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Doctor insights on: Gaucher Disease In Children

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Is gaucher disease rare?

Is gaucher disease rare?

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. ...Read more

Dr. Linda Callaghan
15 Doctors shared insights

Gaucher Disease (Definition)

A genetic disorder with enzyme deficiency. Causes fatty deposit storage in many ...Read more


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Can you tell me what is gaucher disease?

Can you tell me what is gaucher disease?

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. ...Read more

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What is the definition or description of: gaucher disease?

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

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

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

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

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. ...Read more

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What is effective therapy for gaucher disease?

Adults & children: With GD Type 1 may have symptom reduction or reversal from Enzyme Replacement Therapy. Different ERT's are approved for kids & 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. ...Read more

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Can a fetus be genetically tested for gaucher disease?

Yes, if both parents: Are carriers of 1 or more mutations that cause the different types of Gaucher Disease (GD) or, less commonly, if mom has GD, Chorionic Villous Sampling or Amniocentesis for DNA mutations & enzyme analysis for GD is warranted. It is important to know the parents' specific mutation (s), preferably before conception, to guide both prenatal testing & testing of all family members for carrier status. ...Read more

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Can you tell me things to keep in mind about gaucher disease?

Can you tell me things to keep in mind about gaucher disease?

Get in touch with a: Pediatric orthopedist who deals with these problems. Treatment is generally supportive, depending on the symptoms. The enzyme that is deficient in the body of these kids, its replacement therapy is available. Get the kid regularly checked. ...Read more

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

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. ...Read more

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

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. ...Read more

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What diseases are most children. Vaccinated against?

What diseases are most children. Vaccinated against?

Vaccines: Full schedule of vaccines for the US can be found through the CDC. In brief: Children receive (not in this order): diphtheria, tetanus, pertussis, hepatitis A/B, strep pneumo, polio, hemophilus influenza type B, rotavirus, measles, mumps, rubella, varicella, meningococcus, influenza, human papilloma virus. Other vaccines available depending on travel or other circumstances. ...Read more

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What are the symptoms of rickets disease in children?

What are the symptoms of rickets disease in children?

Multiple symptoms: May include the following: leg, spine and/or hip pain, poor growth, bowed legs, protruding breast bone, muscle pain, delayed walking or refusal to walk, thickened wrists/ankles, bumps along the ribs. ...Read more

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Is Lyme disease more serious in children?

Is Lyme disease more serious in children?

Not necessarily: Lyme is a complex illness. Some who have it become quite ill, while others have mild symptoms. This depends on the strain of lyme bacteria, genetics of the patient, presence of co-infections like babesia & bartonella & factors that affect immune function like nutrition, parasites, heavy metals, mold exposure & stress.Thus, like adults, some children become quite ill but others have minimal symptoms. ...Read more

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How common is celiac disease in children?

How common is celiac disease in children?

Maybe 1% (1 in 100): Celiac disease affects about 1 in 100 people, to about 1 in 150 people. The exact numbers are not certain, but it affects a little less than 1% of the population. ...Read more

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Frequency of huntington's disease in their children?

Frequency of huntington's disease in their children?

Autosomal dominant: transmission means that each child of a parent with documented Huntington's Disease has a 50% chance of inheriting the mutant gene on Chromosome 4p16. Guidelines for predictive testing are on http://www. Hdfoundation. Org/html/hdsatest. Php. ...Read more

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Can my children get celliac disease if a parent has it?

Can my children get celliac disease if a parent has it?

Increased Risk: Incidence of celiac sprue in this country is around 1/130. The niddk has a website for more info, first degree relatives of celiac patients are at much higher risk for developing it. Http://digestive. Niddk. Nih. Gov/ddiseases/pubs/celiac/. ...Read more

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Is there a way to help children with cancer or other diseases?

Is there a way to help children with cancer or other diseases?

Many ways: Children with chronic problems need more support and love than anything. Support them by encouraging them, giving time, reading to them and helping them perform normal activities. You may also help by helping the family support such children. ...Read more

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What 're diseases children often get caused by bacteria? Thanks

What 're diseases children often get caused by bacteria? Thanks

Here we go...: Many diseases can be caused by both bacteria and viruses - for instance you can have bacterial or viral pneumonia. However, common bacterial infections include strep throat, impetigo, some ear infections, sinusitis, pneumonia, and skin infections, especially in areas with open or injured skin. Then there are les common but more serious things like meningitis, sepsis (blood infection). ...Read more

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What kind of doctors specialize in children with rare diseases?

What kind of doctors specialize in children with rare diseases?

Not rare disease MD: It's the rare disease in whatever area the disease exists in--the rare heart disorder, the rare cancer, the rare skin disease, etc. Fully-trained and board-certified peds cardiologists, oncologists, dermatologists, would be able to treat not only the routine and everyday cardiac, cancer or skin problems and diseases, but also the rare or unusual ones. Some will be better and smarter than others! ...Read more

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What are some more subtle symptoms of celiac disease in children?

What are some more subtle symptoms of celiac disease in children?

