Need advice regarding unkown syndrome!

[yummum19]

Hi all, this is my first post so bear with :)
My DD is 4months and was born with a deformed right arm. She had a hypoplastic thumb which has now been removed and an absent radius. (Basically her hand is on the end of her elbow)

She also has a sacral dimple which we are currently waiting for a referral so that can be examined further.

At her 6 week check they also picked up she has a VSD and a severely anterior anus which is causing her alot of trouble! She was born with nystagmus in her eyes constantly but has since only become apparent when she focuses on things.

We are also waiting for a kidney scan as her Dr thinks she may have some problems there.

So far no one can tell me whether she has a syndrome of some type and whether these abnormalities are all linked. Just wanted to see whether any of you mums out there have come across this and can shed some light? I feel somewhat hopeless!

Congratulations on your gorgeous girl!!

I haven't come across what you describe but our son has down syndrome and had an AVSD repair when he was 7 months old. What I have learnt is that it probably doesn't make any difference if your child has a syndrome or not. All of us have a little something going on, some more than others and as long as you get each little something seen and checked, then it shouldn't make any difference really. I think I'm possibly on the other end of the scale in that the Drs say 'well that's down syndrome for you' if we take him in for anything, whereas i say 'well it may be or may not be - I know plenty of other typical kids with the same complaints so may be it's just a human issue.'

I would just enjoy your girl, go with the flow and the zillions of appointments and things will calm down and slow down and then you can decide which appointments are necessary and which ones you can push back for a little longer.

It's all very stressful, I know!!!! Feel free to PM me if I can be of any help at all xxxxxx