Category: About Gaucher Disease

Gaucher: SRT, ERT & Drug Interactions | National Gaucher Foundation

Gaucher Disease: Enzyme Replacement Therapy, Substrate Reduction Therapy & Potential Drug Interaction Side Effects Like enzyme replacement therapy (ERT) treatments, FDA approved eliglustat as a first-line therapy for certain people living with Gaucher disease. Many people prefer SRT instead of ERT because it’s less invasive and usually more convenient to receive treatment. But while SRT… Read More »

Ambassador Spotlight: Lauren Edwards

What were the events leading up to your diagnosis? What first led me to my diagnosis was getting a required blood test prior to starting Accutane, an oral medication for acne. When my results arrived, I discovered that my iron levels were extremely low and that I was anemic; I was then encouraged to see… Read More »

Ambassador Spotlight: Kelly Burns

What were the events leading up to your diagnosis? I had been getting lots of nose bleeds as well as experiencing a lot of bruising and extreme fatigue. I was a teenager. I chose to hold off on starting treatment since I was stubborn and didn’t want bi-weekly infusions to disrupt my schedule. What has… Read More »

Ambassador Spotlight: Ilaina Davidson

NGF Ambassador Ilaina Davidson has two young children with Gaucher disease. Rebecca (10) has been on ERT for 8 years and Abby (8) has been receiving treatment for 4 1/2 years. She, and daughters Rebecca and Abby, share their experiences and perspectives with us in this month’s Ambassador Spotlight.   What were the events leading… Read More »

2019 WORLDSymposium

In early February, more than 1,600 participants from around the world gathered at the annual research conference WORLDSymposium™. WORLD stands for “We’re Organizing Research on Lysosomal Diseases.” Why WORLD? If two heads are better than one, imagine what 1,600+ heads can do? The WORLDSymposium focuses on lysosomal storage diseases, including Gaucher disease. The goal of… Read More »

A Patient’s Perspective: The Importance of Gaucher Specialists

Contributed by Stu Berman Having been diagnosed in the early 1970’s, I have been a Gaucher patient for most of my life. Over these years, I have had the pleasure of meeting many GD patients, both at NGF meetings as well as other GD patient meetings at various hospitals. These interactions have given me the… Read More »

In Memoriam: Dr. Henry Mankin

The National Gaucher Foundation is saddened to hear of the passing of Dr. Henry Mankin. For forty years, Dr. Mankin was the chief of orthopedics at the Massachusetts General Hospital and at Harvard Medical School. Born in Pittsburgh, he was the son of immigrants from Lithuania. Dr. Mankin was a beloved member of the medical… Read More »

2018 NGF Patient Symposium: Q&A

At a recent symposium on Gaucher disease, nationally and internationally renowned Gaucher disease experts answered a variety of questions about the condition. Topics touched on everything from advances in gene therapy to the role of diet in Gaucher disease treatment to whether people with Gaucher disease have certain biological advantages. Read the Gaucher disease Q&A… Read More »

The History of Gaucher Disease

The history of a disease can be tricky to pinpoint. An individual disease makes people ill long before the disease itself has an identity or name. Archaeologists found evidence of cancer in ancient Egyptians, though cancer didn’t get its name until 1,000 years after the ancient Egyptians. When Was Gaucher Disease Discovered? So it’s probably… Read More »

[Webinar] Parenting Adolescents with Gaucher Disease

On October 8, the National Gaucher Foundation hosted a webinar featuring Laurie Bailey, Clinical Research Manager at Cincinnati Children’s Hospital. You can watch the recording below. Toolkit Presentation Slides Transitions Growing and Managing Your Own Healthcare: What Every Teen Living with an LSD Needs to Know to Manage Their Healthcare – Dawn Laney, MS American… Read More »

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