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Doctor insights on: Oldest Child Living With Pompe Disease

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What is the definition or description of: pompe disease?

What is the definition or description of: pompe disease?

Pompe disease: Is glycogen storage disease type 2. Is an autosomal recessive metabolic disorder with muscle & nerve cell damage, leading to muscle weakness & myopathy throughout the body. ...Read more

Dr. Sewa Legha
6 doctors shared insights

Pompe Disease (Definition)

Is glycogen storage disease type 2. Is an autosomal recessive metabolic disorder with muscle & nerve cell damage, leading to muscle weakness & ...Read more


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How is pompe disease treated?

How is pompe disease treated?

Enzyme replacement: Through biotechnology, enzyme replacement has been developed, which should stabilize the symptoms. ...Read more

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What exactly is pompe disease?

What exactly is pompe disease?

Glycogen storage: Pompes disease is a glygogen storage disorder type ii , due to lack of an enzyme glycogen ( the way you store glucose in muscle and liver) can not be broken down.Glycogen excess in muscle causes severe muscle weakness(hypotonia) and eventuallybrespiratory failure(due to respiratory muscle involvement). ...Read more

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Can you tell me how pompe disease in adults work?

Can you tell me how pompe disease in adults work?

Mutations of a gene : on Chromosome 17q25.3 that codes for a lysosomal enzyme that breaks down glycogen cause Glycogen Storage Disease Type II or Pompe Disease subtypes . It is autosomal recessive, the mutant gene comes from from both unaffected carrier parents. Age of onset & rate of progression of pelvic & leg, then arm & respiratory muscle weakness vary with subtype. See www.agsdus.org/html/typeiigsd.html. ...Read more

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Do you know if adult pompe disease is caused by a sudden mutation or a long build up of glycogen?

Do you know if adult pompe disease is caused by a sudden mutation or a long build up of glycogen?

Long build up: I'm not a geneticist; and, there are good references on this subject easily available on the net. However, a quick answer is long build-up. The disease is viewed as constitutional (born-in) and not a later development of a "sudden mutation". If you are really interested, do your homework on the subject by looking at NIH and other sites. ...Read more

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Is it common for divorced women to make their oldest child trustee?

Is it common for divorced women to make their oldest child trustee?

Not medical question: This is not a medical question. Maybe better for a legal website. You need to find a capable, mature adult who you can trust completely to be a trustee. Perhaps it is your oldest child, perhaps it is someone else. ...Read more

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Why are leadership skills more likely to develop in the oldest child in the family?

Why are leadership skills more likely to develop in the oldest child in the family?

If True....: I am not sure that your contention is true. But the oldest is generally expected to take on more responsibility in helping the younger siblings and parents. This engenders responsibility and better decision making if the child is capable ...Read more

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Does the oldest child decide on a parents burial and medical decisions?

Does the oldest child decide on a parents burial and medical decisions?

Not necessarily: Hopefully this has been decided by your parents before it is necessary . That is what a will is for. Parents usually choose the child who they feel should be in charge and that may or may not be the oldest. Being firstborn doesn't rest that responsibility on one just by virtue of birth order...Unless you are an only child. ...Read more

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After a lot of research, I feel pretty confident that I have chronic pelvic girdle pain (my oldest child is 7). What kind Dr do I need to see?

After a lot of research, I feel pretty confident that I have chronic pelvic girdle pain (my oldest child is 7). What kind Dr do I need to see?

Internist: I will depend on your impressions. At least 6 major causes contribute to CPG pain. If you think your discomfort is attributable to CPG pain, an internist will be the first consult to sort through possible causes, and will be in the best position to direct your care. Please request an internist from Healthtap and you will be directed to one of the many qualified internist in the network. Take care. ...Read more

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Help me. Oldest child won't get me a phone in nursing home, and I want to talk with my youngest daughter and grandson.?

Help me. Oldest child won't get me a phone in nursing home, and I want to talk with my youngest daughter and grandson.?

Difficut to do: You might want to talk with your oldest child about how important it is for you to have family contact. Your eldest could bring his/her cell phone and when he visits you, you could call your youngest daughter and grandson to chat. If not, how about your youngest daughter calling you at the nursing home main number to talk briefly. You have email access, how about emailing them weekly? ...Read more

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Cerebral palsy or physical disability more common in firstborn child?

Cerebral palsy or physical disability more common in firstborn child?

No: Birth order is not a specific risk factor for cerebral palsy. It is however more likely to occur in children born prematurely. ...Read more

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I bonded quickly with my firstborn but not my second newborn. Is this normal?

I bonded quickly with my firstborn but not my second newborn.  Is this normal?

