being checked for cystic fibrosis

I wonder if anyone could offer any advice or opinion.

Isaac has had asthma since 11 months (now 2 and a half) and today we had a check up at the doctors. I was feeling quite possitive as his inhaler usage has been signicantly less since starting montelukast and he is now allowed to lower his becotide to 1 puff am and pm of 100mcgs.

Isaac sweats overnight and has a large salt mark on his bedding as a result. On mentioning this to his doctor he asked questions about his stool movement and has referred Isaac to a pead for cystic fibrosis test! Isaac has quite a few chest infections also.

Has anyone else had this? Obviously I am very worried, but he is well so it is a completely unexpected suggestion. Also I thought that CF was diagnosed soon after birth with the prick test?

Thanks in advance

Sarah xx

[Skee-skee]

Sorry I can't answer all of your questions, but I do know that cystic fibrosis can be diagnosed by the heel prick test. However it has not been done everywhere, I think it has been going in Scotland for a few years, but here (London) it has literally just come in at the beginning of July.

Cystic fibrosis can vary in severity and presentation depending on the particular mutation you have.

(I work in genetics can you tell!)

Hope that helps, and someone can give you more information soon.

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Hi,

I'm sorry to hear about your son.

I am not a parent but did have to go to the children's hospital last year to be tested for CF.

I am much older (24) last year I was diagnosed with type 1 diabetes, it was caught early and the endo treating me said she wanted me to be tested a) b/c the way my diabetes started was similar to how cystic fibrosis related diabetes begins and b) due to having asthma. I was told sometimes 'mild' CF mimics asthma.

So I guess not all people are diagnosed at birth...

Good luck, I hope things go well for your son!

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I was checked for CF twice in my late 30s. When I was going through the process I spoke to the cystic fribrosis helpline who are very helpful. You dont have to have a confirmed diagnosis to phone them.

They did say more and more people are being diagnosed later in life now and it is becoming apparent that there are variations of severity of CF. So try not to worry easier said than done as I know when I was having my tests all I could worry about was if its positive will my son have it as we are both similar with chest symptoms.

Both my tests were negative which suprised doctors due to symtpoms I had and bacterial infections I was getting.

The tests are not invasive nor painful . Hope all goes ok

This is the number Tel: [phone] cftrust.org.uk I am sure you will find they can answer a lot of your questions.

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Thankyou all for your replies. Fingers crossed that everything will come back negative

Sarah

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Hi Sarah - I know that as of July 2007, all newborns will be screened for CF as part of the heel prick test. Prior to that date, only some health authorities did.

I know how your feeling right now - my son Max, who'll be 2 in September, developed a cough and a wheeze last September and ended up with pneumonia in March this year. As he had a distended abdomen too, the consultant wanted to test for CF. So far he's been scheduled for 3 sweat tests - 2 failed (didn't produce enough sweat) and the 3rd he had chicken pox. The consultant now doesn't think Max has CF (he reckons a chest infection that was inadquately treated and the belly due to the amount he was drinking, as its since reduced) but I've asked him to do the full blood screening for it...they took the blood last week, but apparently not enough, so he has another blood test scheduled for this Friday, so all in all, I'll have waited 5 months to find out!

Try not to worry and keep us posted.

Nikki

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Hi there, i certainly know what you are going through ( or maybe you have the results by now) but my son last week had bloods to be tested for CF. He was initially diagnosed as happy wheezer and has been on inhalers on and off since he was 6 weeks old - he is now 13 months. The consultant has said that the productive cough my son sometimes has is not usual for asthma and therefore wants to do other tests. My son occasionally coughs onto his bib creamy phlegm - this is not when he is ill with a cold or chest infection but i'm hoping this is still related to asthma, i don't know if thats possible, but that is what's keeping me sane at the moment. Anyway we have to wait 4-6 weeks for the results, he is having blood screening. I know there are hundreds of mutations and even genetic screening doesn't always pick up on rarer mutation. from what i have read on CF - there are milder forms, it's not always picked up straight away and the heel prick test is being introduced in Manchester pct very soon, (i work there). I believe the sweat test isn't that reliable and only doing bloods is definitive.

I do hope you get a negative result, take care.

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I hope both Issac and Sammi have negative tests and wish you both good luck.

It seems to be when there is no logical explantion for a child to have difficult to control chesty problems the docs do tests for CF. My son had a total of 5 CF tests between ages of 6 mths and 5 as doctors were not happy to accept that Sean asthma that severe from so young. Each test was done on the basis of the one before may not have showed up and this test would show something. Eventually the docs and us had to accept that after loads CF testing and other exploratory tests that there was nothing else undiagnosed. We have been told Sean carries the CF gene which obviously he will need to consider when having his own kids but then again many of us do carry the gene without the disease.

Anyway hope your boys well at moment.

Jx

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Thank you all. It's good to know that others are going though/been though similar experiences and what a blooming worry!

We have an appointment for Isaac on 6th Sept so not long to wait. He is actually in the best health he has been in since he was about 6 months old and he has been responding really well to his current meds so I am hoping that after listening to his chest and realising he hasn't had an infection in about 6 weeks (usually every 3 weeks) they will be happy with him and no more action/test be necessary.

Fingers crossed.

I hope the Sammis come back negative, please do let me know and also Max isn't waiting too long for results either. Have they come back yet? or, do you know how long they will be? Keep me posted people. It helps to share doesn't it?

Thank you all again. I will keep you informed of our progress

Sarah