This is kind of a weird question but

Here goes anyways lol...

My dd is coming up on 6m on the 4th of August. We have an appointment on October 30th with genetics.

So some back story on Chloe.
In all my ultrasounds they found a spot on her heart that never went away. When I was about 30 weeks we got sent to Sick Kids Hospital in T.O for a fetal echo, what they saw was apparently nothing that seemed to affect her heart.

On that trip we also went and met with genetics to talk about the percentage of her having Down Syndrome. I opted out of the amnio testing for it due to the risks ( I was not comfortable with it) and it did not matter either way she was still going to be loved the same.

I was prepared to care for her if she was born with Down Syndrome.
So When i had her on Feb 4th she was taken to the NICU right away (6 hrs before I got to meet her)  
The Dr's said we were in the clear of her having Down Syndrome. But she was born with Choanal Atresia..small nasal passages (she can not breath through her nose) she has a displaced anus as well as a small top pallete. Apparently nothing wrong with her heart at all.

So fast forward to now...like I said she will be 6m soon. She was born at 7lbs 8oz and 21 inches long. She is now only 10lbs 8oz and 22 inches long. And under the third percentile.
They are thinking she may have a growth dissorder, cause she is not growing at all (only a little bit at a time)

So this is my weird question...I am posting some pics of her, do you see any facial features that comply with any known dissorders? They said before they test her they look at her face and hands feet to see any common features with any dissorders.

Sorry for the long story I just thought it would make it easier to know what I am talking about....
5weeks

2 months old

3months

4months

5months



This has me so worried I am having a hard time sleeping the appointment is coming up so close now. IDK...

They also think she may not be growing due to her not being able to breath through her nose..that she maybe burning more calories then she is getting, cause she has to work hard to breath makes scense...I guess.
Everyone around me says they believe she is just small and not to worry about it, but its hard not too. Do you see anything at all in features???

I don't have an answer but I just wanted to say Shea beautiful  

Quoting Elliot Grace's Mommy :" I don't have an answer but I just wanted to say Shea beautiful  "

I agree. She's so pretty!

Maybe a little bit like progeria in the 2 months picture. It was the first thing that came to mind for me. But it's probably just because she has big eyes  


But idk about the symptoms for it.

She's a cutie pie   with lots of hair lol

Edit: but looking at the pictures again, at 5 months I don't see it at all.

I don't know anything about your question, but she's so cute! Lol

Quoting Elliot Grace's Mommy :" I don't have an answer but I just wanted to say Shea beautiful  "

Thank you! I was never worried about it till the past few weeks, it just kinda snuck up on me now I am constantly looking for some kind of clue to whats going on with her.

<blockquote><b>Quoting The Inconspicuous Raccoon:</b>" Maybe a little bit like progeria in the 2 months picture. It was the first thing that came to mind for ... [snip!] ... it's probably just because she has big eyes   But idk about the symptoms for it. She's a cutie pie   with lots of hair lol"</blockquote>



I thought this too but I think it's just those big beautiful eyes! Progeria is pretty easy to diagnosis most of the time

Quoting The Inconspicuous Raccoon:" Maybe a little bit like progeria in the 2 months picture. It was the first thing that came to mind for ... [snip!] ... it. She's a cutie pie   with lots of hair lol Edit: but looking at the pictures again, at 5 months I don't see it at all."

I once thought this too. But it does not fit except for the lack of growth in the first year..babies with it have extremly large heads her is normal lol and their faces are wrinkled and have very thin skin lol

I am thinking Charge syndrome....but I am not sure if her face in un-symetrical or not....

<blockquote><b>Quoting Coupon Lady:</b>" I once thought this too. But it does not fit except for the lack of growth in the first year..babies ... [snip!] ... and have very thin skin lol I am thinking Charge syndrome....but I am not sure if her face in un-symetrical or not...."</blockquote>




I just goggles charge syndrome and it could be she seems to be showing some symptoms of it... Has the doctor ever mentioned it?

<blockquote><b>Quoting **mummyX2**:</b>" <blockquote><b>Quoting Coupon Lady:</b>" I once thought this too. But it does not ... [snip!] ... I just goggles charge syndrome and it could be she seems to be showing some symptoms of it... Has the doctor ever mentioned it?"</blockquote>




I brought it up with the Dr...although the medical signs are there the physical features are not according to them at sick kids. So IDK....but I wonder if some cases are more milder then others Kwim? Like in physical features.

<blockquote><b>Quoting Coupon Lady:</b>" <blockquote><b>Quoting **mummyX2**:</b>" <blockquote><b>Quoting Coupon ... [snip!] ... to them at sick kids. So IDK....but I wonder if some cases are more milder then others Kwim? Like in physical features."</blockquote>



I just goggles the images of charge I get one you mean she doesn't have any of the physical features at all... I suppose it's not possible to have Just the medical aspects of a disorder!
My brother had Edwards syndrome which is something different all together but there is a mosaic version which is less severe. Is it possible that charge syndrome has a mosaic version that might be less prominent physically? I wish I could help I'm sure the doctors will figure it out but if your not happy with what they come up with you could always get a second opinion.

http://www.sense.org.uk/Resources/Sense/What%20is%20Deafblindness/The_genetics_of_CHARGE_family_weekend_handout_WORKSHOP_1.pdf

One if the charts in here suggests that only 66% of people with charge have facial palsy, good luck with the doctor tho hopefully they have some answers

Quoting **mummyX2**:" http://www.sense.org.uk/Resources/Sense/What%20is%20Deafblindness/The_genetics_of_CHARGE_family_weekend_handout_WORKSHOP_1.pdf ... [snip!] ... suggests that only 66% of people with charge have facial palsy, good luck with the doctor tho hopefully they have some answers"

OMG...Thank you so much for finding this for me..I have searched high and low for this kind of info and had no luck what-so-ever lol I kept getting a very vague description on the disorder.

Thank you thank tou thank you. lol

Ask them to do chromosome testing further doing the FISH studies and micro array. if she has any disorder they will find it for sure that way.

<blockquote><b>Quoting Heather[AJB]+1 DIVA:</b>" Ask them to do chromosome testing further doing the FISH studies and micro array. if she has any disorder they will find it for sure that way."</blockquote>




Ya she is being tested but not till she around 1 yr old....we meet with Genetics in Oct..but just for them to look at her head to toe. And look over her medical reports.

Then if they don't see physical features they book for testing. Iam kinda mad at myself for not doing it when I had the options in pregnancy but I didn't like the risks. I so far along in pregnancy and if something happened and I lost her it would have been worse Kwim?