has anyone elses tof child had a ct scan, overnight sats test and a sweat test for cystic fibrosis?

peter also has to undergo tests to see how he fights infections,

Hi

My TOf child has cystic fibrosis so from that point of view, i’m a complete expert.

Anything specific you want to know about the tests?

Try to stay calm and not think the worst, did your child have the heel prick test (guthrie)? x

he did, when he was 1st born.

wouldnt he have shown signs of it by now? at aged 2.5

Not necessarily, some people are now being diagnosed in their 20’s 30’s and beyond.

CF is very complicated as a person has to have 2 faulty mutations of the CFTR gene. These are inherited from each parent.

The guthrie test only picks up a selection of the most common mutations (abit more complicated but its the simplest way to describe), there are now about 2000 mutations in the database.

CF affects all organs throughout the body not just the lungs. The pancreas in particular often doesn’t work properly or at all in people with cf and this is why they cant put on weight properly. My daughter doesnt have this problem and if her mutations hadnt been picked up on guthrie we probably wouldnt know now she had cf as chest wise she has been really good.

It is very unlikely your son has CF so try not and over worry (hard I know) look at the tests as ruling out all possibilities and his doctors doing their best to get to the bottom of what is going on with him. Respiratory problems are very common in TOF children and ruling out CF will be a formality if he has ticked a few symptoms.

What I will say is if the sweat test comes back borderline, i’d ask for full genetic testing as it may be your son has rare mutations that haven’t triggered.

I know this may sound mad but does his skin taste salty?

I hope I havent scared you in anyway as that was not my intention at all, i’m trying to reassure you that it is probably unlikely but they need to rule it out at least.

Any questions at all, please fire them my way if I can help you at all.

xxx

I do know of another family whose child has CF and was also TOF/OA. There is asbolutely no link between the two problems though, just bad luck.

x

thanks for all the info xx

his skin doesnt taste salty

i think they judt want to rule certain things out but they do like to worry you

Salty skin is common in cf patients as they cant retain sodium like you or I. It’s just another symptom someone with cf can have, there are loads and loads.

I am sure they are just ruling stuff out, unfortunately they have to inform you of why they are doing stuff for consent reasons. I hope everything comes back negative from a cf point of view though.

Anything crops up along the way, give me a shout.

All the best and I hope they get to the bottom of things with your son.

x

Jack had a sweat test for CF as well as a whole lot of blood tests and another one where they scanned him (can’t remember what it was called) and a lung biopsy.
Fortunately for us, it was all ok and great to be able to exclude lots of things.

Hope everything goes well
Jody

Normal triggers, Jayne would be failure to thrive, reccurent chest infections with a nasty wet cough and oily loose stool.
Also if particular bacteria are picked up on sputum/cough samples. Another trigger would be positive newborn sampling as the guthrie now picks up some CF mutations.

The problem is a lot of these symptoms mimic other illnesses so the tests are usually to rule out the worst case scenario.

xx

sorry for the delay in replying

all tests have come back clear thankfully, so no extra things to be worried about!

the only one im not sure about is the overnight sats test, the levels kept dropping to 85% but not sure of that was because he refluxed throughout the night so didn’t keep still or was a true reading.

seeing cons in the 14th so will speak to her then