Posted by Angela
on 3/9/2009, 5:34 pm, in reply to "Diagnosis of Pierre Robin"
173.54.57.225
Hmmm....this is tough. My first reaction is that yes he may have PRS, but in conjunction with another syndrome. While certain traits you've described could be signs of PRS (the micrognathia, the palate issues, the tongue balling), there are others that I'm not sure I'd lump in as PRS symptoms. How long ago was his swallow study?? The way you describe him as being mucousy, rattly, gurgly is a concern. Perhaps the "disorganization during feeding" has gotten worse and he is aspirating. Certainly that could explain the frequent coughs, chest infections and colds. I think I'd start with another swallow study -- just to rule that out. Continued oral feeding if he isn't able, or is having trouble can cause long term damage and you'd want to find out right away if that's the case.
Another thing I'd do is research a geneticist in the UK. Surely there is someone who'd be willing to do testing and merely see your son. Sometimes a physical look at the child can tell lots to the right person.
At this point, I don't think I'd be satisfied with a tentative diagnosis. My daughter has PRS with Sticklers, but no other physical issues, and no developmental issues. A geneticist will be able to better help, or point you in the right direction. Best of luck and let us know what happens.
Angela
--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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