FAQ - Myopathies, Structural, Congenital
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Is a congenital birth defect considered a pre-existing condition for purposes of health insurance?


We may be switching jobs and, therefore, health insurance. I am worried about coverage for my daughter who has a congenital birth defect (cerebral palsy). is this considered a pre-existing condition and she will be denied coverage??
We may be switching jobs and, therefore, health insurance. I am worried about coverage for my daughter who has a congenital birth defect (cerebral palsy). is this considered a pre-existing condition and she will be denied coverage??

My understanding is that some states have made it illegal to deny congenital issues as pre-existing...but which states??
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Lots of variables here.

If you're going to a large company with a group policy, you may be able to join during open enrollment with no exclusions.

Or there may be a set time under which any pre-existing condition is not covered (3 months, say, or 6 months).

It REALLY depends on the individual state insurance commissioner to set the standards and the individual companies to decide how to meet them.

It may also matter how affected your child is. CP, as you probably know, is a variable disease. Some kids need little or no extra health care. Some need lots.
If you fall more toward the "lots" you might want to condsider looking into Medicaid, under the "disabled" enrollment. This can be a better deal than regular insurance, and has no caps.  (+ info)

How is Congenital Heart Disease Genetic? Is it domminant or recessive, sex-linked ect???


I need to know as much as I can about the genetics of Congenital Heart disease. Please help!
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In most cases, the causes of congenital heart disease are unknown. Genetic and environmental factors and lifestyle habits can all be involved. The likelihood of having a child with a congenital heart disease increases if the mother or father, another child, or another relative had congenital heart disease or a family history of sudden death. In 2004, researchers identified a chromosome deletion that might explain some of the genetic causes of certain congenital heart diseases.

While only a small proportion of congenital heart lesions currently have identifiable gene markers, the number is growing rapidly. The next decade of research into congenital heart disease will see an exciting convergence of the disciplines of developmental biology, genetics and paediatric cardiology, and, we hope, will not only go further towards answering the question “Why did this happen to us?”, but also provide more secure grounds for genetic counselling and intervention.  (+ info)

Is congenital generalized Hypertrichosis a disability or an illness?


It is excessive bodily hair.
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Well, your question really revolves around definitions, so lets check the dictionary first:

disability - a physical or mental condition that limits an individual's movements senses or activities

illness - a disease or period of sickness affecting the body or mind

Since it is congenital, it would not be an illness, as it is not a disease that is caught from anything, and it is not a "period" but a lifetime. It also doesn't limit an individual's movements, senses, or activities (at least in any serious way apart from society's expectations on he or she).

Thus I would say that it is neither. It is best described as a "trait" which acknowledges that it is harmless, more like dimples than down syndrome.  (+ info)

Is there a bright future for children born with heart defects such as congenital heart disease?


Any graphs or statisics with sources would be helpful so that I can get a wider view to my research.
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My child has a heart called AV canal defect and has had 4 open heart surgeries (two of which has been mitral valve replacements) He also has severe pulmonary hypertension related to the heart defect. By looking at him you would think he is a healthy child (except he wears oxygen 24 7). He is very happy and does not let this get him down. Its been a long road because they are more prone getting sick so you cannot take them many places.
This is just my experience but my child has followed his own path.
They can have bright futures but sometimes it takes a while to get there .  (+ info)

What other abnormalities are associated with hemivertabra/congenital scoliosis?


My daughter was born in January 2006. In July of 2006 through a routine chest x-ray she was diagnosed with hemivertabra at T3 (vertabra not fully formed) and a missing rib. She saw the pediatric orthopeadic doctor 3 times. At 16 months she died of sepsis as a result of undiagnosed asplenia (absence of spleen). I am wondering if her doctor should have ordered other tests when the scoliosis was diagnosed.
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I'm so sorry to hear the news of your daughter.

I'm unaware of other conditions associated wtih congenital scoliosis. Not that there aren't any, but I've never heard of any in the groups that I read.

Take care.  (+ info)

How can stem cell research help with congenital heart disease? Can research help children already born?


