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Original poster

dd being tested for cystic fibrosis

118 replies

Boco · 19/02/2009 12:31

I had a call from the hospital today asking me to bring dd for sweat test and more bloods as the consultant thinks she may have cystic fibrosis. She's 4 and has had pneumonia 5 times in the past few months.

They mentioned this in passing last October, but I assumed they'd dismissed it. We saw the consultant again last week and he mentioned that he wanted to do tests quickly, but wasn't really expecting this.

Feel rather panicked by the idea know nothing about the condition but assumed it was hereditary.

Has anyone else had testing for this? I probably shouldnt' even think about this until Tuesday, but hard not to.

OP posts:

Original poster

Boco · 19/02/2009 14:15

And do they need bloods for the test too, or is that something else? She had loads taken on thursday, and they're being done again on Tuesday and not sure why.

Thanks, am sure you're right and it's just routine. Have been worrying about her for ages , but am still hoping it'll just turn out to be one of those things.

OP posts:

Saggarmakersbottomknocker · 19/02/2009 14:17

I don't know if they need bloods for the CF test too Boco. It sounds like they're thinking 'enough is enough' we need to get to the bottom of it now. Which is good but I understand that you're worried in the meantime.

lljkk · 19/02/2009 14:18

If she did have it (big IF), then wouldn't she be at the very mild end of the condition -- considering she's 4 already without it being picked up previously? Something to cling to, at least.

silverfrog · 19/02/2009 14:19

can't remember if the CF test needs blood work dd2 had soem taken, but they were checking for coeliac, and a general rundown (as they didn't think she had either Cf or coeliac, but were ruling them out) so not sure if they needed it for the CF test.

dd2's paed said that investigations went along the lines of:

rule out CF and coeliac
rule out heart issues (usually just by listening with stethoscope)
investigate full blood wrok and then take it from there

as I said, dd2 was failure to thrive, and he reckoned that most of the time no cause is found.

neenztwinz · 19/02/2009 14:20

My niece was diagnosed with CF at 8mo. I think there are varying degrees of the disease and DN has it quite bad which is why it was picked up at 8m (she was very ill, she basically screamed in pain for the first 8m of her life cos CF suffers don't digest food properly without taking enzymes). But even saying that, she is 10 now and is fit and healthy, leads a normal life, although there is some damage to her lungs.

So if your DD is 4, even if she has CF, hopefully it will not be very bad otherwise it would have been picked up sooner.

watsthestory · 19/02/2009 14:21

This reply has been deleted

Message withdrawn

MmeLindt · 19/02/2009 14:24

Hope everything goes well, Boco.

verygreenlawn · 19/02/2009 14:31

Yes ds1 was tested - took about an hour, wasn't a distressing test or anything. Unfortunately the only problem was they had to do it twice because the first time they didn't collect enough sweat!

TigerFeet · 19/02/2009 14:45

Oh Boco . You must be shitting yourself.

I had a neighbour with CF a while back, she was a widow in her 60's who kept mahoosive dogs - clearly her illness never stopped her doing anything. She's one of the most fabulous people I have ever met, so full of energy and vitality that she put me to shame. A positive dx doesn't mean your dd won't be able to live a normal life - in 60+ years time she could end up being a slightly dotty old lady with big dogs who is always on the go and charms her neighbours.

I'll be thinking of you on Tuesday.

ellymae · 19/02/2009 14:47

boco as far as I know the blood test is used to check for the CF gene. If your dd has CF then she would have two faulty (or mutated) copies of the gene.

Unfortunately there are about 2000 different mutations and so the first round of genetic testing only looks at the 14 or so most common ones. Apparently 85% of carriers have the most common mutation though. I think the genetic tests can take a while to come back altho not sure exactly how long

Just a quick comment about mild vs severe CF. Most people who have connections with CF would argue that there is no such thing as a mild or severe case of CF. You either have CF or you don't. However, because it affects every person differently the drs cannot say that just because you have inherited X and Y genes, you will have such and such a type experience. You can have siblings who have obviously inherited the same genes, but with one very healthy and one not so well.

You tend to find that children fall into a couple of broad camps - they either suffer from bad digestion and have few chest infections, or the other way round. Whether a child gets lots of chest infections can be down to bad luck, how quickly treatment is given, their lifestyle etc. Also all the other genes that a child has inherited from their parents can affect how tall they grow, how easily they put on weight etc all of which can affect a childs ability to fight off infections.

