Posted by Ellie
on 3/9/2009, 4:30 pm
92.3.190.50
Hi, we are hoping to get some advice! Our son is now almost a year old and has just been given a very tenuous diagnosis of Pierre Robin Sequence by his consultant. I was wondering if anyone had any thoughts on whether or not this is likely to be accurate.
He has micrognathia and a high arched palette and has been checked for a sub-mucous cleft but none was found. It is difficult to say if his tongue balls as it is hard to see into his mouth as he does not open this much, but although his breathing is very noisy and rattly, he does not usually struggle to breathe. He has had feeding difficulties since birth and for the first few months, feeds were taking over an hour with frequent coughing and choking episodes. He had a barium swallow test when he was 4 months old which showed a disorganised feeding pattern with milk going into his windpipe and up his nose but nothing else significant.
He will be a year old next week and has only just in the last week started sitting almost independently and rolling. He also does not give a full smile or appear to have much mouth movement when being fed solids (he now takes these reasonably well with small lumps but it has taken a lot of hard work to get to this stage) He is also not really making any sounds except for a moan and excited squeal.
Other observations that have been noted are that he has prominent, misaligned ears (he has middle ear blockages in both) and a dimple in the back of his head. He has a tendency to keep his fists closed and often curls his hands and arms outwards.
He is constantly mucousy and rattly, often with a gargling sound and seems to have very frequent coughs, colds and chest infections (He was in hospital for 10 days when 3 weeks old with bronchiolitis which he was given oxygen and tube feeds for.)
Does this sound familiar to any of you? Looking through the message board, it is clear that these are very mild symptoms in comparison, but we are becoming increasingly frustrated at how difficult is to get a proper diagnosis. Does anyone have any advice on how we can get some clear answers? (We live in the UK)
Thanks!
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