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 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 bills. 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 he is a carrier for Gaucher. So we decided to check the fetus and, 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.
Of course, it wasn’t lymphoma, but I was having a bone crisis in my pelvis related to Gaucher. I had a bone marrow biopsy which showed the Gaucher cells. This made for 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 treatment and things started to look up. I had a corrective surgery to remove scar tissue from the delivery and began to feel much better.
We now have three boys with our middle son, Eli, having Gaucher Disease. Eli is lucky to be 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 co-found Gaucher Community Alliance. 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.
