My Diagnostic Journey

 by Aviva Rosenberg

Gaucher Community Alliance (USA) Co-Founder and Co-President and IGA Board Member

My diagnosis of Gaucher disease at age 27 came as a shock and a relief. I was newly pregnant with our first child and my husband and I decided to have the Ashkenazi Jewish Panel for genetic tests done since we are both of Ashkenazi Jewish ancestry. I was sitting in my law office when the geneticist at Tulane University called and said she would like me to come see her. Of course, I panicked. My first thought was that something was wrong with the baby. I was increasingly agitated and demanded that she tell me over the phone, and then she asked me if I knew I was homozygous for Gaucher disease. WHAT??!! What is that?

Hence my entry into the lysosomal storage world began. But, what a relief that the symptoms I had my entire life finally made sense. Ever since I was a little girl I had constant bloody noses. My mother would take me to the ENT who would cauterize it and send me on my way with reminders to use saline spray to keep it moist. Some weeks I would have three or four bloody noses. As an adolescent I was diagnosed with anemia, so my pediatrician told me to take iron supplements. During law school, a routine blood test found very low platelets which resulted in a trip to the hematologist. This specialist simply explained that some people have low platelets and its no big deal.

And the exhaustion. I couldn’t understand how my roommates could stay out all hours of the night and then go to classes the next day. I needed to sleep—a lot!

After my diagnosis, my husband got tested and we learned he is a carrier for Gaucher. So we decided to check the fetus and fortunately, the baby was only a carrier. At 26 weeks pregnant, I could not move my left leg and the pain was incredible. I called the OB who explained it was sciatica and there was no treatment. I could not sleep, eat, bathe, or do anything. After a horrible week, I went to see an orthopedic surgeon who ordered MRIs and blood tests. Within hours, and a sed rate off-the-charts, I was admitted to the hospital and told it could be lymphoma. They put a monitor on the fetus and gave me morphine. Finally!

Of course it wasn’t lymphoma, but rather I was having a bone crisis in my pelvis related to Gaucher. I had a bone marrow biopsy which showed the Gaucher cells. Needless to say, it was a very difficult pregnancy. By the time I went into labor at 38 weeks, my platelets were down to 30,000 and I had excessive bleeding during delivery, resulting in some 300 stitches. Within three months of having our beautiful son Jonah, I started on enzyme replacement therapy and things started to look up. I had a corrective surgery to remove scar tissue from the delivery and began to feel much better.

Seventeen years and two more sons later, my husband and I are enjoying a very active family life with our three boys. Our middle son Eli has Gaucher disease and is on treatment to ensure he doesn’t have the complications I had as a child. Over the years I have switched to various ERTs and then enrolled in the FDA study for the oral treatment. In 2019, I transitioned from practicing law full time to founding the Gaucher Community Alliance with Cyndi Frank. It has been my honor to work with the Gaucher community and the amazing health care providers that work to keep us living our best lives.