It will be updated on an occasional basis, and links to new posts will be included on our website and in our newsletter, which you can sign up to receive here.
We hope you will enjoy these personal reflections.
by Aviva Rosenberg
Gaucher Community Alliance (USA) Co-Founder and Co-President and IGA Board Member
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.
As with 2020, 2021 has been a difficult year for all of us, as patient representatives, patients, caregivers and personally with our friends and family. We have not been able to meet up, spent time alone in our homes and had disruptions to treatments, clinical care, and our jobs; however we have also achieved so much for our community, and we should take few minutes to remember that.
2021 saw us strengthen our membership with two new members from Portugal and Thailand, making our membership 57 strong. Despite no face-to-face meetings the IGA was present and participated in many international meetings, patient advisory boards, educational workshops, and webinars to ensure that the voice of the Gaucher patient is strong and present so that the needs of our community are heard and actioned to the best of our ability.
We are particularly excited to be working alongside the IWGGD on various initiatives including GD international guidelines, home therapy, newborn screening and a series of workshops on ethical dilemmas in Gaucher disease.
With a diverse and changing world we have been successful in increasing our reach and global footprint to support our community with new regional managers, all volunteers, plus volunteers joining our project groups, such as home therapy, Go with Gaucher, translations, older generation, and co-morbidities.
We have seen a new treatment in clinical trial for type 2 Gaucher disease. With such a huge unmet need this trial is very important and we will watch and wait for the data to be available. We have also seen further recruitment for a GD1 gene therapy trial and anticipate new trials in GD1 and GD3 for 2022 with serial modalities.
Finally, we are putting the final touches to GARDIAN, our patient owned, patient led nGD global registry which we will open in January 2022 and can’t wait to accept patient zero into the platform.
2022 is now upon us and we are excited to be hosting a face-to-face members meeting in May in Leiden, Netherlands. We do hope that all our members will be able to send their representative and hope to invite some new fledging organisations that are considering joining us.
As always, we have a demanding annual programme and will be seeking financial and manpower resources to support it; we will share this with you in the New Year.
I hope you were able to take time for yourself over the holidays and remember that in 2021 you made a difference in the world. 😊