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