Hi All,
Looking for a rant and some help please!
My son has constant chest infections, suffering with his poos either horrible smelling loose poo or rabbit pellet poos, blue lips and ftt.
Cf Sweat test was done which was borderline, yet dr refused to look into this further. However, after months of conversations, he finally agreed to genetic testing which would be a full panel of cf mutations as he agreed it would seem if cf, then it's possible it would be rare mutations. We got the call recently to be told all clear on cf mutations, which made my day, to then be told they only tested the common mutations so back to square one. Whilst we were waiting for genetics DS was getting no better, so they referred us to a cf team - they organised a second sweat test which DS didn't produce enough sweat (his skin is incredibly dry at mo so not sure if this has any impact as 1st sweat test he produced an abundance of sweat.) CF team advised not producing enough sweat is a good sign, he hasn't got common cf mutations and he doesn't qualify to be under their care but will ask for 3rd sweat test to be arranged.
Blue lips - I had mentioned this for six months and constantly told nothing to be worried about, only until I pulled up a photo did they become concerned with how blue his lips were going - investigations pending now.
We had a totally unrelated hospital appt at another hosp which consultant asked if all was ok was DS, explained challenges currently facing and consultant advised they would complete barium swallow. Barium swallow showed what looked like a slight leak in the oesophagus so arranged a EDP, bronchoscopy and a sample of mucus in DS lungs.
EDP shown no connection to windpipe which was amazing, however consultant mentioned DS had a lot of gunk in his lungs which they sucked out and will be sent for testing. He also mentioned his lower lung looks different to his higher lung, not enough to be alarming but it's noticeable but as we have referral to CF/respiratory team then they will investigate, however respiratory team have pretty much said we don't qualify to be under their care so back to square one.
I'm so fed up of battling drs to help DS, nobody can explain what's happening and the whole difference between lower lung and higher part of lung surely indicates something is up?
Has anyone encountered this before with lungs looking different from bottom to top?