Equivocal Sweat Test Result

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My son aged 15, known rare mutation carrier, awful GI symptoms and slightly reduced lung function has had results back as equivocal and we have been given an urgent appointment to see CF consultant on Tuesday.
His first sweat test was normal as toddler, although I have always had doubts about how accurate that was as sample was spilt and they retested straight away.
Bloods were done and sent to Manchester for genetic mapping about three weeks ago.
Feeling really anxious about it all.

Hi there. I can't tell you anything about your son's condition but I can tell you a bit about equivocal results. Generally they mean "this test kit didn't work properly" or "someone in the lab messed up". Occasionally they mean that some other proteins have obscured the result. They are rarely significant in and of themselves.

I had all this explained to me many years ago when I had two equivocal HIV results in a row. (I'm not HIV positive).

So sorry to hear this. Whatever the result it sounds like he should be under CF specialist care as that will certainly be the best outcome.

Hi, I think I replied on your other thread (late cf diagnosis... Was that you?). If by equivocal you mean a borderline result then I'm afraid that may well mean cf... Sorry It depends on who you speak to but many cf specialist seem to say that there's no such thing as a borderline result really - a normal sweat test result is very low. If you look at my post on the other thread I have said a bit more though. Hope you're ok.

Thank you ten and Bubble for all your info on my previous thread....late CF was me!
I am very worried, keep waking up at night!
Really concerned about DS as he has got GCSEs coming up and he is anxious and a bit depressed about them and I know he is worried about possible CF diagnosis...I am still clutching at hope that it is something else.
Upset as he was misdiagnosed with Kawasaki Disease as a toddler and that caused some heart damage so he/we have to deal with that as well, cardiology are talking of stents when he is a bit older.
Trying to keep busy, decorating his bedroom this weekend!

Consultant's secretary said equivocal, so am guessing she meant borderline.

It must be tricky and v hard waiting.
My 4 month old had 2 positive sweat tests but normal genetics.
While we were awaiting genetic results we were told CF isn't black.and white at all.
They are now finding many people.have a positive test but have a mild form.
Hope you get some answers

Also my daughters first was 68. Which we were told was just into positive range and therefore wasn't a strong indicator.

I'm sorry you're going through this, OP. It must be difficult for your son as well. There should be a psychologist as part of the cf team (if not at your local hospital then at the specialist centre) so you could ask for referrals straight away, if you feel it would be helpful. They're available for the whole family, not just the person with cf. I will be thinking of you on Tuesday

Waiting for the appointment is incredibly stressful. I hope you get some answers on Tuesday, and rapid improvement in your son's health.

Agree about the psychologist - even if your ds isn't ready to talk they will have some age appropriate stuff for him to read.

So we went...I was a nervous wreck!
Consultants first words were " well A do we diagnose you with CF or not?" So looks like there is more than a suspicion.
Sweat test conductivity was the abnormal one, but chlorine normal range...she went on to explain that new research has shown that rare mutations can have normal chlorine but abnormal conductivity, we now the one he carries is not a common one...sweat test is to be repeated.
Bloods that were sent to Manchester for rare mapping are not back...told that can take weeks.
Normal blood tests came back showing Gilbert's syndrome, high bilirubin, not surprised by that as his bother and DH has it.
His vitamin D levels are apparently in his boots! So he has a prescription for Vitamin D and calcium supplements.
Chest X-ray shows changes, the one he had as a toddler did as well but was dismissed at the time by ward doctor as the way he was laying on table. She has ordered a CT to see if Changes are CF related or asthma ( he was diagnosed with that last year)
Blood test did show mould sensitivity.
Lung function worse than at last visit.
He has a liver/abdomen US next week, if any inflammation in bowel is found she wants him to have colonoscopy to check for ulcerative colitis and chrohns disease. His stomach issues have got worse.
Also wondering if she is looking at something else as she measured his arm span...that is more than his height, felt the dent in his chest and remarked on the red rash he had on his chest....he gets that from time to time...normally when he is sweaty.
So I don't know what the outcome is going to be! Consultant did mention CRMS syndrome and said that two patients in her clinic who were thought to be just carriers with symptoms in fact had full CF after rare mutations were found. The reason why she said she had sent his off to Manchester, she is very thorough but said she wants him diagnosed correctly as he can then receive correct treatment.
Sorry for ramble, probably haven't worded it very well either.

Gosh, that was a lot to take in :(
Vitamin D will help, and has been shown to improve lung function as well as all the other benefits. If he has had gut issues he may well have other deficiencies, especially the fat soluble vitamins.
Did they take a throat swab/sputum sample to see if he is harbouring any infections at the moment?
Mould intolerance - did they mention aspergillus?

The cough swab was negative.
She didn't mention the aspergillus, would the blood tests pick that up?
We had a shower leak under the floorboards for a while before we noticed it...sorted now though. Would that cause the mould allergy? Can blood tests pick up allergies...I thought skin tests were used.

Did they mention Marfan Syndrome when they looked at his chest and measured his arm span ?

. They can test for IGe levels in the blood which would be an indicator that he was reacting to aspergillus ( it's everywhere, so even if he had picked it up it's not necessarily from your leak btw)
So sorry you're not getting any answers quickly, but good that this consultant seems thorough.

Just another CF mum, saying hello and sending some
Hope you get some answers.

Hi op, well done for making it through the appointment. It sounds like you've got a lot to take in which I know can be difficult in itself. It's good that the consultant is taking things seriously, even if they're not sure about the diagnosis yet. Do you have access to the full cf team at this point? I mentioned the psychologist before (for both of you potentially), and the specialist nurse can also be a useful resource and in my experience quite accessible.

If you feel up to it, the cf parents group on Facebook might also be helpful. Don't worry that you don't have a definitive diagnosis at this point - you won't be the first person to have joined in these circumstances. Some leave again when they get a different diagnosis and some stay; I'm pretty sure there are other parents there who don't have a clear diagnosis.

Which one is it?

I think it's just called cf parents. If you can't find it let me know and I'll see if I can get the link.

Sorry, it's cf parents group (it looks like there's a much smaller group called cf parents).

Thank you I have joined the group.

I'm glad you found the group. I think you need to message an admin before you can post to confirm that you're eligible for the group. If you do post then I'm sure you'll get a lot of support.