gaucher disease

Gaucher Disease: 

Gaucher Disease By¨Dinabel Briceño

What is Gaucher disease?: 

What is Gaucher disease ? It’s a genetic disorder that occurs when someone lacks an enzyme called glucocerebrosidase , this lack causes harmful substances to be made in the LIVER , spleen , bones and bone marrow . This causes cells to not break down and rid from the body, so it accumulates in various parts like making your stomach bigger that its normal size . Its a recessive disease , so this means that a father and a mother must both pass a trait to its child for him to have the disease Once people get married , there is only a 25% for both mom and dad inherit the recessive trair from both .

The history of your family concerning the Gaucher disease is a very important factor which determines your chances of surviving it.: 

The history of your family concerning the Gaucher disease is a very important factor which determines your chances of surviving it .

Effects in Children: 

Effects in Children

You can have it at ANY age, childrens may have early death: 

You can have it at ANY age , childrens may have early death t

People in the Eastern and Central European are in the highest risk for this disease.: 

People in the Eastern and Central European are in the highest risk for this disease . This disease affects 1 in 50,000 to 1 in 100,000

Susan Lewis: 

Susan Lewis Was the executive director of the Gauchers Association , she has work hard and has improved the lives of many Gaucher’s families . After 14 years she retires from her work , in her 60th birthday . Since very little she had nose bleeds and bruises on her legs which she covered with dark tights . She also had a ROUND stomach which she tried to hid with loose clothes . She had her spleen removed at the age of 24. her spleen hat the weight of 6 lbs . Several months later she suffered severe pains in her body, NO DOCTOR KNEW WHAT SHE HAD. Over time her hips , legs and spine had begun to deteriorate . At the age of 37 one of her legs became shorter than the other . She died in May 2007.

There are three different types of this disease:: 

There are three different types of this disease : TYPE 1: This includes bone disease , anemia, an enlarged spleen and thrombocytopenia . It is most common in the Jewish population and affects BOTH children and adults . TYPE 2: This disease usually begins in little infant childrens . This type can lead to quick , early death . TYPE 3: This disease may cause liver , spleen , and brain problems . Some People that posess this may live into adulthood .

Gregory Macres: 

Gregory Macres In December 21, 1993, at 11 months of age , Gregory was admitted into the hospital because of health problems . Two weeks later in january 1994 he was diagnosed with Gaucher disease . It really affect his nervous system . He receives the Enzyme Replacement Theraoy for 2 years . In December 1996 he got a bone marrow transplant which his sister Ashley of 5 years old agree to donate . Gregory died at 4 years old , the same day on Ashley’s 6th birthday . “ This day will always be Ashley’s birthday . This day will always be little Gregory’s “ Heaven Birthday ”, is what his parents cited . His parents now write about how Gregory’s experience was strength and inspiration for their lifes .

Symptoms:: 

Symptoms : -Skin Changes - Bone Pain and Fractures -ENLARGED spleen - Problems with your blood -ENLARGED liver -Lung disease - Heart Problems - Seizures -EASY BRUISING - Problem with your eyes

What test can you make to be aware?: 

What test can you make to be aware ? Some may have signs of liver and spleen swelling , bone changes , lung disease , eye movement problems , heart problems , or hearing loss.To check for this you may take this tests: Blood test to look for enzyme activity MRI ( Magnetic Resonance Imaging) the area of the body being studied is palces inside a special machine that contains a strong magnet . X-Ray of the skeleton CT test: A special kind of x - ray test, use to evaluate the kind of pain . Biopsy of the Spleen

TREATMENT: 

TREATMENT 1. Enzyme replacement therapy: is a treatment in which the specific enzyme that is inactive is replaced with functional enzyme molecule produced in the lab . ERT has been successful for this disease . 2. B one marrow transplant may be needed in severe cases

PowerPoint Presentation: 

How well someone can do depends on what type of gaucher he has. The Infantile Gaucher type may lead to death , normally childrens die before the age of 5. In the other hand .. Adults with type 1 disease may expect normal life expectancy but with Enzyme Replacement Therapy . What can you expect ?

PREVENTION: 

PREVENTION For a family history of Gaucher Disease .. It is recomended to a genetic counseling . Tests can determine if parents have the gene for gaucher disease , the same as a prenatal test can determine if the fetus has gaucher disease .

Cites: : 

Cites: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001590/ http://www.gaucher.org.uk/enews.php?id=197 http://www.gaucherdisease.info/ If you want to DONATE for the Children Gaucher’s Research Fund , go to this link below and click DONATE NOW in the upper right corner. http://www.childrensgaucher.org/family-stories/heaven-birthday-gregory-macres/ THANKS FOR WATCHING!