Doctor insights on:
Oldest Child Living With Pompe Disease
My grandson has infantile pompe disease and is presently being treated. I am in my sixties, should I go for
No: The chances of it making any difference now are negligible. You don't have the disease or you wouldn't live to be a grandfather. It is passed as a recessive gene through unaffected parents. Both parents must carry the recessive gene & could have normal, carrier or affected offspring. Other family members may want carrier testing but it is difficult & only available at specialty centers. ...Read more
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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