CF at the age of 58 years and with 100kg

Vraag

When I was 16 I have been diagnosed with CF after a sweat test in a specialized hospital for lung diseases in Bremen. My brother died of this disease at the age of 38 years.
As I have been in an extraordinary good condition until 2 years ago, I did not bother about this disease. At the end of the year 2004 and beginning of the year 2005 the problems occurred. I have been admitted to the hospital because I had only 50% oxygen in my blood. At that time point I had been living in Spain for already 15 years and since then I have been started on a therapy against asthma. I tried to persuade the physicians that I was suffering from CF, however they only laughed at me. They said I was too old and too big for this disease. They gave me cortisone and that was it .
Therefore I had to bite the bullet and did a DNA-analysis on my costs. Of course I do hardly understand the result. In addition, I do not have the possibility to contact a CF specialist here in Spain, as there is only one children hospital near Valencia and they don’t take me there.
So this is my request to you: what does the following mutations mean: : S549N, S549R, R553X, G551D, V520F, I507del, F508 del, 3876 delA, 1717-1G--A, G542X, R560T, 3120+1G--A, A455E, R117H, 394deITT,2183AA--G, 2148delA, 2789+5G--A, 1898+1G--A, 621+1G--T, 711+1G--T, G85E, R347P, R347H, I148T, W1282X, R334W, 1078delT, 3849+10kbC--T, R1162X, N3656delC, 3905insT und polimorfismo: 5/7/9T.
I would be very grateful for your help. I would like very much to quit the cortisone therapy and to prove the normal lung physicians that I am not suffering of asthma.
Please help me….Many thanks.

Antwoord

Hello,
Of course we can try to look through the large amount of information and to explain it. However, this is typically the duty of the geneticist, who is also performing the genetic tests, as the test is only one part of the genetic counselling. As you have realized for sure, we are not allowed to make a diagnosis this way (i.e. on the net; see disclaimer). Before we are consulting our geneticists, we are asking you to get in contact with the Spanish patient organisation (www.fibrosis.org/). There you find so many subgroups of the regions of Spain, that I am sure: there is a competent address near your home. If you still have questions to us after having contacted a local CF specialist and after having consulted the geneticist, who performed the genetic analysis, we are happy to be at your disposal.
Yours sincerely,
Prof. Dr. TOF Wagner

12.12.2007