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

Ah thanks bluebear, I have been wondering about that too- that makes sense. SJ, I'm a geneticist, so I do understand about newborn screening, I was just staggered to think that DNA testing was being done on heelpricks as the number of mutations that could be screened for would be relatively low, and they couldn't hope to pick up more than 80% realistically (if that) hence my comment about the number of false positives, and of course the point that bluebear raised about the ethics of carrier identification. I was also surprised to hear that it would only cost £2.50, but bluebear's explanation makes it all clear.

bluebear - that's why I wondered what happens if they are found to be carriers. Is the info filed or passed on to them? Do their parents then get screened, etc?

The test that bluebear has found the link to isn't DNA testing, yoyo, so only homozygotes would be detected, so there would be no carrier detection issues. This whole thing must be very frustrating for you, I can see why you want some answers.

I am no expert on CF testing - I would guess that they use the trypsinogen because it is a test that works on a blood spot (doing sweat tests on all newborn babies would be really hard to organise but the heelprick bloodspot collection is already in place) A sweat test is pretty easy to do but distressing to the baby so is suitable to confirm the suspicions if the baby has a risk of CF or a positive trypsinogen screen result....and that put together the two tests (or high risk plus sweat test) justify the cost of doing the genetic test. Just a guess though.
Interesting subject - it it wasn't for dh on his way home for dinner I'd google a bit more

Hope Matthew is feeling better soon NHandM.

We're not planning on having any more but once you have been involved I feel it is important to try and keep up with developments. Also as my DD is a carrier I wonder if (many years in the future hopefully) her partner would automatically be screened. It is a huge subject and I don't fully understand how the heelprick works so will have to google at some point.

blimey ladies im lost lol thnaks alot for ur replies
will try and answers those questions for those that left them
matthew hasnt been tested for certain allergies ie wheat or the other thing
when we was in GOSH they said they wnated him to b seen by genetics as tehy felt matthew had a genetic conditon of some sort due to his chin, no names was mentioned, so i mentioned his chin to his paed here and he told me about this syndrome and feels this is y GOSH want him seen by then
like i said i dont have a clue about this syndrome never heard of it b4, my hubby does have a high palate and he thinks matthew has got some of his probs from his dad as hes the spitting image of him
matthew has sleep apnea, but its not linked to obstruction so if he does have this PRS then its not causing this, matthew apnea is a prob with his brain, so if its nto causing him any probs now y investiagate it?
however he does have a swallowing prob with was found on the videofluscorpy so dont know if that could be linked to the PRS?

i think now they r trying to rul thinsg out with mathew has hes always a ill child, took him docs earlier to find he has a ear infection is always on anti b or steroids hes immune system is so crap. least now after 16 month worth of bugs hes immune system is getting checked

its such a strain on us all not knowing, i havea 3 year olf daughter and she finds it hard being away from me and matthew
but we r currently waiting to bk to GOSH for MRI, sleep EEG, and loads of other tests hoping the app comes through soon

thnaks all so much for ur info
love natalie

Nat and Matthew - wishing you all the best with the next round of tests. It must be a huge strain for all of you. I'll keep my fingers crossed that the appt comes through quickly.

Tanum that I was telling a geneticist about newborn screening!! (You never know who you are talking to on here do you! ) Actually, you are all miles ahead of me.. 'layperson style expert' on CF I may be.. but I admit to never having given the ethical aspects of the heelprick any thought.. I had automatically assumed that it would pick up only sufferers of the disease, not carriers of it.. I was too busily emailing Tony Blair (yes I really emailed him among others ) to try to insist he honoured his promise to get CF incorporated into the newborn screening because I have seen what happens when it doesn't get picked up at birth (in families I have got to know.) But if I had thought about it I would have gathered than £2.50 would not pay for a DNA test.. nor would it be preferable that DNA testing be done on newborns. Sufferers need to be diagnosed asap. Carriers on the other hand should have the choice of finding out although if everyone was aware of the ratio of CF carriers in the population, more people would choose to be tested I'm sure.

The ARE careful about the ethical aspects of carrier status screening as I had to kick up something of a fuss to get my DD tested at 8 months old. The likelihood of her having CF were negligible as DH is not a carrier of any identifed genes.. (ex H is DS1's dad).. but when she stopped gaining weight I got really neurotic and convinced myself she must have a rare form (combination of my DF508 and an unidentified CF gene). They did the screening and she doesn't carry any CF genes thanks God. But it was obv. 50/50 that she would have a DF508 which would have been something I would have had to address with her in the future if/when she wanted to have kids.

Yes, sorry for sending everybody off on a tangent there.. will be thinking of you Nat.. please keep us posted xx

SJ please don't apologise I re-read my message and it was ambiguous, it sounded as though I was gobsmacked to hear that any newborn testing was carried out!

yoyo, the way the screening is done up here is that all pregnant women are screened for the most common few mutations, and if they are carriers then their partners are called in for testing, and then they are offered amnio. I would have thought that given that this is accepted practice here it shouldn't be that hard for your dd to get her future partner tested, at least. It should be more mainstream by then, too.

Natalie, I do hope you get some answers and help.

hi all
well 2morrow is the day for the sweat test and bloods
i got a letter this morning saying what blood tests matthew is having done and i think someone on here mentioned gluten well they r testing him 2morrow
i couldnt read whta he wrote on the forms so didnt know til this mroning
so 2morrow the day will start at 6.30am for me need to up and have bath get kids ready then get hubby up and then we have to leave at 8

his tests r
sweat test
CPK
Coeliac antibody screen
Immunoglobulins
IgG (dont have a clue what that is)

i am so scared of what will be found i feel very down
thansk all for ur messages regarding matthew
we still dont know more about PRS, still waiting for app to come through

love nat