Posted by ellie
on 3/28/2009, 3:55 pm, in reply to "Diagnosis of Pierre Robin"
92.3.190.50
Many thanks for the replies. It is fantastic to be able to get advice from the REAL experts on PRS - those of you who are dealing with it on a daily basis!
The good news is, that our son has recently been referred to a geneticist, so we are hoping (once we finally get the appointment) that they will be able to make an informed diagnosis and also rule out any other genetic conditions that he may or may not have. He has also been referred to the ENT clinic, which may also be able to give us some more insights.
Looking back at photos, it is incredible how much his chin has grown already, so we are hopeful that it will continue to catch up. He is also becoming a lot more aware now that he is sitting up properly and we are hoping that he will just continue to develop at his own pace. The first few months when things were at their worst and we had no idea what the problem was now seem a very long way back and things have got so much easier since then.
We will let you know what is said at his appointments. Thanks for your time and good luck with your own little ones!
--Previous Message--
: 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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