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Crohn's Disease

Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any part of the gastrointestinal tract. Signs and symptoms often include abdominal pain, diarrhea, fever, and weight loss, and possible bowel obstruction.  Other complications may occur outside the gastrointestinal tract and include anemia, skin rashes, arthritis, and tiredness.  Crohn's disease is caused by a combination of environmental, immune and bacterial factors in genetically susceptible individuals. It results in a chronic inflammatory disorder, in which the body's immune system attacks the gastrointestinal tract possibly directed at microbial antigens.

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Gaucher Type 1, 2, And 3 - A Parent Explains The Differences

We recently had the pleasure of talking to Theresa Sweeny, co-founder to GT23 Foundation, a non--profit organization to help promote awareness and research for Gaucher's Type 2 and 3. At present, most awareness and most treatment for Gaucher's disease is focused on Gaucher's Type 1. It now has several treatment options. In contrast, patients with Gaucher's type 2 or 3 have limited treatment options. While all three types have a similar symptoms in the body (enlarged spleen, liver, bone disease, anemia,etc) that can be treated with current enzyme replacement therapies, Gaucher type 2 and 3 also have a central component that current treatments cannot reach (they do not cross the blood brain barrier). For these reasons, a new organization that solely focuses on Gaucher's type 2 and 3 was needed to raise awareness and to raise funds for further research. Enter the GT23 Foundation. We met with Theresa during the Rare Disease Day events in Washington D.C. and in this video clip she explains the differences between the three types of Gaucher diseases. Gaucher Type 1, 2, & 3 -- peripheral effects The peripheral systems affected in Gaucher disease tend to be similar in all three types of the diseae with enlargement of the liver and spleen, anemia, nose bleeds, reduced platelets (resulting in easy bruising and long clotting times), bone pain ("bone crises"), bone deterioration, osteoporosis. The course of the disease is quite variable, ranging from no overt symptoms to skeletal problems, liver or spleen damage, bleeding, or other problems. Gaucher Type 2, & 3 In contrast to Gaucher type 1, types 2 and 3 also have a neurological impairments due to the disease. This is especially alarming since current treatment options for Gaucher disease do not cross the blood brain barrier in sufficient amounts to help. Type 2 disease is the more serious of the conditions. It has an earliest onset (within the first 3 to 6 months of life) and it is fatal (most die before the age of 2 years). Patients with Type 3 Gaucher disease have a varied set of symptom. Some patients (type 3a) begin to show symptoms in the late teens to early twenties with a more rapidly progressive deterioration of central nervous system function and relatively lesser involvement of the visceral organs. Others (type 3b) have an earlier onset with more pronounced peripheral symptoms (enlarged spleen, liver, progressive bone disease) than central symptoms (abnormal eye movement and slower development). For more information about Gaucher Type 2 /3 visit www.gaucherdisease.org or www.gt23foundation.org/. You can also 'like' Theresa's foundation on facebook at www.facebook.com/GT23Foundation

2 Minutes, 35 Seconds September 17, 2015

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