In February 2018, attendees from around the world met in San Diego for the 14th annual WorldSymposium, a research conference focused exclusively on the latest discoveries related to lysosomal diseases. Doctors and scientists met for three days to present and discuss cutting-edge research findings that may help change the diagnostic and treatment process for a variety of lysosomal diseases, including Gaucher disease.
Written by Wayne Rosenfield, PhD She was a beautiful child. She was so good-looking that her cuteness was almost a caricature. Her blonde hair fell straight onto her shoulders, with bangs that were cut to reveal her forehead, accentuating her big blue eyes. Her nose was small and turned up ever so slightly. She was petite,… Read More »
There is no standard definition for “resiliency” as it applies to medical science. But most healthcare providers view resiliency as the ability to “bounce back” after a setback. Resilience means you adapt easily to change and negative circumstances. Drawing from your own inner strength, you respond to stress and new situations in a positive and… Read More »
You’re probably confused by the recent healthcare industry turmoil. In our second podcast, we learn more about how bills are passed and what’s going on now.
This month’s premier podcast is focused on the basics of U.S. health insurance and how it affects Gaucher patients and their families. We spoke to Aviva Rosenberg, a healthcare attorney from Pittsburgh, Pennsylvania. She is passionate about educating people on genetic diseases and screening, as well as sharing her journey with Gaucher disease, and being… Read More »
Gaucher disease affects up to 6,000 people living in the United States. This rare disorder results from certain genetic mutations that occur on the GBA1 gene. In fact, more than 400 possible mutations can be present on this gene, and while some are more common than others, all can lead to the development of Gaucher… Read More »
It’s no secret that living with Gaucher disease can be pricy. Enzyme replacement therapy (ERT), the mainstay of Gaucher disease management, runs between $139,000 to more than $300,000 each year(1). Patients often encounter unexpected expenses, including fees for emergency services and travel costs, during the course of their treatment. Many people living with Gaucher disease… Read More »
Doctors and scientists have already made tremendous progress in the diagnosis and treatment of rare diseases, including Gaucher disease. However, many patients and families still experience a significant psychosocial burden. Often, those living with the disease must become their own “disease experts” as they navigate the healthcare landscape, deal with significant financial challenges, and learn… Read More »