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Geneticist appointment was today

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Hi all. Summer had her appointment with the geneticist today. He is

very convinced that she is copying Autumn. Their growth charts are

practically identical and Summer's head growth is just .5 cm below

where Autumn's was at this age, and Autumn was born with it .5 cm

bigger, so it is even identical head growth. He didn't see and

length assymetry of Summer and didn't measure for any, but she does

have her rt leg thicker than her left. He wants to keep an eye on

that and even said that in the future that could help with a

diagnosis of RSS because of the assymetry....sound right? When he

saw Autumn for the first time, he instantly said she looks RSS, but

Summer doesn't strike him so with any triangularity like Autumn, and

it is really weird, Summer is same weight/ length that Autumn was at

this age but she looks kind of chunky... not her belly but her cheeks

and legs (one has a roll, the other has 4!!!!!) Autumn looked much

thinner. It's kind of funny, becase he said looking at her charts and

low weight/length, then looking at her, she looks chunkier than you

would think. I remember her being born IUGR and stick arms, no

belly...etc, but the girl had cheeks and thighs even at 4lbs 13 oz,

the nurses all commented on it! Go figure. Cheeks run in our

family, even Autumn, they are last to go with weight loss and first

to come with gain...Ok, back to the appt. I also gave the doc the

article on the findings of RSS and chromosome 11. He was very

intersted in it and is planning on contacting them and looking into a

test the hospital has. He said this test currently exsists for large

children and the findings for RSS was the flip side of it and he will

see if they can do it under special circumstances for him. He said

he would want Autumn to have it done because she is more typical RSS.

He doesn't even want to try the upd7 test because Autumn is not and

he thinks they ahve the same issue. He is fairly sure that there is

some sort of issue with the genetic imprinting that caused

Autumn to have this and Summer, and he doesnt' know why, but it seems

to be RSS. As for Summer though, again, she doesnt' have

triangularity, can that still be RSS??? He said it can... Anyways,

she has the incurved 5th finger, current thickness assymetry, reflux,

growth under 3rd with IUGR and some others I don't remember. I had

identical pregnancies, both with tiny little heads at birth (said to

be more genetic than nutritional caused) and both their heads caught

up although Summers is a little slower but apparetnly is climbing up

the charts so far, but nothing else is. I told them how concerned I

am at this 6 mos mark becasue that is when everything happens. Autumn

fell further and further aways weight wise from teh charts to a

plateau, my oldest although not RSS, fell down below charts then

after a year or 2 moved up to below the 3rd %, and now I am very

worried about Summer. Ocean, my 3 yr old, is the only one I have had

no growth issues with. He likes to eat, maintains his growth, and

although dropped some in %'s from baby fat to little boy, he is doing

well and in range for parental height. my biggest concern is if

Summer is going to get sick like Autumn did/does and have her weight

issues and health issues the same. I know and the docs have said she

is different and may not, and logically I understand, but I have been

told during the pregnancy and before that usually just one child has

issues like this and that is because it a 1 in some huge number

chance. Now, I can handle the issues, but I would hate to see

another child of mine go through what Autumn has this year.

The geneticist is so convinced it is the same issue that he didn't

even order bloodwork or anything because he doesnt' see any reason

to, although my ped will order some most likely. I also hope nothing

gets missed because he assumes it is like Autumn.

Also, they don't toss around the RSS diagnosis and have told me that

they only know of one family with 2 diagnosed becasue it is not

typical, but I wonder if they were similar with looks like

triangularity, assymetry, etc. Autumn has no assymetry noticed,

Summer does. Autumn has triagularity, Summer doesn't seem to....this

is just plain weird to me. tHe doc wants to follow Summer, track her

growth, weight, assymetry and won't do any official diagnosis for a

while because will monitor Summer and track her just liek he did with

Autumn. He wants me to talk to GI and kind of prepare them for

possible issues and get ideas on high fat foods that are milk free

because Summer gets hives and swells with contact. Summer's

wieght/length is good now but the 6mos mark has come and gone. She

has not gained any weight in 3 weeks now, but she has had a stuffy

nose...

Anyone else have this happen?????

mom to Autumn, Summer, Ocean, Skye

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