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  1. #11
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    Thank you all so much. I'm just sitting here in disbelief as I just had no idea and was not expecting any of this! Ive stopped crying now finally and have calmed down a bit. Have called mum on both sides (my partner has 11 siblings!) and they both said they have never thought anything or saw something unusual with her. No family history. I'm just in shock, it wouldn't change anything of course if something was found to be abnormal but I guess I just started over thinking her future etc. had me in a state. I'm going to book the appt with the pead just for reassurance, but she was only there two weeks ago for croop and nothing was said unless they thought I already knew? Oh gosh I'm just dredding work and telling my partner when he comes home. Thank you all so much for your support and words of encouragement. It's really settled me down.

  2. #12
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    Quote Originally Posted by btmac View Post
    What an adorable bub! I know it is really hard not to stress but GP's often like to cover their backs. We were referred to a paediatric cardiologist after DS2's 12 month check up. He apparently had a heart murmur. The cardiologist couldn't find anything!
    How scary for you! I'm so glad your little man is ok.. It's just so unexpected isn't it when they tell you something's like this out of the blue

  3. The Following User Says Thank You to XmasDayBub For This Useful Post:

    btmacxxx  (24-07-2014)

  4. #13
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    Quote Originally Posted by crankyoldcow View Post
    It's hard not to worry, when a GP has given you something to worry about.

    All I can see is a very cute baby with a gorgeous smile.

    **disclaimer I am not a doctor ** FWIW - I've had to take my DD to geneticists because of a known problem. I can't see anything from your pictures that looks like any dysmorphic features the geneticist found on my DD eg my DD has an uneven chest, curved little fingers, a wide space between her first and second toes. Your DDs ears also look very normal (ie not lowset).

    In addition, my eyes are a similar shape to your DDs and I do not have any genetic disorder (that know of).
    Thank you very much for sharing your experience. I really appreciate your opinion. I can't see anything as you have described. Can't thank you all enough as I am not educated with anything like this

  5. #14
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    Tantam.. Her eyes are a little wide spread in some photos but I have also been told the profile of her face would be 'flat' I guess you would put it and little definition in her cheeks which I can't see her nose is a little snubby but mine is too. May I ask if your daughters' disorder limited her physical abilities like crawling etc or was she on track? And I'd they find that a link? Thank you for talking openly with your reply I really appreciated it.

  6. #15
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    Like some of the PP I have had my children referred to the ped when there was nothing wrong ...they just weren't on the "right" part of the scale (not even on the scale actually...) & the GP was covering all possibilities. I took them but they were all 100% healthy...just very much took after me & my family who are all VERY slight build. Also a lady in my playgroup (over 10 years ago now) was referred to the specialist as her baby's head was HUGE & they thought there could be something wrong. Nope - just a baby with a huge head...& as the mother pointed out - her head was huge too but because it was covered in hair & she had a fringe etc etc to disguise it, it just wasn't that obvious.

  7. #16
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    Prefacing by saying I'm not a medical professional, but she looks perfectly healthy to me

    We've had so many scares along the way with dd2 and it's hard not to stress, but I have learnt to put it to the back of my mind until we have it confirmed/cleared by a specialist.... you aren't going to get any further ahead by stressing yourself out for possibly nothing.

    Book the paeds appointment and forget about it until you're there. Good luck!

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    giggle berry  (23-07-2014),Tamtam  (23-07-2014)

  9. #17
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    Quote Originally Posted by XmasDayBub View Post
    Tantam.. Her eyes are a little wide spread in some photos but I have also been told the profile of her face would be 'flat' I guess you would put it and little definition in her cheeks which I can't see her nose is a little snubby but mine is too. May I ask if your daughters' disorder limited her physical abilities like crawling etc or was she on track? And I'd they find that a link? Thank you for talking openly with your reply I really appreciated it.
    Hi. I'm more than happy to talk. My DD has Smith-Lemli-Opitz syndrome. It did affect her physical abilities. She crawled late.. And is yet to walk unaided at 19 months. She has low muscle tone and some other issues. Plus a small head... Which is one of the things the paed noticed and mentioned. She's also has webbed toes. For her she seems to be on the mild end of the syndrome. And some drs still don't 'see' it on her facial features. I'll try uploading a pic food you. Her nasal bridge is quite flat. Profile View you can see she's has a little upturned nose. And some photos her eyes look fairly normal. ... And others I think it's quite obvious.
    So you see. ..I think there is often many other things going on. .. Not just the eyes if you get what I mean.
    Before her diagnosis I used to sit and study and her face and eyes. .. For hours... trying to see what the geneticists saw! Drove me nuts.
    The paediatrician.. If you've already seen one I would think would mention something. But going and getting your concerns addressed will give you peace of mind I think.


    ETA. .. I guess I'm just trying to say that although I know it's stressful. ..I would be freaking too....From what you've said there are no other reasons to think there is a genetic abnormality. So book your apt with the paed and hopefully they will help clear it all up for you. xo

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    Last edited by Tamtam; 23-07-2014 at 12:29.

  10. #18
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    Although you are super worried, be thankful you have a thorough GP. I know it's hard and scary, but it is great to be safer than sorry. My Gp noticed my newby had click hips, something the hospital didn't pick up. On further investigation she did in fact have DDH and required splinting for a while. I'm thankful to her for being thorough and investigating something she thought wasn't quite right.
    In saying that, my daughter has almond upturned eyes. Had my partner not had the exact same eyes, I'd have definitely been concerned. They are both perfectly normal and healthy people. My daughters eyes are far more almond than your gorgeous girls eyes.


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    Last edited by LotusMum; 23-07-2014 at 12:42.

  11. #19
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    Oh tamtam your little girl is just gorgeous! The last pic made me melt! As you say I am another who cannot detect anything abnormal about your daughters facial features. She looks to be concentrating, smiling and being cheeky with her dummy. She looks perfect. This is what I guess is in the back of my mind about everyone saying she looks typical. The only thing I'm not sure about is she has never had poor muscle tone or anything.. All of her development is on track, she's crawling! It just seems so out of place just because of the shape of her eyes.

  12. #20
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    Thanks everyone I really appreciate your experiences xx


 

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