Sorry boco, I have probably roamed into territory that you don't want to go to just yet but I just wanted to give you some honest feedback. Hope thats OK

WT · 19/02/2009 14:53

Oh Boco, what a worry.

I'm going to keep everything crossed for you both.

As has been said already, it's not that she's eating tons and is skinny, which could be a worry, there is an obvious reason she's slim - she's not eating well because she's feeling unwell.

Thinking of you.

mollyroger · 19/02/2009 14:58

Darling Boco, I'm so sorry to see this. No advice, just wanted to acknowledge the anxiety and stress you must be feeling. X Keeping stuff crossed for a less scary diagnosis.

slightlycrumpled · 19/02/2009 15:04

Oh Boco you must be out of your mind with worry. My DS2 was tested for CF due to recurrent pnuemonia and failure to thrive, Thankfully it was negative, although he does have a chromosome abnormality that affects his immune system hence the infections.

I would suspect that the bloods would be for a variety of things including checking the immune system.

DS2 was very poorly in hospital when they did the sweat test, he was severely underweight and couldn't breathe unaided, it was a terrible time and you have my sympathy. Hopefully she will be fine. (Forgot to say that despite testing negative he does taste a little salty so don't panic when you give her a sloppy kiss later if she is salty!)

JackieNo · 19/02/2009 15:05

OH Boco - what a worry for you . Sounds like you're doing absolutely the right thing by not googling. Thinking of you and DD, and sending good vibes your way.

tkband3 · 19/02/2009 15:13

DD1 was tested for CF due to failure to thrive when she was 2.7 - she hadn't gained any weight for a year, and although she hadn't had pneumonia, she was susceptible to viral infections and was constantly vomiting. They took loads of blood at the same time although we weren't sure what tests were being done. We subsequently found out that the sweat test was negative, but she has coeliac disease, hence the lack of weight gain, susceptibility to infection and the vomiting. I'm sure they will also be checking for anaemia amongst other things.

You're definitely doing the right thing by not googling...will be thinking of you and your DD.

Mercy · 19/02/2009 15:19

How worrying for you Boco.

Sending strength and positive vibes

francagoestohollywood · 19/02/2009 15:32

Oh Boco, I hope everything turns out fine. Positive vibes from me as well.

Piffle · 19/02/2009 15:46

just sending luck and love for you and your gorgeous girl boco
X x x

DollyMessiter · 19/02/2009 17:44

Boco, so sorry you are going through this stress at the moment.

My niece had pneumonia several times in a short space of time when she was 2/3/4 (and she still gets it once or twice a year now that she is 5), and she too had to have the sweat test for CF, and my DSis and DBil had to wait around for the results straight afterwards.

It was a scary time, but the results were negative.

I know it is terrifying, but it is standard procedure under the circumstances.

I will be thinking of you all.

BoysAreLikeDogs · 19/02/2009 17:45

Boco I am thinking of you and DD x x x

ILikeToMoveItMoveIt · 19/02/2009 18:20

I'm not sure what to say or what the right words are tbh Boco. But always have hope and stay positive.

I will be thinking of you and your dd.

Califrau · 19/02/2009 18:31

This reply has been deleted

Message withdrawn at poster's request.

FrannyandZooey · 19/02/2009 19:01

you are so right about googling
wishing that tuesday comes and goes quickly and with reassuring news for you!

ilovepeppapig · 19/02/2009 19:08

hello boco.
my daughter has CF. she is 7 now but we got her diagnosis whn she was 5. I can remember waiting for the sweat test results and googling it. it was the worst thing i did i scared myself witless. she is an active little girl and spent all day at he stables on a pony day today in the COLd and wet. I thought none of this would be possible when i found out about her CF.

as lots of posters here have said she may well be clear. There are also degrees of CF. My DD has non-classical CF and it is quite mild. There are a few MNetters on here with dc with CF they are often lurkers like myself. if you need any help if you get a CF diagnosis i will try to support you the best i can. It might be better to post on the SN board as this is where we with CFkids tend to lurk. will check in regularly. am a teacher so dont tend to check in before 8 during week

Original poster

Boco · 19/02/2009 19:26

Thanks for all the nice messages.

Ilovepeppapig, thanks for offer of advice. Your dd quite big when diagnosed, what was it that made them think it was CF? I'm glad she's doing so well.

Hopefully i've been reading too much into what she said, and it's just a precaution, and will be fine - so will grasp back some perspective, not google, and be Very Busy until Tuesday.

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