Hi I'm writing as I am really worried. I received a letter today saying my sons sweat test results had come back intermediate (basically borderline) but because he had, had a faecal test done aswell which has come back normal the consultant has wrote that this excludes Cystic Fibrosis, and he will discuss it with me when I see him in May?! Should he not be getting him tested again with the sweat test? I don't understand why it was neccerary to do the sweat test if the faecal test ruled it out. My son is 5 nearly 6 has failure to thrive. I just feel like I'm being fobbed off! Has anyone had an experiance like this don't know how I'm expected to wait till May tbh.
Hi. My daughter has had similar issues. First tested positive amd had the genetic test which was negative ( although doesn't exclude all mutations) So repeated sweat test... positive. Elastase in poo was normal so forgotten about. At a different hospital. 3 more sweat tests .2 positive one negative. Turns out she has a probable problem.with glucose storage..still waiting on results but this can cause a false positive Hope you get some more answers
A normal faecal elastase wouldn't rule out Cystic Fibrosis, though does indicate his pancreas is functioning normally. Pancreatic function can vary in people with CF. I would certainly push for a repeat sweat test. Does he have any other symptoms?
I know this is a month old but what happened in the end @K360 ?
My son had a result of 45 on his sweat test a couple of weeks back. On Monday they repeated it and I’m just waiting for them to call me about the results. They also took a stool sample. He is symptomatic, constant chest infections and needs prophylactic antibiotics and has done for a few years.
That's incredibly tough. NK346 but the Brompton is the absolute gold standard in CF care so you will get good treatment. Dd had a second rare mutation and had bloods sent to Manchester but it was 5 years before they found it. ( she did have a positive sweat test though, so was treated as having CF from six weeks)
bubble they have discharged him back to our local hospital for them to decide how to treat/following him. Brompton hospital appointment was a bit upsetting as consultant said because of his carrier mutation he has a high chance of being infertile because of CBAVD, I knew men with CF were but didn't realise it could affect carriers too. How did they find your daughter's second mutation five years later?
NK as I understand they test for the most common mutations first. CF is very predictable geographically and around 80% of people in the UK have one mutation ( my DH carries this). After this they move on to look for the less common mutations but there are so many (around 1800?) of these it can take years As it turns out the mutation I carry is fairly common in certain parts of Europe but virtually unknown here.