Posted by Cheryl on 3/9/2009, 9:21 pm, in reply to "Diagnosis of Pierre Robin"
99.225.170.234
Hi Ellie,
I do not live in the UK presently, but did live in London for a few years and remember hearing wonderful things about the Great Ormond Street Children's Hospital. I have added the link to their site http://www.ich.ucl.ac.uk/. Do you have a craniofacial (or other medical)team looking after your son? Some of the physical attributes you describe are associated with Pierre Robin Sequence, but it does sound like he may have more 'stuff' going on, as Angela suggested. A craniofacial team or geneticist should be able provide some answers to your questions and/or point you in the right direction. My son just turned one as well. He has PRS and suspected Sticklers (we are waiting for the results of blood work to confirm/rule out this syndrome). As of yet we have not noticed other developmental delays, but he does see an Occupational Therapist to monitor his development and he will start speech therapy in the coming weeks. If you are concerned with his level of communication you should arrange for him to see a speech therapist or someone else work with him.
For the first few months of my son's life his breathing was very 'rattly' as well, especially when congested from a cold. My son had several overnight oximetry tests run, along with sleep studies to measure his overnight oxygen saturation levels and to see if he had constructive sleep apnea. You may want to have a sleep study if you are concerned with your son's breathing. Good luck with everything and I hope you find the answers you are looking for.
Cheryl
--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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