Chito lab test results showed that I needed to return to infusions every 2 weeks rather than the 4 week regimen that I tried for one year. My dosage of Cerezyme® has remained at 3600 units for my 135lb/60kg weight for many years.

Linda Rubenstein

I was born and raised in the Boston area. I graduated from University of Hawaii with a degree in Marketing, Psychology and Communication. In 1990 at my annual check-up my doctor noticed my platelets were low and my spleen was enlarged. After a year of very “scary” tests and platelets dropping even more and my liver and spleen were 5x their normal size, I was anemic, would bruise easy and seemed to be getting sicker. My Primary Care Physician not knowing what I had finally sent me to a Hematologist/Oncologist who fortunately specialized in Gaucher Disease. After a bone marrow test I finally I was diagnosed in 1991 with Gaucher Disease and immediately started ERT. My bones were just showing signs of the disease when the ERT stopped further bone problems. My platelets finally started to go up, I was no longer anemic and year after year my liver and spleen finally returned to its normal size. When I became pregnant I participated in a study since I was one of the first woman pregnant and on ERT. I went off ERT for 3 months and my platelets started crashing down very quickly. I started back on ERT in my fourth month and my platelets stabilized and I gave birth to a healthy boy.
I am an Adult living with Gaucher Disease and feel very fortunate to have a “miracle” drug that allows me to live a normal healthy life.

I am a Gaucher Advocate and speaker. For the past 14 years I have been the President of the Boston Chapter for the NGF and have organized yearly meetings. I have done TV interviews while at the Biotech Conferences. I have done Newspaper interviews for my local papers. I have been on the CityLine TV show and was in the original video that Genzyme put together when their new facility in Allston opened which explained about Gaucher disease for the visitors to watch. I have spoken at numerous conferences and seminars for doctors, healthcare professionals, grad students and students attending colleges. I participated in the Expression of Hope and spoke at the opening of the tour at the Genzyme facility for doctors and scientists all over the world. I attended the Biotech conference and spoke with various attendees about the Expression of Hope.

I have been available over the past 16 years to speak to other Gaucher Patients or families regarding pregnancy on ERT, children with Gaucher and have listened, helped and put Gaucher people in touch with each for their specific needs. I am available anytime to speak with anyone. I have a lot of empathy and understanding and am always willing to listen.

Betsy Simon

Diagnosed in 1982 at 3 years old I have lived almost my entire life with Gaucher Disease. I don't ever remember a time when I didn't know I had Gaucher Disease. Even though I started treatment as soon as it became available in 1991 I had already had suffered some of the effects of my disease. In 1987 I had one of the first partial spelectomies in the country.

in 2001 I met and married my husband who is a Rabbi. We have a 6 year old daughter who is a carrier of Gaucher Disease.

I was 26 years old before I met another person who had Gaucher Disease. I have moved to many places around the US and have met many physicians who have never heard of Gaucher Disease. I want to be a mentor to help others who may feel overwhelmed and alone.

Christine C. Stanton

I was diagnosed with Gaucher Disease when I was in my late thirties. Prior to that time, there had been mild symptoms which had been misdiagnosed as anemia, arthritis and Padgett’s Disease. So I was lucky to have grown up very normally, with no restrictions on activity, sports, etc. However, when I was pregnant with my daughter, the Gaucher Disease went into “overdrive” in my system, and was diagnosed by a bone marrow test when my blood counts became incredibly low. It was quite a shock to discover at 20 weeks pregnant that I had a chronic disorder that would require therapy for the rest of my life! By that time, my liver and spleen were quite enlarged and I had some involvement with one hip bone and femur. Lucky again, it was caught before too much permanent damage occurred and everything except the bones are back to normal, after receiving enzyme replacement therapy since 1993.

I have a wonderful husband and daughter, and my infusions are just part of everyday life now. My nurse is one of my best friends! My career was never affected, since I was able to have my infusions at home either at night or on weekends, and I enjoyed more than 20 years in the hotel/resort industry. I now work with my husband part time as a convention broker, specializing in site selection for companies and associations looking for the perfect destination for their conventions. My daughter does not have Gaucher, is a sophomore in high school, with many activities, and has just accomplished her goal of becoming Drum Major for next fall’s marching band season!

My sister, who lives near Philadelphia also has Gaucher Disease, and also receives enzyme replacement therapy and lives a very normal life. However, we are the only ones in our family who have Gauchers, and there is neither a history of the disease in our family, nor any Jewish ancestry to our knowledge.

Shelley Viviani

I was born in 1954 in New York to European Jewish parents. I was diagnosed with Gaucher Disease type 1 in 1973. My spleen was removed in 1974 due to enlargement. In the subsequent years I had an enlarged node (with GD) removed from my neck. I've had a history of back problems, hip problems, total hip replacement and revision and a decompressive laminectomy at L4-L5. I began on ERT in July 2001. My first hip surgery was October 2001.

I live in the San Francisco Bay area and have worked full time as a teacher for visually impaired and blind students since 1980. I also recently taught a class at San Francisco State University. I attend Gaucher Advocacy meetings in my region and once spoke on a panel, to share my basic history with GD.

I live with my husband in Redwood City, California. I have 3 sisters, none of whom have GD. My father died at age 67 from complications of a dementia like Parkinson Disease. My mother is 79 years old and has a Parkinsonian like dementia (Lewy Body). I love to travel and have an active life in between surgeries and physical ailments. I also have asthma, rheumatoid and osteo arthritis. And I am blessed with some of the most amazing doctors who have helped me find my way through the maze and obstacle course that is the life of a person (and their family) with Gaucher Disease.

Elaine Weiss

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.