Pierre Robin syndrome and Cystic fibrosis

[nathollyandmatthew]

does anyone have any experinces of this

matthew is due a sweat test nxt week to rule out CF as he has alot of probs with his chest and weight issues

also was mentioned that the paed feels matthew has a conditon called pierre robin syndrome jsut wodering if anyone has an experince of this
we r due to see the gentics at great ormond street soon so will know more then

thansk
natalie and matthew 16 months

thanks hun yeh its been a tough time, what with the apnea, reflux etc but hopefully soon we will get him sorted and he will b test free

love nat

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I think sleepyjess has a ds with CF.

My son had sweat test for same reason as yours but result was neg.

No experience of pierre robin.

Hope you get some answers.

thanks ladies, hes really ill at the mo with another horrid cough and high temp and now the runs, so we r bk to the docs later hes also wheezing
i hope the CF test comes bk ok, such a worrying thing to go through

bump about the PRS

Hello.. yes.. I have a 13 y/old DH with CF.

I know nothing about pierre robin syndrome tho. Will google it. I have never heard of it and I am obsessed with syndromes due to having an undiagnosed 5 y/old DS with 'some kind of cp'..

How long has Matthew had these weight and chest issues NHAM?

What are his poos like? (appearance/consistencycolour/smell.. sorry!!!) When you kiss him does he taste salty? Try licking his head (odd.. but humour me ).. does he taste extra salty then?

Good luck with the sweat test.. it's not painful, and not too bad at all as tests go.. they will stimulate him to sweat more by placing little pads with a chemical on them in certain areas of his body.. and then collect/measure the sweat obtained. All children with CF (regardless of the type of CF, genes-wise) sweat far more than is normal so it's a pretty reliable test. It's because the sodium can't travel across the cells (faulty receptor called CFTR.. cystic fibrosis transmembrane-conductdance regulator.. as sodium does cross in cells in non-cf people.. and that's what causes ALL the problems in CF with the various organs it affects..) but time enough to consider that IF you have to.. and if you have to, it's not all doom and gloom. My DS was diagnosed at 5 and a half weeks - so very obvious, common type of CF - but is a big, strapping, alternately stroppy/lovely, gorgeous thirteen year old with a 100% attandence record at school in recent years, and girls chasing him left right and centre... scary!!! )

Good luck.. keep us posted..

SJ x

DS not DH!! (My DH is NOT 13!!!! And does not have CF!)

DS2 was suspected of having pierre robin syndrome - he was born with a cleft palate and very small lower jaw. It was something they (medical team looking after DS2 when he was tiny) never decided on. He did have trouble breathing and his tongue did appear too big for his mouth. I gathered it was not something they were that bothered about, and ds2 was treated for the cleft palate when he was abouth 10 months. He's just two now and his jaw is normal size, tounge fits back in - just waiting for him to talk and all will be well.
What makes them think your DS has pierre Robin Syndrome?

wow thnaks ladies for the info
matthew has had probs since he was 6-7 months old, 6 months he got broncitis and has had probs since, hes on steroid inhaler and salbutamol which dont work, when he gets ill it goes staright to his chest, the only thing which will shift his chest probs is steroid tablets which is abit of a concern
hes weight has suffered since feb at 7 months old he was a masssive 17lb 8oz, born on 50th centile 1 month early and stayed on the 50th centile, then dropped to the 2nd and has stayed there or just above since, he did have a good weight spell in august-sept and climbed to the 25th but is now sitting just a dot away fro the 2nd again
hes now 16 months old, and weighed 20lb 15oz which may sound good to some but considering he was 17lb 8oz at 7 months old its not good

he had a motnh of the runs and was then confirmed he had a dairy allergy and since then hes poos have been ok, some times a bit smelly and some days he does do alot of poos

never noticed the salt taste though, hes sleeping at the mo so cant lick him lol
i hve been on and on at his paed since hes weight prob and chest was a prob and was once again not listsned to
he is classed as failure to thrive, has alot of health probs, reflux, cnetral sleep apnea, asthma but to young to make full dx, dairy allergy, prob with swallowing, hes due alot more tests when we nxt go bk to great ormond street

with regards to the PRS, every doc we have seen says matthew has a small chin, i have never notiched it myself, but i was getting abit concerned as when we was in GOSH last month they wanted matthew to be seen by genetics, so i asked the paed on wed, and he didnt wnat to say but he then mentioned this PRS and said this is y great ormond st want him seen by genetics, he looked inside hubbys mouth and he had a high palate, and he thinks matthew gets most of his probs from his dad
thnaks so mcuh for replying means alot to me
natalie

Hi again NHAM

I think he does need a sweat test.. his symptoms would suggest this is a good idea IMHO.. but that is because I know the CF is one of the last things they test for and sue to this so many get children diagnosed later than they need have been.. But this doesn't mean, obviously, that I think he definitely has it (for what my opinion is worth obv.. I'm just a mum!.. with a bugbear about the fact that CF ought to be incorporated into the heelpricks after birth.. which is starting to happen slowly..)

Has he been tested for ceoliac disease? This is another dietary thing (congentital intolerence to wheat/gluten) because his symptoms do sound very much food-intolerence connected... possibly more than just dairy-intolerence. I used to work with someone with coeliac disease and she described how she was as a baby.. and she presented very much as my DS did before he was diagnosed with CF!

The sweat test anyway, will tell you one way or the other re CF.

Wishing you lots of luck for a positive outcome.