Yes: Comparing kids, how they develop, your interactions with them etc., is both very normal and a very bad idea. Your kids are individual people, and it's likely many things about them will be different. Do your very best not to compare them, and to appreciate each for whom they are. ...Read more

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In august my baby pasted away from an genetic disorder if i had another child could it happen again I have 5 other living children 3 with different fathers nothing wrong with them then I have my last 3 by the same father which sad to say my little girl wa

In august my baby pasted away from an genetic disorder if i had another child could it happen again I have 5 other living children 3 with different fathers nothing wrong with them then I have my last 3 by the same father which sad to say my little girl wa

Recommend evaluation: I am sorry for your loss. The risk of it happening again depends on what your child had, whether either parent could be a carrier. Sometimes risk is very low, close to zero% (if genetic condition happened in the baby for the first time), 25% if both parents carriers of a condition, or other risk depending on the condition. I would recommend formal genetic evaluation and counseling. ...Read more

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What diseases could cause a child to have a fevers for 2 weeks?

What diseases could cause a child to have a fevers for 2 weeks?

Infections: It is always very concerning when a neonate has fever. At this age it raises concerns as infants do not have a fully developed immune system , and it could be a severe infection. If your 2 week old has fever over 100.5 rectal you need to go se your baby's doc or go to the E.R. ...Read more

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Any one treating a child with stills disease?

Any one treating a child with stills disease?

Peds Rheum: Pediatric rheumatologists treat still's disease. Tremendous improvement in quality of life has been achieved for many children with this condition with the use of some of the newer medications called biological response modifiers. Examples are actemra, (tocilizumab) kineret, enbrel, etc. ...Read more

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How to help a child suffer from kawasaki disease?

How to help a child suffer from kawasaki disease?

Seek medical care: Kawasaki disease is a serious illness. A child with kd requires specific medical therapy (ivig and aspirin), after which there is prompt clinical improvement. If there is coronary artery involvement then lifelong cardiology care will be required. ...Read more

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What does a child with kawasaki disease look like?

What does a child with kawasaki disease look like?

Unwell: A child with Kawasaki disease is irritable, miserable, "measley" looking although most people don't know measles. The conjunctivitis is bright angry red, the lips are bright, beefy red in color, and there may be rash. High fever for at least five consecutive days is required. ...Read more

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What are the symptoms of Lyme disease for a child?

What are the symptoms of Lyme disease for a child?

Please see below.: Early symptoms of lyme disease can include rash, flulike illness characterized by fever, chills, achy muscles or joints, headache, and malaise. In the area of the tick bite, lymph nodes can be enlarged and tender. Later, facial paralysis, meningitis, arthritis, and/or arrhythmias may develop. ...Read more

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Does the age of a child affect the severity of kawasaki disease?

Does the age of a child affect the severity of kawasaki disease?

Possibly: Kawasaki disease has an unknown cause. It can actually cause a "heart attack" in some kids. I had several cases of the disease and one boy had an abnormal ekg. I found that the disease quickly disappeared when i treated these kids with a very high powered organic vitamin. I passed this information on to a professor of pediatrics at a university. He thought that i was crazy! ...Read more

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How do you treat a child with a moderate case of kawasaki disease?

IV Gamma Globulin: Kawasaki disease is a disease of unknown cause that can lead to aneurysms in the coronary arteries of the heart. The current standard of care is to treat with IV gamma globulin (ivig) and place the child on Aspirin therapy. A cardiology consult is recommended. I know of no cases of "mild kawasaki disease." either it is present or not. ...Read more

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How can you potty-train a child with hirschprung's disease symptoms?

HIRSCHPRUNG's D.: Potty training is not the problem here. It is important to diagnose the congenital anomally to correct the aganglionic portion of the colon by surgery before getting complicated with toxic megacolon. ...Read more

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What treats can I serve at a party when one child has celiac disease?

What treats can I serve at a party when one child has celiac disease?

Talk to mom: Given the food intolerance, it would be best to talk to the child's mom for guidance and make sure she is comfortable with the food prepared. ...Read more

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What testing should my child undergo for suspected mitochondrial disease? 

What testing should my child undergo for suspected mitochondrial disease? 

Consult a specialist: Mitochondrial diseases are quite complicated and best evaluated at a specialized research center or a university medical center. The united mitochondrial disease foundation website (www.Umdf.Org) lists several types of blood and urine tests, heart echo (ultrasound), brain mri, eye and audiology exams, heart ekg, spinal fluid tests, chromosome tests, muscle biopsy, etc... As possible test choices. ...Read more

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Is a child with a autosomal recessive disease for sure going to be bad off?

Depends on the dz: This all depends on which disease the child has. Some autosomal recessive diseases can be relatively innocuous (e.g., mcardle's syndrome), whereas others can be quite serious (e.g., cystic fibrosis). The classification of "autosomal recessive" describes how the disease is inherited; it does not define the characteristics of the disease itself. ...Read more

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Which valentines treats can I give my class if one child has celiac disease?

Which valentines treats can I give my class if one child has celiac disease?

Ask the parent: Why give food or treats for valentines day? There may be children with other food allergies or sensitivities that you are not aware of. Consider non food activities instead. If you still must have food, then please contact the child's parent(s) and seek their advice. They know what affects their child. ...Read more

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Dr. Jay Park Dr. Park
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What diseases or other genetic issues can be determined before a child is 1?

Dr. Jay Park Dr. Park
1 doctor agreed:
What diseases or other genetic issues can be determined before a child is 1?

Too many to list: Even the newborn screening tests detect 30+ metabolic and genetic conditions. ...Read more