Belly aches: There are many. .. Abdominal pain, cramping, diarrhea, bloated feeling. The more subtle sign might be growth delay - not growing as quickly as other kids. Also, certain kinds of rashes are subtle signs of celiac (look-up dermatitis herpetiformis). The trigger is wheat containing foods and other products. ...Read more

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What are the chances of passing my celiac disease to my children?

What are the chances of passing my celiac disease to my children?

5-10%: There are genetic influences in celiac disease but these increase susceptibility rather than predict outcome. Even identical twins do not always share the disorder. ...Read more

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How come children have a higher survival rate for hodgkin's disease?

How come children have a higher survival rate for hodgkin's disease?

Age is a factor: There are 3 age patterns of hd, childhood, young adult and older patients. The disease is quite similar across groups. Several studies have looked at prognostic factor. Age is the most significant in predicting outcome. ...Read more

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How do you include children with Lyme disease in everyday activities?

How do you include children with Lyme disease in everyday activities?

No need to exclude: Children with LD are at no risk of spreading their ailment to others.
They can be included with other children in activities that are only limited to their level of tolerance. ...Read more

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Could you explain what is a childrens disease called croup caused by?

Could you explain what is a childrens disease called croup caused by?

Viral illness: Croup is usually viral illness affecting upper airway that is self limited. Most cases of viral croup are mild and can be treated at home. Usually with barking type of cough. Should consult physician to evaluate child for degree of respiratory difficulty and confirm diagnosis. Sometimes necessary to add steroids to albuterol and humidifier therapy if difficulty breathing. ...Read more

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How might you include children with Lyme disease in everyday activities?

How might you include children with Lyme disease in everyday activities?

May need help: The extent of how much a child with lyme disease can be included in daily activities will depend on the extent of his disease consequences. Children with only minimal symptoms, can probably be back to pre-disease activity states. Those with more severe impairment may need help from physical and occupational therapists. A lot of resources may be found from online support groups as well. ...Read more

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I need to know who are the doctors that specializes in children with rare diseases?

I need to know who are the doctors that specializes in children with rare diseases?

Depends...: Each subspecialty in pediatrics manages patients with very rare diseases. A partial list of subspecialists includes hematology/oncology, endocrinology, nephrology, neurology, medical genetics, rheumatology, pulmonology, etc. Many of these doctors are found at pediatric academic medical centers. ...Read more

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Can you tell me is environmental pollution causing respiratory diseases in children?

Can you tell me is environmental pollution causing respiratory diseases in children?

It can: Cigarette smoke is the most studied indoor pollutant. Living among smokers doubles or triples the frequency of common respiratory illnesses in kids. It also aggravates childhood asthma. Enclosed houses often have high particulate content from recirculated air. Other environmental issues have variable and often unstudied effect. ...Read more

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Is there a disease that prevents a male from having children? If so, what is it called?

Is there a disease that prevents a male from having children? If so, what is it called?

Many: There are many disease which can lead to infertility in males. The list is too long to place here. If you are concerned, I would recommend speaking with your physician for further details and/or evaluation if needed. ...Read more

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How do I cope with the uncertainty about huntington's disease with myself and my children?

How do I cope with the uncertainty about huntington's disease with myself and my children?

Huntington's Disease: The most question is if there is a family history for this disease and if there then the potentially affected members of the family should be tested for the gene. ...Read more

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Please describe the name of the disease where mothers harm their children on purpose for attention?

Please describe the name of the disease where mothers harm their children on purpose for attention?

Munchausen by proxy: This is called munchausen syndrome by proxy. Though the perpetrator is often the mother, sometimes it can also be the father or another caregiver. It is a psychiatric illness and a form of child abuse. ...Read more

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Let me know the similarities and differences of disease manifestation in children and in the elderly in diabetes?

Let me know the similarities and differences of disease manifestation in children and in the elderly in diabetes?

Many: Older adults will often present with atypical symptoms of high blood sugar. Lethargy, dehydration, confusion. Younger people will present with a high level of acid in their blood (ketosis). Both are very serious and need urgent attention by a health care provider, as they both can result in death if not idnetified and treated early. ...Read more

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I had pelvic inflamatory disease and I want to know if I can have children I have been trying for 1 year 10 months?

I had pelvic inflamatory disease and I want to know if I can have children I have been trying for 1 year 10 months?

Consultation time: Time to consult with your ob/gyn or get a referral to a fertility center. Both you & your partner need to be evaluated. There are many possible issues & many available solutions. ...Read more

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Can children have paget's disease of the breast?

Can children have paget's disease of the breast?

Not typical: Paget's disease of the breast is most common in the 50's, though there have been documented cases in adolescents and in folks in their 80's. If there is any kind of unusual finding on the outside of the breast (male or female), or new lumps felt, it is best to have it checked by a physician. Hope this is helpful. ...Read more

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What are the most common terminal diseases that affect children?

What are the most common terminal diseases that affect children?

Congenital & cancer: Terminal conditions in children are typically based on age range and best considered as 'causes of death'
infants (less than 1 year old): congenital disorders, sids, premature birth

children (1-14 years old): unintentional injuries, then cancers, cardiac abnormalities, and finally congenital disorders. ...Read more