From the sounds of it if your son does have PRS then it hasn't been too severe or a major factor in his development. It affects newborns more than bigger babies as the jaw is too small and causes breathing and feeding difficulties. From what you say, your son thrived when younger.
PRS should cause less problems as they grow, sometimes operations might be needed to move the jaw and stimulate growth in that area, and perhaps an op to close the palate.

Smelly and frequent poos are indicitive of food intolerance. I think you may get more answers from the sweat test than the genetetist - although CF is genetic as well I think.

DS2 was tested for CF at birth - I thought this was standard?

NHAM - although he's not gaining weight and has dropped percentiles - he is still a healthy weight for 16 months. Try not to worry too much and concentrate on getting a diagnosis. Best wishes

It sounds as though your doctors are a bit muddled to be honest- CF is completely genetic but PRS is not thought to be. Doesn't mean it never is, though.

eefs, I haven't come across any newborn screening programs for CF. They test mothers for carrier status in Edinburgh but this isn't done in all areas of the UK. If your ds was tested I would havehtought it would only be because of family history or something?

my dd has Noonan syndrome which was dx'd young, know very much how you're feeling
GOS are awesome as are St Georges for genetics
I diagnosis will make things a lot easier, like sleepjess I am also dead keen on syndromes and had a google
Try contact a family to see if they have anyone else with the condition or google to perhaps to try to find a support group, we found one in the states and it changed our life.
Sorry rushing got to pick up ds from school eeeks must wake dd NOW
Will come back leter
xxxxxxx

Eefs... CF is a purely genetic condition (1 in 25 people carry a cf gene.. a cf child can only be born to TWO carriers and when 2 carriers have a baby together there is a 25% risk with each pregnancy. Carriers are symptom-less and do not have the disease.

Loose/frequent poos are very much cystic fibrosis symptoms.. (they can't absorb fat without medication due to mucous blocks in the pancreas)it's just that these are such abstract symptoms that it is far more likely, statistically, that it will be something else causing it. But this was my DS's main problem.. for the first 5 weeks of his life, he ate (drank!) constantly.. but poo-ed it all back out again - constantly.. couldn't digest anything. Some children with CF with have some pancreatic function however, although this is sometimes temporary, and so will digest for a while.. or partly.

The CF in heelpricks is new and still not nationwide. US CF parents, among others, lobbied the government long and hard to get the NHS to pay the extra £2.50 per child it costs to add the CF screening test to the PKU/hypthyroidism screening tests. In the long run this saves money becayse a late-diagnosed child will cost the NHS far more in treatment.

SJ x

isn't it amazing all the different things that can go on
DD cannot metabolise fats well either, certainly as infants kids with NS are low weight, despite a big fat supplement, thanksfully no stool problems though, its just something that sorts itself out
A full milk diet, no wonder dd ended up dx'd as fail to thrive
And as a parent you turn into an expert too

Gosh, I had no idea this was newborn testing was so widespread, SJ. What do they test for? Not DNA testing presumably, as there would be so many false negatives?

Tanum, the newborn screening that is in place nationwide already (and has been for decades now I think) is PKU - a metabolic disorder and congentital hypothyroidism. This is routine and performed on every newborn in the country at about 7 days - the HV( usually) does it and via a small pinprick of blood from the heel. It's just a screening test for those two condtions.. but as I said (longwindedly, as I am prone to doing ) below, CF screening has now been added to this test but not all areas have got the CF one yet, so many newborns with CF (there is one born every day in the UK) will often go undiagnosed for months or even years, especially if they inititially have some ability to digest their food. My DH was 'lucky' really in that is was so blatantly obvious that he was malabsorbing that all the tests gone done pretty soon.. ending with the CF (sweat) test.

The heelprick/blood test for CF is obviously testing for the genes involved (there are many types of CF gene although 82% of people with CF carrier a pair of the most common CF genes Delta F508 - or a combination of 1 DF508 and 1 less common one. This is how the 'types of CF come into it.

The sweat test, obviously, is purely a chemical test and a positive result will later be backed up by the genetic screening performed on blood (as above) or more commonly now, on a scraping from the inside of the mouth/cheek (which is painless.. you can take it yourself in a second.)

Sleepyjess - I am a carrier of delta 508 as is my daughter. As a result of a complicated history on DH's side (his cousin had CF) all my children have had their cord blood tested at birth to see if they are carriers. As DD2 is a carrier she had to have the sweat test.
If newborns are screened and found to be carriers what is the follow up (bearing in mind that not all mutations are known)?

This might be of some help www.pierrerobin.org/Information.html.

As eefs said, it is problem with the growth of the jaw that can mean that the palate is not formed properly. In a minority of cases (normally if a a child has a lot of other things wrong too) it is linked to some genetic syndromes.

Sleepyjess - have you got any more information on the CF testing - I am gobsmacked that they would screen for a recessive disorder at birth - can understand looking for children who have 2 mutations but what about the ethics of discovering the 1 in 25 children who are carriers - are they told the result? Are their parents?

OK I have answered my own questions - according to www.newbornscreening-bloodspot.org.uk/ The newborn screening is not genetic testing - they are looking for increased levels of immuno-reactive trypsinogen so should only pick up affected children.

bluebear - we had a real struggle to get the cord blood test initially because of just your point. I think it was referred to as "protecting the rights of the child". It was slightly different for us though as there was a real risk of CF so don't know how it works generally.

bluebear - if that is the case why the need for the sweat test? I thought that was the only accurate method.

Yes Yoyo - I can understand why your children need testing - especially if the mutation in your dh's family is unknown..... I was just thinking of all those hundreds/thousands? (don't know how many babies born each year in UK but 1 in 25 must be loads) of babies who would be diagnosed as carriers without their consent...it's a big ethical jump.