oliviasmomma
07-20-2006, 03:04 PM
I alluded to this in an earlier thread, but our DD has a metabolic disorder that was detected in her newborn screen. I am usually not much of a worrywart about things like rare diseases--we didn't do any of the prenatal testing for down's, cycstic fibrosis, etc--and I wouldn't advise anyone else to be too stressed either. Yet, I came across this article, and since everyone here has been so helpful to me and my various questions, I feel it is so important to pass this on. (I posted about this in another forum on this website, but judging by the lack of activity on that board I don't think it gets much traffic.) Anyway, the following article has information about newborn screening and which states test for what.
http://www.marchofdimes.com/aboutus/15796_20475.asp
If your state does not do much of the testing, you can order the tests on your own--the entire batch of 29 costs 20-100 dollars. The thing about these metabolic disorders is that they are often fatal unless diagnosed. Once diagnosed, they are highly and often easily treatable. Children with the disorders often go without any symptoms until it is too late. Because the disorders are pretty rare, and not widely understood, children who experience a crisis are often misdiagnosed and mistreated. For example, my daughter has a disorder called MCAD. She cannot metabolize fats, so as a result, she must rely on the glucose in her bloodstream for energy rather than on her fat stores. What this means is that she cannot fast for very long--during the day she eats something every 3-4 hours and we wake her at night for feedings. When she has stomach flu, she has to have IV glucose administered until she can keep foods down. If we did not know about her disorder and she had the flu, we would treat her like everyone else does--try to get her to sip some fluids, mostly not worry too much about it, let her sleep & rest for a while, etc. MCAD kids often die because of this treatment--they die unecessarily because a simple glucose iv saves their life! Of course, it is not standard procedure to give iv's to kids with the flu, so the doctors are not doing anything wrong--but they don't know how to treat it if they don't know the disorder exists.
Anyway, I know this is long and a little rambling, but after reading many stories about kids with metabolic disorders who don't make it, I am both grateful our daughter was diagnosed and on a mission to make sure that all children receive this testing. It is cheap, it saves lives, and makes a huge difference!
**Edited to add a link that works!
http://www.marchofdimes.com/aboutus/15796_20475.asp
If your state does not do much of the testing, you can order the tests on your own--the entire batch of 29 costs 20-100 dollars. The thing about these metabolic disorders is that they are often fatal unless diagnosed. Once diagnosed, they are highly and often easily treatable. Children with the disorders often go without any symptoms until it is too late. Because the disorders are pretty rare, and not widely understood, children who experience a crisis are often misdiagnosed and mistreated. For example, my daughter has a disorder called MCAD. She cannot metabolize fats, so as a result, she must rely on the glucose in her bloodstream for energy rather than on her fat stores. What this means is that she cannot fast for very long--during the day she eats something every 3-4 hours and we wake her at night for feedings. When she has stomach flu, she has to have IV glucose administered until she can keep foods down. If we did not know about her disorder and she had the flu, we would treat her like everyone else does--try to get her to sip some fluids, mostly not worry too much about it, let her sleep & rest for a while, etc. MCAD kids often die because of this treatment--they die unecessarily because a simple glucose iv saves their life! Of course, it is not standard procedure to give iv's to kids with the flu, so the doctors are not doing anything wrong--but they don't know how to treat it if they don't know the disorder exists.
Anyway, I know this is long and a little rambling, but after reading many stories about kids with metabolic disorders who don't make it, I am both grateful our daughter was diagnosed and on a mission to make sure that all children receive this testing. It is cheap, it saves lives, and makes a huge difference!
**Edited to add a link that works!