C866y gene?

[jacqui]

Hi

I joined a little while ago on behalf of my friend who has twin boys. Meanwhile, the hospital took an age testing as apparently one son has one CF gene and one rare mutation. All the results have come back and apparently her husband (who has now left her) has the CF gene whereas my friend has a C866y mutation.

The son that is affected has both genes and the paeds are still discussing his treatment as apparently they do not know how it will affect him. At present he is on antbiotics but no enzymes.

Does anyone else have any experience of this gene?

Thanks
Jacqui

 

[anonymous]

From what little information there is on the web about it (do a search), it appears that it is a rare mutation of cf. I am assuming they are treating your friend's son for cf? As far as prognosis, no one can really tell you what the prognosis will be except to say that with the new treatments available today and the life expectancy increasing all the time, I would expect he should hopefully life a full life. Good luck.

 

[jacqui]

Thanks very much.
They havent recommended physio for him but he is on antibiotics so i guess they are treating him as if he has CF. Do you know if anyone can show any symptoms if they only carry one gene? This is probably pure coincidence but his Mum that carries the C866y gene has never been able to put weight on, however much she eats. She weighs just over 5st and is 5ft4in.

She is probably just one of those people but i did wonder. She also had a daughter who had a rare ring 8 chromosome(unfortunately she drowned when she was 4)but the geneticists don't think that the ring 8 was anything to do with her Mum.

Jacqui

 

[anonymous]

Jacqui, just out of curiosity... How old is this little one of your friend's? I have a husband with CF, not a child so this is an unfamiliar "department" to me, but I know that many many little CFers are having Chest PT done. Moreso as a precautionary at this age-to keep the lungs clear, but as far as I know it has prooved to be very beneficial. Just curious as to how old he is. Maybe parents of young ones will have a bit more input.


Julie (wife to Mark 24 w/CF)

 

[anonymous]

My son does breathing treatments, just albuterol and Pulmozyme. He does not do CPT, not the traditional way. My son's CF doctor said that giving him a good tickle, one that causes deep belly laughs, is all he needs right now. He also goes on the trampoline after treatments, several times a week. My son's problem's are mostly digestive and he hasn't had respiratory infection for almost three years. I certainly don't recommend doing this without consulting the CF clinic.