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Sweat test

(10 Posts)
helensburgh Sat 15-Oct-16 21:14:49

So my 5 month old son had a sweat test done routinely due to poor weight gain.
Unexpectedly came back at a level.of 64.
Genetics however came back normal.
Repeated sweat test back yesterday and is apparsntly off the scale so much so it is not linked to CF.
Our consultant isn't specialist in this area and is going to research things but we are worried and don't understand what's going on.
Does anyone know if all CF mutations are identifiable?

NK346f2849X127d8bca260 Sun 16-Oct-16 13:17:11

My son is a carrier of one of the more rare mutations seen in this country and the letter (after blood test was sent to genetic screening) to the paediatrician said if she was still concerned they could look and see if he had another rare one.

NK346f2849X127d8bca260 Sun 16-Oct-16 13:22:06

I would ask to be referred to a CF centre.

user1471530109 Sun 16-Oct-16 13:29:26

My dd (was prem 29 weeker) also had a sweat test for exactly the same reasons. In fact,she 'failed' 4 or 5 retests. I was repeatedly told that due to her size,the sweat test was inaccurate. So we would wait another few months and retest. Genetic tests came back as normal, but we were warned that they only tested for the common mutations.

Anyway. She finally 'passed' at around age 2.5. she is still v underweight but they've exhausted all reasons and she is healthy etc. We are under an endocrinologist now and under observation (3.5).

I remember how stressful it was and I'm sorry you haven't got an answer. Hope my post has reassured you slightly.

AnyFucker Sun 16-Oct-16 13:33:19

I would ask to be referred to a specialist CF centre and that your baby have further genetic testing for the (I think could be 4% but my knowledge is probably out of date) mutations not included in the standard screen

Good luck thanks

Tiredstressed Sun 16-Oct-16 20:23:56

There are thousands of mutations and so the standard genetic tests that they use to screen for cf to only pick up the most common ones. I would definitely ask to be referred to a specialist centre.

Tiredstressed Sun 16-Oct-16 20:24:44

I hope that all is ok.

helensburgh Thu 20-Oct-16 21:52:03

That's everyone. Seeing paediatrician early next week going to ask

Bubble2bubble Fri 21-Oct-16 12:19:01

You need a CF specialist, don't be fobbed off with anything else.
If he has CF symptoms they will treat him as if he has it, unless proven otherwise.
Dd has one rare mutation which they didn't identify until she was five, and was not one found in the normal screening.
So sorry, you must be desparately worried.

thatwouldbeanecumenicalmatter Fri 21-Oct-16 12:30:29

((hugs)) DS had the sweat test, I wasn't told it was only for the most common CF mutations, so got an awful shock googling (I really wouldn't recommend it). Agree with PPs that they get further tests done. I'm so sorry you must be out of your mind with worry/stress sad thanks

user1471530109 We've had the all clear from the Endocrinologist etc it took four years from first symptom and he's still scraping along on the bottom of the percentile weight chart but he's happy and healthy - so just wanted to say there's light at the end of the tunnel thanks

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