Re: I have DNA/KRYSTENA

[Guest guest]

Krystena--Good Afternoon! What this idiotic report does mean is that

they have found a mutation known to be liniked to another and that your

son most certainly does have cystic fibrosis and that they are going to

look very hard for the very rare mutation suggested by their findings.

They are doing it all, but they guy who is writing this stuff to you sure

does not know how to explain what he is probably doing very well. The

positive thing here is that the diet which Caden is now on is often very

beneficial to patients with cf. Hold on (to something!) This may mean

that with enzyme treatment (capsules), your son will have less effect from

his essential fatty acid disorder. I have web-searched to death to

pull a short post out (well, short for me), rather than send you a bunch

of junk--at least until you get the ultimate results!

Love to you, to all in your family, and to Caden; he is making medical

history for people with two diseases! They should be paying your family

plenty!

I can only explain that a " deletion " is what part of the total, comples

protein is not being expressed due to lack of CFTR; every mutation and

every allele of one is a " deletion " from the CFTR at some point, and as

CFTR and its mutations and alleles appear as a large gene on a large

chromosome (7), this may take longer than anticipated.

Do you know what ethnic origins all of the branches of your family had?

This often leads them in the right direction. For example, they only found

my second mutation, along with some strands of a third, from a

mutation so far only found in Italy, from where my maternal grandmother

comes. My original tests were submitted under my married last name,

which is German, STEINKELLNER, which further confused the issue.

My e-mail address tells it all, however, consisting of M for n followed

by " cesana " or Cesana, which was my mothers maiden last

name, and is Italian, pronounced as if it had an h, " chesana. " This fact

led them to my second mutation, R1162X, the first being DeltaF508,

the fragments being R553X.

Clear as sputum?

More love, to all at cfparents,

n Rojas, for whom life is always complex, but fascinating!