Late CF diagnosis(13 Posts)
My son now 15 has always been poorly, several chest infections as a young child and has always had stomach issues...bloating, very loose movements etc.
At the age of 4 he was diagnosed as a CF carrier.
After another year of cold after cold, an asthma diagnosis last year and increasing bowel issues we were referred back to hospital.
Yesterday we saw paediatrician who is a CF specialist and she wants him to be rechecked for CF.
Whilst we were there he had a lung function test ( poor) chest and wrist X-ray ( for bone age) cough swab and blood tests.
The bloods are being sent for genetic mapping and she is also testing for other things. He has been tested for Coeliac disease twice in the past but they were negative, I think one of the phials of blood was to check that again.
Consultant has also arranged another sweat test ( the one he had done when he was younger was spilt and he shouldn't have had that repeated straight away at that time apparently)
Also he is to have an ultrasound scan to look at inflammation in his bowel and to look at his liver. We were also sent home with several stool pots for samples.
Can you really get to this age with CF and not have major problems.
She also said that there has been loads of research done recently and his mutation which is 5T 7T can have 5T on one chromosome and 7T on the other and that makes a CF diagnosis, if the 5T 7T are together on the one chromosome he will be a carrier.
I am so confused and worried.
It's unusual, but possible I'm afraid. They may still find that does not have CF but with those symptoms he will undoubtedly be better off seeing a CF specialist. It's not unheard of for people without an actual diagnosis to still be seen at a CF clinic, because it us the best for them to get specialist treatment.
He needs a positive sweat test for a definite diagnosis - the genetic results can come later. Some of the more uncommon mutations will not appear in normal testing ( dds 2nd mutation wasn't found for 5 years)
Dd was diagnosed at 8 weeks, but I remember one of the doctors at the time telling me they had recently diagnosed a 15yr old girl. She had been repeatedly hospitalised chest infections until an on-the-ball junior doctor noticed the infections she had were commonly seen in CF patients.
Sorry, meant to say, you must be beside yourself with worry, but whatever the outcome this should be the first step in getting him the help he needs.
From the stool samples they can find out if his pancreas is working efficiently or not. From the cough swab they can find out what bacterial infections he might be carrying. This kind if knowledge will have an immediate impact on his treatment, and his health both in the short & longterm.
Sorry I have no advice. But.....I am watching this post as my daughter is 4 and has been in and out of hospital with chest infections/pneumonia, failure to thrive, etc since she was born. She now has some damage to her lungs. She has been on prophylactic abx for almost 3 years and grows pseudomonas in sputum samples too. Both her consultants have said she is on the treatment plan they give for children with CF (profolactic abx, then 2 weeks 400/57 co amoxiclav when she gets poorly, followed by IV's abx regular physio/nebs) but it can't be CF as her sweat test was negative? I have always wondered if some types of CF only show up with genetic bloods. Even though they aren't too concerned about sending bloods off as apparently even if it was positive it wouldn't change her treatment plan away?
Cupcake it sounds like your dc is getting good treatment tbh I would push them to send bloods for genetic testing if there is any chance that it could be CF. The sweat test is normally the ultimate test, but there is always a small chance that it fails.
There are new treatments which are specific to certain mutations nowadays and the CF trust has been encouraging anyone who doesn't already know to find out their mutations.
Bubble thank you for replying. Yes I am really anxious about it as consultant seemed to be focussing about CF when she talked to us and ds picked up on it and i know he is worrying about it all.
We have Coeliac disease in family but although they are testing for that she definitely had the conversation around the CF.
When he was tested when younger, the consultant was the same as all those years ago, she was surprised that his sweat test wasn't positive at that time. So this is obviously making me really worried.
I find all this very confusing, the bloods are being sent to Manchester can they show CF still if the sweat test is negative?
We know he has one mutation, but she said the 5T could be on one chromosome and the 7T on another.
I have probably rambled on and not making sense!!
There was a poster on MN with triplets who were diagnosed with CF quite late (I wish I could remember her username). So, anecdotally it seems like the standard testing process from CF can be inadequate and allow some children to slip through the net.
Sorry, that's not the reassurance you're hoping for. You must be so worried
Anecdotally yes, I have heard of borderline or inconclusive sweat tests though it would be very unusual.
I haven't heard of mutations in relation to different chromosomes though, not entirely sure what your consultant means by that.
Really hope you get some results soon and that your ds starts feeling better
Hi op, I'm sorry you're going through this. A cf diagnosis is difficult but being in limbo must be so hard too.
As others have said, it's not impossible to get to teens or even beyond before getting a cf diagnosis. I believe the heel prick test didn't include cf until around 2007, so babies born before that would not have been routinely tested. Some mutations seem milder than others (though not all cf doctors would agree with that statement!) and it seems likely that someone with one of these mutations is more likely to go for longer undiagnosed. The heel prick test is something like 90% accurate I think, so there will be some babies who slip through, and the sweat test is also not perfect (though I'm not sure how accurate it is). There is a more accurate test but it's not offered by many hospitals.
With the 5t and 7t variance that you mentioned, do you know if that's with r117h? My son has r117h with 7t on one chromosome (and another mutation on the other chromosome) and it is generally thought of as being a milder mutation, or at least one with a varying degree of symptoms.
In America some doctors are giving a diagnosis of CRMS - cf related metabolic syndrome - when they are unable to give a full cf diagnosis but the patient is showing signs of cf. I think there's a Facebook group for CRMS but it's hidden (or at least it used to be) - if you joined a closed group like cf mamas and asked around, you would hopefully be pointed in the right direction. There was an article in the recent cf trust magazine about someone with cf symptoms who doesn't have a full cf diagnosis, but I can't find it online - it was very recent though, so maybe it will be posted online at a later date.
Oh, with the mutations on the same or different chromosomes - someone on the cf trust site explains mutations as being like mistakes in a manuscript. There are certain known errors that are checked for, but other errors aren't checked for routinely so sometimes the whole manuscript (chromosome) has to be checked - which takes ages. If the same error is found twice, that must be one error on each chromosome. If two errors are found, it is possible that they both occur on the same chromosome. This possibility was raised (and then rejected) when my DS was first diagnosed and the consultant wasn't able to say what effect, if any, there was of having two errors on one chromosome. In theory, you only need one working chromosome to be healthy (but a carrier), but it seems to be an unknown really.
One more thing you might like to Google is 'symptomatic carriers'.
How are they testing for coeliac? I'm coeliac but antibody negative. I was diagnosed by checking for a certain genetic mutation (Q something, something, something) and gut biopsy.
You might find this useful, OP. https://www.cysticfibrosis.org.uk/inconclusivediagnosis
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