Should I ask for a CF test? Advice please.

[curlywurlycremeegg]

DS2 is 3 and has had regulary upper respiratory tract infections (once every 4-6 weeks) for the last 18 months. Nothing serious enough to need attention, but as a nurse I probably have a higher tolerance of home nursing before seeing my GP.

He also has frequent, loose stools (between 4 and 8 bowek movements a day).

He also complains of joint pain, specifically his knees, frequently.

He has been refered by the community paed for various blood tests and chest xray, however I don't think a CF test has been requested.

Does anyone with any experience think I should be requesting one or am I over reacting?

Thanks

Does his skin taste salty. I know this is an odd question, but this is the first test they would run for CF.
Is he putting on weight or are their problems with his growth?

Pixie, he didn't have the neonatal heelspot done, which makes me more inclined to request a sweat test now.

clemetteattlee, he gets quiet hot so does taste salty frequently, but I am not sure if this isn't just a normal perspiration saltyness IYKWIM. No growth issues, weight on 50th centile and height on 25th.

agree with clementt, does his skin taste salty and how has he been putting on weight? When you say he has several bowel movements a day are they pale and oily/greasy looking? If you were to flush them down the loo would there be a greasy film left on the surface of the water?

depending on where your DS was born he may not have been tested for CF under the heel prick test as it was only rolled out to the last areas of the UK in Oct 2007 I think.

if you want to get him tested he will need to have a sweat test done which is a painless procedure where they try and obtain two samples of sweat to see how much salt he is losing. people with CF typically lose up to 8 - 10 times more salt in their sweat than healthy people.

If your GP can't help, go to the CF Trust - you'll find them at www.cftrust.org.uk and they'll be able to tell you where your nearest dedicated CF centre is and you should be able to try and get a test through tem.

good luck with getting the test and I hope you get the result you are looking for. If he does have CF he will start on the right medication regime and you should see a big change in him. My DD is also 3 and has CF and if it helps, is one of the healthiest children I know as she's been treated for the condition since birth

oops x post

mintyneb, thanks, I have been on the CF website so will check again for the nearest test centre,

His bowel movemnst are often pale with a distinctive smell, frequently undeigested food, not particularly oily though. Sorry if TMI!

Thank you for telling me about your daughter and her health, it is very reassuring

no problem. keep us posted as to how things go. It must be difficult for you hoping he doesn't have something like CF but then wanting to know what might be causing the problem if it isn't.

it sounds like your DS is growing well but don't let that be a factor to let your GP (if you have to go down that route) fob you off. it is true that most people with CF are 'pancreatic insufficient' meaning they are not able to produce digestive enzymes and so are labelled failure to thrive and can have dreadful bowel motions, but depending on the genetic mutations someone has, they could be producing some enzymes themselves meaning they can grow relatively normally.

also remember most GPs will never have come across CF in their working lives and most will probably only remember their GCSE lesson on genetics so again don't let that put you off pushing for whatever tests you want

good luck!

Phoned the paed's PA today and she is going to put my request forward to him.

Thanks for the advice everyone.

Sorry, meant to ask, is the sweat test diagnostic or is the oral swab more reliable?

Thanks

The sweat test is diagnostic. The CF defect means that salt cannot be effectively reabsorbed through the skin.
Keep us posted.

only just seen this but thought I'd reply anyway! The sweat test is accepted as being the main diagnostic tool for CF. If I remember rightly, results below 40 are considered normal,(and therefore the person does not have CF), 40 - 60 borderline and over 60 a positive result and the person should have blood tests done to confirm the presence of two mutated genes. FYI my DDs result came back at 113 which the nurse said was one of the highest she had seen

the blood tests don't always find the mutated genes, btw

true but they should find the main ones. I think 75 - 80% of carriers in this country carry the most common one

anyway, good luck with getting the sweat test sorted and keep us posted with how things go

my 8month old had sweat test 2 weeks ago-it is painless-the heel prick test is not conclusive.

The heel prick test doesn't look for gene mutations anyway, looks for raised levels of immunoreactive trypsin. Still not 100% conclusive as enimod says though.