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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

CF

1 reply

Klauren · 28/10/2021 09:07

Hi all,

I wondered if anyone here had a baby/toddler/child with CF and can give me some advice?

A bit of background...

My son was born at 30 weeks, he had a rough start and was ventilated, had respiratory distress syndrome and after 44 days we were able to come home. He's now 22 months

He has always struggled to gain weight. He was on a very high calorie formula until he was 10 months old. He eats so much though that I just don't understand it.

Which leads me to the next thing...

I worry he has CF. I know that sounds crazy but here's why.

  • he pops about 5/6 times a day and to me it looks like undigested food is contained in it.
  • He has a chronic cough every single night that wakes him up multiple times (and us)
  • consistent snotty nose
  • enlarged adenoids and tonsils
  • He's been prescribed inhalers for asthma but they aren't really helping.
  • He's gained 1kg in the last 10 months.

I don't know whether I should be asking for a referral? His newborn screening was clear but his little chest just can't be healthy.

I have to almost tap him on the back and chest to help him shift it as he's just constantly got phlegm/mucus build up.

Thank you if you've got this far and can help! :)

OP posts:
Imitatingdory · 06/11/2021 19:48

Whether it is CF or not, and there are other things that could explain DS's presentation, it sounds like DS could do with a specialist review. Have you spoken to your GP, and was DS followed up post discharge?

Newborn screening doesn't detect all cases, it looks for the most common mutations. There's also some questions over it's accuracy in premature babies with both false positives and false negatives.

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