Cystic Fibrosis Concerns / Incorrect Newborn Heel Prick Test

[CoffeeMama1]

Has anyone got any experience of a newborn heel prick test coming back negative and then later on finding out the child does actually have one of the conditions?

I'm getting increasingly worried my 18mo might actually have cystic fibrosis but feel like I'm kicking up a fuss over nothing and I'll just be told her test came back negative so it won't be that.

She has so many of the symptoms. Since October she's had a consistent cough, been in hospital on oxygen and a nebuliser for 4 days, had 3 rounds of antibiotics for constant chest infections, and we've noticed her ears are more yellow than usual, she hasn't gained any weight since Christmas (when she lost a lot due to hospital stay- she was tube fed), and she has always had those salty fear stains when she cries.

Obviously I want to be told I'm being ridiculous but any advice or experience would be hugely appreciated.

Theres no family history of the condition either side.

Just ask for a test - it is quick and easy, isn't it?

if you have any concerns you need to speak to the GP. DH was misdiagnosed with all sorts (pre heel prick days though) until he collapsed and he ended up in hospital where CF was finally diagnosed. I recently saw a poster on here who’s husband has only just been diagnosed as they were TTC. It is possible for rarer CF genes to not be picked up on a HPT.

www2.hse.ie/conditions/heel-prick-screening/conditions/cystic-fibrosis/

Important
The heel prick will not detect all babies with CF, especially if they have a rare copy of the altered CF gene.

If you think your baby may have signs of CF, speak to your GP.

Dc2 had similar symptoms and I requested referal to respiratory consultant (we have a family history of respiratory problems). As part of testing they did do a sweat test to rule out CF. It wasn't cf. They also did lung washouts, camera into lungs and biopsies. Was eventually diagnosed with tracheobronchomalasia.
There's lots of reasons dc can have these symptoms best to get them checked out.
Dc had a semi permanent line fitted and iv antibiotics administered for a while, then oral antibiotics three times a week for 8 years with more when needed. Dc is 14 and is great now and only has problems when ill.

The heelprick bloods are a good way to identify medically important conditions across a whole population. But if there are relevant symptoms they wouldn't be interpreted as an automatic clean bill of health.

If you have your child seen the GP can make a decision based on the history, watch & wait, seek advice or refer based on how that assessment goes.

Thank you all so much, I have sent my concerns to the GP so just waiting to hear back from them, and I've also contacted a health visitor just to see if they have by advice or can support at all. Thank you all, i really appreciate the support x

My son has had loads of problems with chest infections, weight gain, digestive issues. He was eventually diagnosed as a CF carrier.

The newborn screening test does not identify all babies with cystic fibrosis. If you have concerns please tell your childs doctor/consultant
The gold standard test for cystic fibrosis is a sweat test - ask for one of those.
Genetic testing but some rare mutations may require the whole CFTR gene to be sequenced and this can take some time. Generally a sweat test will be performed first.

Both of my children were tested (a sweat test) for CF at a later stage despite both having passed the day 5 blood spot tests, like your child they had lots of signs and symptoms of CF so their consultant ordered the test.