Hi all, hoping for some advice or shared experiences.
Apologies, this may be a bit long winded but wanted to give as much context as I could.
My 3yo had a negative NBS for CF, but he’s had ongoing respiratory and GI issues since birth. Even when he’s well he will cough up mucus (just a lot less than when he’s unwell), usually when/after he’s running around.
Sorry TMI but it’s relevant - He’s had frequent mucus in his stools since newborn stage and still does, I’m talking almost every nappy. He has oily nappies sometimes too… he still goes in a nappy for number 2s because he’s afraid of going in the toilet, it takes him soooo long to go, bless him! They are very bulky, mushy, often extremely foul smelling (and foul smelling gas too, he could clear out a room full of adults!), sometimes with diarrhoea. He would suffer from constipation too but not severely, as in it sorts itself out. His stools have worsened recently (past month), ranging in the colours yellow/a paler yellow, orange/light tan, dark green, very dark brown/black (just the last 2 days - sticky consistency, like tar). I’m worrying this may be a sign of pancreas insufficiency. He’s still a healthy weight for his height and age but it looks like he’s lost some weight to me. I’ve weighed him but don’t have a weight from previous to compare him as we’ve never felt the need to weigh him before.
He’s had repeated respiratory infections, 2 hospital admissions (1 needing oxygen support during sleep), and countless A&E visits, mainly due to rapidly increased breaths per minute and a persistent, productive cough and coughing fits. Doctors have heard wheeze and crackles before, but sometimes another doctor won’t hear anything, usually not long after he’s just coughed, so I assume he’s cleared mucus. A chest x-ray at 20 months during his 2nd hospital admission, showed slight infection, but a follow up showed clear.
His skin is extremely salty (like sea water, especially his head), I understand it’s normal for sweat to taste somewhat salty but this is constantly - even when he’s not sweating and to the effect that even when I was giving him loads of goodnight kisses tonight, it left me with wrinkly feeling lips, the way they’d feel if you’d got too much salt on them, which has me concerned since a 1st and also a distant cousin has CF. Though his dad (my partner) and his sister who’s child it is that has CF have different dads, so we aren’t even sure what side the CFTR gene has came from and I’ve never had any reason to have genetic testing for anything CF related so unaware if I’m a carrier or not - same as his dad.
He was diagnosed with a CMPA as a newborn and was on Neocate for 1+ years, but his GI symptoms never fully improved, he just seemed happier in himself and he’s never had failure to thrive, so when I’ve mentioned this fact, it’s always been dismissed as there was some improvement. He’s finally been referred to a respiratory consultant, after being told he would be referred to the viral wheeze clinic at 16 months and again at 2.5y, but the referrals were never sent. His appointment is with a respiratory consultant that specialises in CF, and a sweat test will also be arranged.
In the meantime, I’m not sure whether I’m just having a bit of health anxiety over it or if I’ve genuine reasons to believe CF might be a possibility so I’m just wondering if anyone’s experienced a false negative NBS and their child has went on to be diagnosed with CF as a toddler, or if they know anyone that’s went through a similar situation and they would be willing to share their experience and the outcome.
Thanks in advance!