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borderline sweat test

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Cystic Fibrosis
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Habiba
New Member
Joined : May 2014
Posts : 1
Posted 5/12/2014 4:53 PM (GMT -8)

Just wanting to offer hope to any parents who have received a borderline / inconclusive diagnosis from a sweat test.

This is the first time I've contributed to any kind of board ... but I really feel compelled to post.

Last year, I waded through so many of these sites trying to get a flicker of hope after my 9mo received a borderline sweat test of 32. Sadly, I got none ... and based on the evidence from specialists, resigned myself to the likelihood that my baby had CF. He had a prolonged rattle from birth, was very mucusy, and multiple hospital admissions for breathing difficulties. He was born full-term after IVF. An otherwise normal pregnancy. He passed the Newborn Heal Prick Test, which is commonplace in Australia. All his problems were respiratory, none were digestive. No failure to thrive.

In short ... after contracting broncholitis at 9 months, a paed recombined he get screened for CF. The test was borderline. We were referred to the CF Centre at a major children's hospital. After multiple tests (allergies, oxygen saturation, PCD, E&T, immunisation, reflux, barium etc), the specialists prepared us for the possibility of MILD CF. He also had staph and a couple of other bugs consistent with this diagnosis. This was absolutely devastating ... obviously. For two months, while we waited for the chromosome tests to come back, our bub was on nebs, steroids, and copious other meds. But then the genetic tests came back negative. They did another sweat and it was 28 (normal range). Our other child was 10 (completely normal). They ended up basically mapping his entire genome and it was negative for all mutations. After months of further tests, they established a low sitting larynx and thin tubes were probably causing the rattle. The initial sweat test was a random abnormality. The breathing difficulties are probably infant asthma. As he's got older, his condition has improved dramatically.

Knowing all I know about CF now, my heart breaks for anyone impacted by this horrible disease. My advice for parents facing this diagnosis - get to an accredited CF clinic asap. Don't bother with GP's/E&T specialists etc they just don't have the expertise with CF. And while I don't want to give false hope to anyone who may be going through a diagnosis period that is not clear cut ... rest assured a borderline result does not mean CF is inevitable. All the best

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Gemsi
Veteran Member
Joined : Feb 2007
Posts : 1050
Posted 11/28/2014 4:00 PM (GMT -8)
Hi there habiba,

Apologies for late reply, I have been missing in action and only just coming back to it this week.

A borderline sweat test is anywhere usually from 40-60 this can vary and it's a very grey area. The sweat test in some respects is a very good tool for diagnosis, if the results aren't in the grey area. Genetic tests should always be carried out aswell as the sweat test.

You are right that GPs while a good first response don't always have the best experience to diagnose something quite big like cf. There are other things that can mimic some CF symptoms like alpha-1antitrypsin deficiency, Asthma, general chest infections and bugs going round. I am glad to hear your son doesn't have cf and that his condition is improving, the unknown is always the scariest place to be.

I commend you for coming here and sharing your knowledge with other people so if they are in a similar situation they know it can happen.

Many thanks
Gem
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