Re: carriers/JILL

[Guest guest]

If an entire dna test were done this year by Ambry, my guess is that they would

find

the missing mutation, and that you do have cystic fibrosis. That said, however,

it

IS the case that there is a known " carrier state syndrome. " Stanford has

documented that for years. Sometimes it is difficult to distinguish between the

two. However, to be sure, today's technology can probably find that missing mu

tation. However, nearly one-third of all diagnosed cf patients live their lives

without any mutation having been found. In your situation, it might be cheaper

to

start with the pilocarping sweat chloride test done on the skin; ask them to set

it

for potassium chloride as well as sodium chloride. Another test is to have an

elas

tase test done on your stools and/or a stool fat study. There is so much

unknown

here, and you do indeed have symptoms more common to those with cf than those

who are carriers. Just typing out loud, here--for what it is worth, n

Rojas, wcf,

mom of three wild adults, the youngest of whom has cf, the other of whom are cf

carriers, one with several obvious symptoms, but not pancreatitis. Love and

good

luck to you, Jill, n Rojas

carriers

ok, here's my question. I hesitated to ask but I've finally broken down. I've

tried to find out about cf carriers and symptoms. As I've said before, I am a

carrier. I have the W1282X gene mutation. Since I save copies of medical

reports, I pulled out my gene mutation study. It was done in 2000 and it appears

they tested 33 " common " mutations. The report says that " this individual is at

least a carrier for cf... "

In the research I've tried to do, it seems to indicate that carriers don't

have symptoms. However, I have 3 of the " cf " symptoms- I have chronic

pancreatitis, chronic sinusitis and asthma. I know that there's probably a link

with the pancreatitis but what about the other 2?

I guess I'm wondering if anyone has seen any research suggesting that carriers

can be symptomatic. Possibly, it's purely coincidence, but I'm curious.

Thanks,

Jill- aunt to 6- 1 w/cf

[Guest guest]

It takes real creativity to spell like that! n

carriers

ok, here's my question. I hesitated to ask but I've finally broken down.

I've tried to find out about cf carriers and symptoms. As I've said before, I am

a carrier. I have the W1282X gene mutation. Since I save copies of medical

reports, I pulled out my gene mutation study. It was done in 2000 and it appears

they tested 33 " common " mutations. The report says that " this individual is at

least a carrier for cf... "

In the research I've tried to do, it seems to indicate that carriers don't

have symptoms. However, I have 3 of the " cf " symptoms- I have chronic

pancreatitis, chronic sinusitis and asthma. I know that there's probably a link

with the pancreatitis but what about the other 2?

I guess I'm wondering if anyone has seen any research suggesting that

carriers can be symptomatic. Possibly, it's purely coincidence, but I'm curious.

Thanks,

Jill- aunt to 6- 1 w/cf