Gaucher disease, type 3

Norrbottnian Gaucher disease; Subacute Neuronopathic Gaucher Disease; Type 3 Gaucher Disease

Pictures

Hannah at her first Cerezyme infusion for Gaucher s Disease type

We aren t sure which type of Gaucher s Disease Hannah has yet but after three nurses tried three different IV attempts the rest of the infusion treatment was a breeze as long as the Wiggles were on the TV my beautiful 6 month old girl was a happy camper during the 2 1 2 hour infusion

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Disease history Gaucher disease was first described in 1882 by French physician Philippe Charles Ernest Gaucher after he evaluated the corpse of a 32 year old woman with an enlarged spleen one of the

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Gaucher cells Lipid engorged cells with eccentric nuclei known as Gaucher cells accumulate and displace healthy normal cells in bone marrow and visceral organs causing a host of signs including

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of energy and stamina enlarged spleen and liver bone pain spontaneous fractures and increased bleeding tendency such as nosebleeds and bruising see Table for a short self examination Each Gaucher patient has a unique story Stacey Feuer a 25 year old Type 1 Gaucher s patient for example reports I was healthy for 3 years Then one and a half years ago my condition

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