Cystic Fibrosis testing

[Newmother]

Not sure if it's quite common to try to rule out CF in children, but my daughter has recurrent chest infection, changes in X-ray, and gp as usual has been reluctant to prescribe antibiotics, now we are referred to hospital, and getting CF done as advised by the specialist. I am trying not to freak out, but I am reading about it, and it just seems that she has most of the symptoms!

Any similar experiences/ thoughts?

thank you

[Saffron]

I think it would be not uncommon to try to rule out CF if there are recurrent chest infections, though CF itself is not so common. There are many things that can cause recurrent chest infections. How old is your daughter? What other factors could be related to the chest infections?

[fapl]

I thought CF was one of the diseases that they tested for in the newborn screening tests when they take spots of blood from the baby's heel.

[etta166]

fapl Wrote:

-------------------------------------------------------

> I thought CF was one of the diseases that they

> tested for in the newborn screening tests when

> they take spots of blood from the baby's heel.

Yes, but they can only test for some of the more common mutations that are known to cause CF. It's not currently possible to screen for all cases of CF using a blood test.

[Saila]

but the odds of Newmother's daughter actually having CF are much lower if she's had these tests at birth?

fingers xed for you NM.

[Saffron]

No, strictly speaking I don't think the odds ratio is affected if CF went undetected at birth. It's not like flipping the same coin twice. It's like flipping two different coins.

I think CF is usually diagnosed in the first two years of life, so if your daughter is older than 2 yrs, then CF is a less likely diagnosis (though not a total impossibility).

[Saila]

but CF is a genetic disease and the test at birth would have been definitive (assuming it was a genetic test) for the mutations that they tested for. - surely the proportion of mutations that she tested negative for can now be ruled out

therefore the probability of having another mutation will be much lower than standard CF mutation

edit to say - it's not a genetic test at birth - just a screening test... so you're right it wont be definitive.

[etta166]

Saila Wrote:

-------------------------------------------------------

> but CF is a genetic disease and the test at birth

> would have been definitive (assuming it was a

> genetic test) for the mutations that they tested

> for. - surely the proportion of mutations that she

> tested negative for can now be ruled out

>

> therefore the probability of having another

> mutation will be much lower than standard CF

> mutation

Yes, but no test is 100% accurate. There will always be cases where a positive result comes out negative, or a negative result that comes out positive. Even if you have been tested at birth, you could still have one of the mutations that was tested for and not know it.

Either way, CF is rare. It is usually diagnosed very early, and you would often have an inkling that it was a possibility because of having relatives that have CF. CF is one of many possible diagnoses and it's most likely that they are testing to rule it out, rather than because they suspect that it is the cause of the repeated infections.

[Newmother]

Thank you all, daughter is 4 and yes she was tested at birth but it was negative, no known cases in the family, dad is very allergic, so I am hoping it is not Cf

I can only hope it's just a missed pneumonia or even a weakened immune system. Having read about it it is not good at all. I sympathise with parents who have t cope with this.

[Mens]

Are they sure that they are chest infections? Sounds stupid but allergies manifest themselves in many different ways and the chest is one of the areas that can be affected with huge mucus build up.

[Saffron]

Yes, as far as I understand, it would be a test to rule out CF. There can be many other contributing factors to repeated chest infections in young children, so drs probably want to rule out anything major first. It's good that you've been referred to a specialist so quickly. xx

[Newmother]

X-rays show consolidation and changes in both lungs

She catches anything that is around and is whizzy and snores and coughs constantly I am hoping it's a virus and some good strong course of medication will cure it th trouble is we are going through this since last year and the only antibiotics we ever got were when we begged for them.... Clearly not right, when the dr says I can give you some if you really want!

We wasted so much time with this and hope we r not missing the real diagnosis

[MelissaVF]

CF has so many digestive issues I'd be very surprised if these hadn't shown up before now. My brother has it and he had lots of health issues v early (particularly tummy and food related) that led to the diagnosis. They check for 35 or so of the known mutations when they screen. I'd imagine they are just double checking. Good luck - not knowing what a health problem is can be so stressful.

[Saffron]

Newmother Wrote:

-------------------------------------------------------

> X-rays show consolidation and changes in both

> lungs

> She catches anything that is around and is whizzy

> and snores and coughs constantly I am hoping it's

> a virus and some good strong course of medication

> will cure it th trouble is we are going through

> this since last year and the only antibiotics we

> ever got were when we begged for them.... Clearly

> not right, when the dr says I can give you some if

> you really want!

> We wasted so much time with this and hope we r not

> missing the real diagnosis

Did you not receive antibiotics b/c the GP felt the infections were always viral? Personally, I would be concerned with recurrent infections that there is a deep bacterial infection in the lung which standard antibiotics will not shift. This is definitely something on which a specialist needs to be consulted. Did the dr think the "changes" were early stage fibrosis (eg, scarring / collagen deposition)? I've heard anecdotally that severe lung infections in children are sometimes treated with an antibiotic + an antiviral drug to decrease the chances of fibrotic tissue formation. I don't know if there is any research on this yet.

If you want a 2nd opinion privately, we saw Dr Jack Singer (not for CF, for another issue). He was typically eccentric but very well informed. http://www.harleystreetpaediatricgroup.com/dr-jack-singer.html

[Newmother]

Thanks Melissa yes ou are right I do hope that an extreme case would have been diagnosed earlier

Saffron, yes gp s wasted so many days taken off work to get her checked and they just say it s viral

Unbelievable amount of time wasted And that not cheap, they could avevreferred us earlier even privately!

Anyway we went away and got an opinion frm abroad and that helped, even he gp became more responsive to our concerns

And referred us more easily

I agree with you, I am old that in France even if the infection is initially viral it must be checked and an anti viral and anti biotic is prescribed cos it can be over infected if I am translating ths right

Anyway, I would love to see some progress and get tests done, can't afford any more time off, Or I ll be looking for a new job :(