Gaucher+Disease-Gaby+O

** Gaucher’s Disease ** ** Description:  **  Gaucher’s disease is rare genetic disorder in which a person lacks an enzyme named glucerebrosidase. This enzyme is needed because it helps break down fat called glucerebroside. Without the enzyme, the fat cannot be broken down causing unwanted substances (fat) to build up in the liver, spleen, and bone marrow. These substances prevent the cells and organs from working properly. The most common type, Type 1, affects both children and adults. It involves bone disease, anemia (a condition in which the body doesn’t have enough healthy red blood cells), an enlarged spleen, and thrombocytopenia (a disorder that causes the patient to have low abnormally low amount of platelets. Platelets are parts of the blood that help blood clot properly.      
 * Inheritance:**

This rare disorder is a recessive disease. Both parents must have it in order to pass it on to their child.

 **Symptoms: **  Showing signs of Gaucher’s Disease Type 1 are: bone pain and fractures, easy bruising, enlarged spleen and/or liver, fatigue, anemia, thrombocytopenia, yellow spots in your eyes (pingueculae), delayed puberty, & nosebleeds.

 **Daily Life: **  Children are limited to physical abilities and athletic events. They are encouraged to dismay physical contact sports (basketball, soccer, football, etc.) and pushed towards non-physical contact sports (swimming, dance, etc.) They develop more slowly, are slower, and shorter while growing up. They may seem uneven or off balance, underweight and height.

<span style="font-family: 'Times New Roman',serif;"> **<span style="color: black; font-family: 'Times New Roman',serif;">Diagnosis: ** <span style="color: black; font-family: 'Times New Roman',serif;"> - DNA Testing: This can be performed to determine if a person is a carrier and/or diagnosis. <span style="color: black; font-family: 'Times New Roman',serif;">- Blood Test: If the disease is suspected, doctors will take a blood sample to find out if the patient has a low level of the enzyme, glucocerebrosidase. If they do have the disease they will have 85% less glucocerebrosidase than healthy patients. <span style="color: black; font-family: 'Times New Roman',serif;">- Prenatal Testing: This test if only performed to determine if a baby in the womb has it.

<span style="font-family: 'Times New Roman',serif;"> **<span style="color: black; font-family: 'Times New Roman',serif;">Treatment: ** <span style="font-family: 'Times New Roman',serif;"> <span style="color: black; font-family: 'Times New Roman',serif;">- Enzyme replacement therapy: This therapy usually helps decrease the size of the liver and spleen, abnormal skeletal growth, and reverses other symptoms of the disease, including unusual blood counts. <span style="color: black; font-family: 'Times New Roman',serif;">- Bone marrow transplantation: This treatment replaces damaged or destroyed blood forming cells but it’s a very dangerous procedure due to imperfect donor matches. <span style="color: black; font-family: 'Times New Roman',serif;">- Occasionally some people with Type 1 disease may not need treatment since symptoms are so mild and there’s no specific treatment for Type 2 <span style="color: black; font-family: 'Times New Roman',serif;">

<span style="font-family: 'Times New Roman',serif;"> **<span style="color: black; font-family: 'Times New Roman',serif;">Research: ** <span style="font-family: 'Times New Roman',serif;"> <span style="color: black; font-family: 'Times New Roman',serif;">The National Institute of Neurological Disorders and Stroke supports research to find ways to treat and prevent the disease.

<span style="font-family: 'Times New Roman',serif;"> **<span style="color: black; font-family: 'Times New Roman',serif;">Additional Facts: ** <span style="font-family: 'Times New Roman',serif;"> <span style="font-family: "Times New Roman","serif";">-Gaucher’s Disease is most common in the Ashkenazi Jewish population. -<span style="font-family: "Times New Roman","serif";">Symptoms of Gaucher’s Disease can develop at any age – there have been some reports of patients that have started to show symptoms at 90 years old.

**<span style="color: black; font-family: 'Times New Roman',serif;">Punnett Square: **<span style="font-family: 'Times New Roman',serif;"> <span style="color: black; font-family: 'Times New Roman',serif;">

<span style="font-family: 'Times New Roman',serif;"> **<span style="color: black; font-family: 'Times New Roman',serif;">Pedigree Chart: **<span style="font-family: 'Times New Roman',serif;"> <span style="color: black; font-family: 'Times New Roman',serif;">

<span style="font-family: 'Times New Roman',serif;"> **<span style="color: black; font-family: 'Times New Roman',serif;">﻿Resources: **<span style="font-family: 'Times New Roman',serif;"> <span style="color: black; font-family: 'Times New Roman',serif;">

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