Re: Waiting to know /response

[Guest guest]

Christy, first, welcome to this great list. Next, I am an adult (as in way

adult) person

with cf who is the mom of 3 adults, the youngest with cf also. We have

genotypes

that are now easily diagnosed through dna testing, but were not at the time

of my child's birth, much less mine, and as in your situation, we were not

offered the sweat

test, though today that and a dna test should cinch it. However, there are

some other possibilities which my child's doctor ruled out and your child's

doctors probably have, too. One of the most likely, in the unlikely event

that they cannot

prove cf (which doesn't mean she doesn't have it) is an odd lung condition

called

Ciliary Dyskenesia, which means that the cilia do not help the lungs clear

mucus and sputum--and yes, one can have both. Stool fat content varies; the

so-called " viruses " really concern me as a cf adult who has been through it,

fortunately rela

tively successfully, as has my aduld child. However, there are over 1,000

mutations

of the cf gene that conceivably could be tested for, some of which do not

cause high

sweat chloride excretion, though this is rare. I'm no doctor, but if this

were my child,

I would do the following:1) firmly request 4 sweat tests, as another parent

has recom

mended; 2)have as much dna testing done as your insurance will pay for; 3)

(last resort); ask a geneticist if they can determine whether your child has

CFTR deficiency (she or he will understand this; act like you do). Be firm,

and as she may

be one of those rare perrsons with cf, ciliary dyskenesia and celiac disease

(inability

to metabolize the protein of wheat, rye, oats and barley, have them test her

for that

by eliminating them from her diet for a week or a month. Even if it is cf,

she could

still be intolerant to the sugar in corn, to milk protein or milk sugar;

demand a nutri

tional consult to help rule these in or out. Love to you and your child,

n Rojas, the merciless patient and mother who has cf, one of 3 adult

children

wcf, one child who was violently allergic to wheat (not celiac syndrome,

which is a

metabolic disorder, easily fixed by avoiding the foods involved), and one

child who is

lactose intolerant--we'll spare you the rest and wish you the best!