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My diagnosis of Gaucher Disease at age 27 came as a shock and a relief.

Meet Aviva

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 me and said she would like me to come see her. Of course, I panicked. My first thought was something is wrong with the baby. I was increasingly agitated over the phone, “tell me, tell me”. 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 symptoms I was having my whole life 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 3 or 4 bloody noses. As an adolescent I was diagnosed with anemia. So my pediatrician told me to take iron pills. 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 it’s 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 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, 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 3 months of having our beautiful son Jonah, I started on imiglucerase and things started to look up. I had a corrective surgery to remove scar tissue from the delivery and began to feel much better.

Fourteen years and two more sons later, my husband and I are enjoying a very active family life with our 3 boys. Our middle son, Eli has Gaucher Disease, and has recently started treatment. Over the years I have switched to various ERTs and have been part of a clinical study for the past 6 years. I am thankful that there is treatment and that Eli is enjoying a healthy and happy childhood along with his brothers.