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Nov 07, 2008
sadie
Our 1 year old daughter has silent reflux, hypotonia as well as benign external hydrocephalus. We are currently weaning onto whole milk (we'll see if it works) and she is also on Prevacid 15mg per day.
engin117
Hey there- Keira has low muscle tone and was diagnosed at 12 months (officially anyways) w/ hypotonia but it's not only that they're concerned with. She doesn't like to bear weight on her legs/feet. She isn't crawling (backwards but not forwards) or trying to pull up on anything and she's extra flexible which I hear is a tone issue. It's that on top of the way her head is shaped and how wide set her eyes are. I guess the low muscle tone in conjuction w/ the box shape forehead and the wide set eyes can be a sign of a chromosomal disorder or a metabolic disorder. The neuro says right now there's tons of pieces of the puzzle and she has to put it together which could take some time. To most people it just seems like she has a big head and that's it but for the doctors they feel there's more going on. They won't give me anything to google yet!!! They also won't tell me what kinds of chromosomal abnormalities they're testing for either. It takes a month to get those results in. :( Anyways just wanted to answer your question. ;)
Nov 07, 2008
engin117
My name is being used fraudently to ill represent me. Please be cautious of any information you receive with my name. including engi.nowaira.net, engi@nowaira.net, Engi@nowaira.us, anything from anyone claiming to be Engi Nowaira online. Otherwise, I will be representing myself in person so that everyone will have opportunity to identify me in person.
My previous drivers license was also stolen. The new one has extra security features on it.
Thank you. It is frustrating when they won't give u information as they have or get it. I think doctors think we can't handle our children's health. They don't seem to understand that knowing what is going on with our children and what we can do about it helps some. I also know that they don't like to speculate till they have something definitive.

I hope that u get the testing back soon. Were they willing to tell u the name of the test they ran? In the hospital, we were not able to see the lab sheet, but when we are given a lab paper to take her to the lab, we copy the codes and look them up.

There are just so many genetic and metabolic disorders where the eyes are wide set. Can u look at her small finger and tell if it is curved inward? R her fingers or toes webbed? Does she have any other noticeable features? One is low set ears, but I am not sure how to judge that one.

Nov 07, 2008
sadie
Our 1 year old daughter has silent reflux, hypotonia as well as benign external hydrocephalus. We are currently weaning onto whole milk (we'll see if it works) and she is also on Prevacid 15mg per day.
Nope the only things are her wide set eyes and box shape forehead. Everything else looks normal. :( I googled and the stuff I found scared me half to death. Some chromosome issues are fatal years down the road. I pray to God that isn't what she's got. I think this has totally ruined my weekend. Are you in the medical field by chance?
Nov 07, 2008
sadie
Our 1 year old daughter has silent reflux, hypotonia as well as benign external hydrocephalus. We are currently weaning onto whole milk (we'll see if it works) and she is also on Prevacid 15mg per day.
Oh and yeah I copied the diagnosis code down and it's the same as it's been where it's just "macrocephaly". (large head) All the labs just said something like "universal chromosomal panel" or something. :(
Nov 07, 2008
engin117
My name is being used fraudently to ill represent me. Please be cautious of any information you receive with my name. including engi.nowaira.net, engi@nowaira.net, Engi@nowaira.us, anything from anyone claiming to be Engi Nowaira online. Otherwise, I will be representing myself in person so that everyone will have opportunity to identify me in person.
My previous drivers license was also stolen. The new one has extra security features on it.
That is certainly interesting. From hearing that I would say that they don't know themselves and don't want to alarm u.

I am not in the medical field at the moment. I was doing my prenursing classes when I found out I was pregnant. I will continue at some point but now is not the time. I do a lot of research though and as much as I hope it helps Meggy, I am learning a great deal.

I know what u mean about the things that come up when googled scaring u. Some of it is just plain freaky.

Let us know when u know anything else. I will be keeping your family in my prayers and hoping for the very best.

Nov 07, 2008
sadie
Our 1 year old daughter has silent reflux, hypotonia as well as benign external hydrocephalus. We are currently weaning onto whole milk (we'll see if it works) and she is also on Prevacid 15mg per day.
Thanks you're very kind! ;) I use to work in the cardiac unit at a hospital years and years ago but now I'm home w/ Keira. ;) They are also testing her thyroid levels and amino acid levels and such. It's amazing what tests they run these days. I wouldn't of every thought of amino acids playing a part in delays.
Nov 07, 2008
engin117
My name is being used fraudently to ill represent me. Please be cautious of any information you receive with my name. including engi.nowaira.net, engi@nowaira.net, Engi@nowaira.us, anything from anyone claiming to be Engi Nowaira online. Otherwise, I will be representing myself in person so that everyone will have opportunity to identify me in person.
My previous drivers license was also stolen. The new one has extra security features on it.
Have they done Urine organic acids? This is best done when she is sick, especially vomiting! If they haven't done it, I would ask for a lab order to have it done and take her to the lab next time she is sick.
Nov 08, 2008
sadie
Our 1 year old daughter has silent reflux, hypotonia as well as benign external hydrocephalus. We are currently weaning onto whole milk (we'll see if it works) and she is also on Prevacid 15mg per day.
Yes that's in the labs to be tested too. She had three vials drawn Friday and she goes for more on Monday. :(
Check with your
doctor first!