Question 1

is gaucher disease rare?

Accepted Answer

Uncommon: This genetic problem occurs in about one in 50, 000 to one in 100, 000 people. There are several types. One is more common in certain ethnic groups.

Question 2

can you tell me what is gaucher disease?

Accepted Answer

There isn't enough -: Space here to explain it. Briefly its one of the hemapoietic disorders, due to deficiency of a specific enzyme. Seen in kids with bone pain deformities due to bones not forming normally; bleeding can occur into joints, under the skin, liver/spleen can become rather large and due to all this kids have anemia. Can affect the hips.
Treatment depends on their symptoms ; enzyme replacement therapy.

Question 3

what is the definition or description of: gaucher disease?

Accepted Answer

Inherited metabolic : Genetic disorder with enzyme deficiency. Causes fatty deposit storage in many tissues associated with pain.

Question 4

what occurs to people with gaucher disease type 2 that don't get treated?

Accepted Answer

Not good: "gaucher disease has the earliest onset, within the first 3 to 6 months of life and it is fatal; causing death before 2 years of age. Due to the shortened lifespan, babies with type 2 will not survive long enough to develop some symptoms experienced by individuals with type 1 and type 3." 
not sure treatment will help...This is very sad.
http://www.gaucherdisease.org/gaucher-disease-type2-type3.php.

Question 5

can you please tell me about gaucher disease in a really easy definition?

Accepted Answer

Cell problem : An enzyme deficiency (genetic) that results in accumulation of toxic material in certain cells.

Question 6

what is effective therapy for gaucher disease?

Accepted Answer

Adults &amp; children : with GD Type 1 may have symptom reduction or reversal from Enzyme Replacement Therapy. Different ERT's are approved for kids &amp; adults. Substrate Reduction Therapy is given to adults with mild Type 1 who can't take ERT. No treatment can reverse  brain damage in patients with Type 2 or Type 3. Mutations of a gene on Chr. 1p22 cause all 3 Types. Call the National Gaucher Foundation, 800-504-3189.

Question 7

my girl baby is 2 yrs old.she is suffering from gaucher disease (type -1), what to do?

Accepted Answer

Gaucher Disease: Gaucher Disease is a genetic disorder.  Type I is the most common and symptoms can be minimized with enzyme replacement therapy.  Your child should have a solid medical team consisting of at least of a general pediatrician and a genetics consultant.

Question 8

what to do if my girl baby is 2 yrs old.she is suffering from gaucher disease (type -1)i want to know about?

Accepted Answer

Metabolic Specialist: There are many excellent internet resources, including the National Gaucher Foundation (www.gaucherdisease.org) and the NIH'sG enetics Home Reference (ghr.nlm.nih.gov/condition/gaucher-disease). Ask your doctor for a referral to a metabolic or genetic specialist for further care.

Question 9

what diseases are most commonly found in children?

Accepted Answer

Children: diarrhea and ear infections along with colds

Question 10

what is that disease that causes rapid aging in children?

Accepted Answer

Random mutation: This rare pattern of premature aging is caused by a random new genetic mutation. Assessment and confirmantion of any such DX by a geneticist is imperitive. Most work with a team of specialists who can monitor the DX specific healthrisks &amp; provide guidence for your local source of care.They can also help you find support groups &amp; other parents in the same situation.

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Doctor answers about:

Gaucher disease in children

A member asked:

Is gaucher disease rare?

A member asked:

Can you tell me what is gaucher disease?

A member asked:

What is the definition or description of: gaucher disease?

A member asked:

What occurs to people with gaucher disease type 2 that don't get treated?

A member asked:

Can you please tell me about gaucher disease in a really easy definition?

A member asked:

What is effective therapy for gaucher disease?

A member asked:

My girl baby is 2 yrs old.she is suffering from gaucher disease (type -1), what to do?

A member asked:

What to do if my girl baby is 2 yrs old.she is suffering from gaucher disease (type -1)i want to know about?

A member asked:

What diseases are most commonly found in children?

A member asked:

What is that disease that causes rapid aging in children?

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