Normal lifespan

Question

My baby has deltaF508 and R1070W and is almost healthy (details are in a previous question).
I found a study that shows the combination of the two mutations can lead to a normal life span. see below
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785447/

What kind of treatment and further investigations are recommended in this case?

I found another study that I could hardly understand, see below.
http://www.jbc.org/content/285/46/35825.full
Yet my little understanding is that there were done additional genetic tests that can say how much is affected the patient. Where can I do such tests? Or how should I interprete the above study?

Thank you

Answer

Thank you for your questions.

The studies to date show that individuals with this genotype (R1070W and delta F508) would have mild disease and a good prognosis. The current treatments are minimal at present and routine follow up care is all that is required at this stage.

With regards to your second question regarding www.jbc.org/content/285/46/35825.full

, could I refer you to an excellent answer by Prof. Dr. Liviu Pop who summarises this well, and of which I fully agree with. This is the link to the answer:
ecorn-cf.eu/index.php?id=65&tx_expertadvice_pi1%5Bshowitem%5D=1635&tx_expertadvice_pi1%5Bsearch%5D=


Best wishes,
Dr Stephen Rowan
Belfast

24.01.2012

The answer is edited by: Prof Stuart Elborn