The Issue of Cystic Fibrosis

[Guest guest]

I have to thank everyone for their input in response to my CF query.

was given 2 sweat tests after my sisters baby was diagnosed with CF

at easter. The first was inconclusive, the 2nd negetive. However, I was

told this test is not 100% conclusive. As CF was suspected when

first began presenting with pnuemonias etc, the possibility seemed high once

we relised that CF was in our genetic family makeup.

He has never had a 'normal' chest xray, all 10+ have shown fluid in the

lungs, which seems logical to me as these were taken with each pnuemonia

infection. However, s new immunologist was very concerned with this

fact. A test Xray was ordered when he was well and I have been told it was

'ok', how much fliud, if any, was present I don't know, but I am thinking I

will now contact the hospital and ask for a copy of that report.

Autumn, I am aware of that article regarding single cf mutations. I had been

wondering at the time whether there was a possibility that my have

such a thing, and whether it even was a physical possibility. had

already had the DNA testing done. Over here, they only check for the 5

most common CF mutations in the general CF blood test. That had come back

negetive, so I was fairly confident CF was not an issue for .

However, I then checked with my sister which mutation little Cody has, and

made sure that this mutation was one of the 5. It was, so another

confirmation of a negetive result. The only niggle I have left is if the

mutation was single, would the test show that, or would it only pick up the

double mutation? Would a single mutation still show a negetive result?

Sussan, I am very glad that Abbeys result for CF was negetive. But if her

neutrophil count had come in normal, in what way would she have been treated

as a CF patient? I assume that would mean the enzymes, the CPT, etc. Would

she have been diagnosed with CF although the tests returned negetive? The

fact that her drs were so on the ball as to realise she would need CF

specific treatment even though the testing was negetive is great. I don't

know anything about Shwachman Syndrome, but hope it is more easily managed

than CF would be, and without the obvious implications.

Ursula, I was not aware that there are pancreatic sufficient and insufficient

variations on CF. And it does not surprise me, from my own experience

within my family, that it is thought one day there may be found a link

between pids and cf . I am sufficiently concerned now to talk over the cf

issue with the immuno the next time we see him.

Thankyou all, once again! Ray and Autumn, my thoughts are with you

while you wait for the results of and Autumns tests.

, mum to (5), and (2), both with Selective IgA def,

selective antibody def, asthma, hypothyroidism

[Guest guest]

This did'nt come through to my mailbox, so I am resending it in case others

missed it too.