Re: Ordinary/gene penetration/response to Gale

[Guest guest]

Gale, all I can say is that the oldest cystic fibrosis patient in the

usa is (sp.) Shores of Aulander, North Carolina, who

is 78, carried double deltaf508, was diagnosed at 52, having had

two children and having been ill since birth. She is married and

husband still living, I believe (nocf), has two children and many

grandchildren. She has a site on the c-l Handbook. It is a pleas

ure to read. Her address for pen-pal exchanges as she no lon

ger uses the phone and does not e-mail, is: Shores

P.O. Box 172, Aulander, NC 27805. She is the one whose pedia

trician saved her life by injecting a formula of his design into her

stomach through the abdominal wall to feed her. Her story is

amazing. I have known several double deltaF508 cf folks who

survived into their late sixties when I was in my early sixties,

which means they were older than I, and I have known many who had few

symptoms at all until later in life with this same

mutation combination--it is simply the most common, but varies

widely in how it affects the individual. Of course, coughing can

indicate a need for a sputum culture or throat culture in a very

young child, but treatment helps everyone, regardless of seve

rity of disease. She will be having X-rays, which don't tell a lot,

and eventually fast CT scans (computerized tomography). Tomo

graphy is the study of the surface observed by this particular

form of radiation scan; they can see inside the airways and see

those tiny surfaces with a fast CT or an EBCT (Electron Beam

Computerized Tomography). They view one plane or axis at a

time, thus the term CAT (computerized axial tomography) scan.

Blah, blah, blah--you know me, gang!

n