NGF Mentor: Robert Pavel

Robert Pavel
California
Adult with Gaucher
Email: rpavel@sbcglobal.net

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.