NGF Community Blog

[Video] Meet Dr. Pramod Mistry

Dr. Mistry is the director of the National Gaucher Disease Treatment Center and professor of pediatrics and medicine at Yale School of Medicine. He is board-certified in internal medicine. Dr. Mistry has authored numerous journal articles, book chapters and reviews on Gaucher disease. He has received several awards for his work on Gaucher disease, including:… Read More »

Topics: About Gaucher Disease, Gaucher Disease Research

Gaucher Disease Pain Management

For many Gaucher patients, dealing with pain is one of the most difficult parts of living with the disease. Effectively treating pain requires finding its source, which isn’t always straightforward. A variety of medications and therapies can relieve pain for Gaucher patients, although certain painkillers carry a high risk of addiction. A Gaucher specialist can… Read More »

Topics: About Gaucher Disease, Gaucher Disease Treatment

What We Know About the 3 Types of Gaucher Disease

While separating the three types of Gaucher disease is useful for diagnosis, researchers today see them as a spectrum of characteristics that blend together. Symptoms and disease progression are highly variable among individuals, even those with the same disease type or genetic mutation. Types of Gaucher Disease Gaucher disease is an inherited disorder where the… Read More »

Topics: About Gaucher Disease

Meet Ted: Gaucher Disease Patient Journey

In 1963, Ted was diagnosed with Gaucher disease type 1 at five years old. Enzyme Replacement Therapy wasn’t FDA approved until 1991, so Ted spent many years living with this disease and without any treatment. He draws on his experiences to help patients, students and medical professionals see the positives in the worst life can offer…. Read More »

Topics: Living With Gaucher Disease, Patient Journeys

How Researchers Uncovered the Gaucher Carrier Rate

Today, researchers are working on complex problems related to Gaucher disease like finding drugs to treat neurological forms of the disease and understanding its complicated relationship with Parkinson’s disease. But 37 years ago, scientists were struggling to grasp how many people even had Gaucher disease, let alone how many were asymptomatic carriers capable of passing… Read More »

Topics: About Gaucher Disease, Gaucher Disease Research

Clinical Trial for Gaucher Disease Type 3

Sanofi Genzyme’s Phase 2 Clinical Trial to Evaluate Oral Substrate Reduction Therapy for Gaucher Disease Type 3 Sanofi Genzyme is investigating an orally administered substrate reduction therapy in Gaucher disease type 3 as part of the 2-part LEAP clinical research study. The first part of the LEAP study will measure and compare certain factors in… Read More »

Topics: Gaucher Disease Research

[Video] Brian’s Story: Finding a Treatment for Type 1 Gaucher

Brian Berman is president and chief executive officer of the National Gaucher Foundation (NGF). Diagnosed at the age of 4 with Type 1 Gaucher disease after suffering critical and worsening symptoms, Mr. Berman’s initial prognosis was grim. His parents refused to watch their son die without a fight. They found Dr. Roscoe Brady, who was… Read More »

Topics: About Gaucher Disease

Meet the Garay Family: Gaucher Disease Patient Journey

The Garay family has three children: Diego, 9, Sienna, 5, and Annika, 3. Annika was diagnosed with Gaucher disease six months ago, and Diego was diagnosed shortly after that. Their mother, Ana, shares the impact this diagnosis has had on their family. What were the events leading up to your children’s diagnosis? In January of 2015,  Annika… Read More »

Topics: Living With Gaucher Disease, Patient Journeys

Meet Lauren: Gaucher Disease Patient Journey

This month we are introducing you to several faces of Gaucher disease. Lauren is 23 years old, and was diagnosed at age 18. We spoke with Lauren to understand what the diagnosis has meant for her life. Briefly describe the events leading up to your diagnosis at age 18. It started when I got blood… Read More »

Topics: Living With Gaucher Disease, Patient Journeys

Can Gaucher Disease Carriers Have Symptoms?

The National Gaucher Foundation has received several inquiries from people identified as carriers who are experiencing Gaucher disease (pronounced go-SHAY) symptoms. Many people are curious about whether or not Gaucher disease carriers can have symptoms. The short answer is no, but it is possible that some people were misdiagnosed. This post explores how Gaucher disease… Read More »

Topics: About Gaucher Disease, Gaucher Disease Diagnosis

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