My nephew was born with a hole in his heart and two defective valves. The hole was repaired with surgery. One valve was stretced to do the job. The other defective valve was left alone. The stretched valve will likely have to be replaced soon. And so will the unrepaired valve. The doctors think they will replace them with artificial valves or animal valves as he grows. With stem cell research are they thinking it may be possible to repair valves now or in the future?
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Stem cells are a special type of cells found in the embryo that can differentiate into any type of cell. Indeed there have been studies that show the possibility of heart valves created from stem cells, but i know that researchers did that on animals ans the valves did function great in vivo more than 4 months. In the future, i am almost certain that it will work form human beings as well (if it doesn't already). So definitely, stem cells can be used for valve replacement, but when and where... i don't know.
Stem cells are amazing cells! They are expected to cure cancer and any broken or lost tissues.  (+ info)

I have congenital cataracts, and I'm just wondering what percentage of the world are in the same situation?


I'm fourteen, and I have (well, had) congenital cataracts. I've had surgery on both my eyes, so now my eyesight is pretty good. I'm just wondering what percentage of the world have congenital cataracts. Is it rare, or common? Because I haven't heard of many people who are in the same situation as me.
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I am 47 and was told several years ago that I have very mild congenital cataracts. My ophthalmologist told me that because of the cataracts my eyes do not adjust well to bright lights or sunlight. I have always found bright lights and bright sun very painful, and she said that this was the reason.

http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm  (+ info)

What is this congenital skeletal anomaly called?


Well.. I saw some fragments of this documentary five or six years ago, about a certain skeletal anomaly. People who have this anomaly are all descendants of one Saudi-Arabian man. They are all able to lock both shoulders together, because they miss both collar bones.

What is this skeletal anomaly called? And what is the name of that man?

Please help me! :(
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Sounds like Osteochondrodysplasia. Or it could also be
Cleidocranial dysostosis. I am sorry, I don't know the name of the man that you are referring to.  (+ info)

Is there such a thing as congenital depression?


Can depression begin at very start of one's life? For as long as I can remember, I have been morbidly and incurably depressed.
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It's rare for depression to be found in children, but it can happen. See your doctor and/or a psychologist. You shouldn't keep feeling this way.  (+ info)

Is there anyway to test for Congenital Muscular Dystrophy?


My brother has CMD and I was just wondering if there is anyway to test if I am a carrier, since it is usually carried on the X chromosome. I'd like to have kids someday, but the fact is I really don't want to have them if they have these problems. It takes a lot of resources and we just don't have enough right now. Does anyone know if there is a test for this?
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What are some common diagnostic tests?
Studying a small piece of muscle tissue taken from an individual during a muscle biopsy can sometimes tell a physician whether a disorder is muscular dystrophy and which form of the disease it is.

In Duchenne and Becker muscular dystrophy, a muscle protein called dystrophin is either missing, deficient or abnormally formed. This protein can be examined in the muscle sample.

The reason for the flawed or deficient muscle protein is a flawed gene for dystrophin. A test that involves looking at this gene -- DNA testing -- can be done to diagnose or rule out Duchenne or Becker muscular dystrophies.

Another diagnostic test is the electromyogram (EMG). To do this test, small electrodes are put into the muscle, which allows the doctor to measure the electrical impulses coming from the muscle. The test is uncomfortable.

Another test often performed measures nerve conduction velocity (NCV). During this test, electrical impulses are sent down the nerves of the arms and legs. By measuring the speed of these impulses with electrodes placed on the skin, the doctor can determine whether the nerves are functioning normally. This test is also uncomfortable.

Blood enzyme tests are helpful because degenerating muscles become "leaky." They leak enzymes (proteins that speed chemical reactions), which can then be detected in the blood. The presence of these enzymes in the blood at higher than normal levels may be a sign of muscular dystrophy. One such enzyme is creatine kinase, or CK.The CK level is elevated in many forms of muscular dystrophy, some forms resulting in a higher level than others.  (+ info)

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