Gaining 51 pounds in three years may not seem like a lot, but for Amber Mickley it meant doubling in size. When she was nine years old, Amber was small for…
In 1964, Henri Hers was studying Pompe disease when he suggested that the absence of lysosomal enzymes could be responsible for several other conditions. He was right, and a category of…
Those of us with Gaucher disease who know how much uncertainty, fear, and anger enzyme replacement treatment (ERT) shortages cause, REJOICE! Researchers have found that the oral substrate reduction therapy…
There is a link between Gaucher disease and Parkinson's disease... but it may not be what you think. A study at Shaare Zedek Medical Center in Jerusalem, Israel, has revealed that…
Gaucher disease occurs when the body doesn't produce the enzyme beta-glucocerebrosidase, which is needed to break down fats, or lipids. As a result, fatty deposits collect in the spleen and liver,…
Race and ethnicity is a touchy subject—and rightfully so—but that doesn’t mean it shouldn’t be discussed, especially in terms of healthcare. The fact is, certain genetic diseases pop up in…
When it comes to science and medicine, big things seldom come in big packages (get your minds out of the gutter). Groundbreaking discoveries that change our understanding of a disease…
Do you know how rare diseases are classified as such in the United States? If a disease affects 200,000 people or fewer, it is considered "rare." Acromegaly, cystinosis, and Gaucher…
Gaucher, considered a rare, life-threatening disease, affects 1 in every 40,000 to 60,000 individuals, and in most cases, the disease is misdiagnosed, which is just what happened to 18-month-old Tamara…
How much do you know about Gaucher disease? If you live with the condition or know someone who does, you might know a lot. But have you ever tested your knowledge?…
Gaucher disease has come a long way, but that doesn't meant it's easy to understand when you're first diagnosed. Luckily, these facts can get you started: Fact One: Gaucher disease affects…
Tamara Isaacs Ciocci spent 21 years searching for a diagnosis for her type 1 Gaucher disease--despite the fact that her own father was a doctor. Although, that's not too surprising…
Q: What is Gaucher Disease? Gaucher's is a genetic disorder with varying symptoms that range from mild to severe physically as well as neurologically. People with the Gaucher have a…
Lysosomal Storage Disorder, or LSD, is a catch-all term for more than 45 inherited metabolic disorders that result in the build-up of various toxins in the patient's cells. Currently, there is treatment…
Leanna Mullen knows what it's like to look absolutely normal while in reality being very sick. She has Gaucher disease, a rare inherited condition where the body can't break down…
Hey guys... I have a confession to make: I hate dancing. HATE. IT. I hate it because I'm bad at it, and I don't like doing things I'm bad at, especially…
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