Doctor insights on:
Gaucher Disease In Children
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
Inherited metabolic: Genetic disorder with enzyme deficiency. Causes fatty deposit storage in many tissues associated with pain. ...Read more
Cell problem: An enzyme deficiency (genetic) that results in accumulation of toxic material in certain cells. ...Read more
"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
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
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
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
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
Children: Diarrhea and ear infections along with colds ...Read more
Progeria: Little is known about it.Get a more detailed answer ›
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
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
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