Re: In Diagnostic Limbo...STILL!

[Guest guest]

I would say definitely Ambry. Not all mutations are found but I would think

it'd be more conclusive. I'm speaking from experience, somewhat, because

Ricky was diagnosed using the standard genetic test, back in '95. He has

Delta F508 and a rare mutation known as Q493x.

Becky

In Diagnostic Limbo...STILL!

I won't go into too many details of our 1st visit to the CF Clinic.

Let's suffice it to say, it was disappointing. My daughter's

medical records never made it into the doctor's hands so they were

not prepared for our visit. The doctor said he would have liked to

perform an NPD on her, based on her history, but that he would be

unable on this particular day since the clinic was " backing up " and

time constraints were in place. I had spoken with his nurse 5 days

prior to this visit and she was well aware of Bethany's history. I

even expressed my desire to have this test done. No..they scheduled

a repeat sweat (her 3rd), instead...thankfully still " negative " .

My question for all of you is: If you had to choose one test, that

could give you either a positive or negative CF answer, which would

it be: The NPD or the Ambry?

Thanks in advance to any response!

Polly, mom to " nearly 9yo " in diagnostic limbo (positive for 1

mutation-DeltaF508)

[Guest guest]

HI Polly,

My daughter is like yours, has 1 identified mutation and one unknown. She had

the Ambry test and still didn't find the other gene. She is considered to have

CF because of positive sweat tests and symtpoms, shes had 13 sinus surgeries and

has cultured pseudomonas and staph, and S. Maltophilia and sometimes

aspergillus. At this time her weight is good and she quit taking her enzymes,

she was getting a lot of constipation and we cut back and kept cutting back

until she was taking one regular ultrase, then she stopped that and has done

fine. Her doc says she has atypical CF. whatever, I just didn't want her

diagnosis changed so we can continue Tobi, pulmozyme and the vest.

I hope this helps,

mom of Nick age 21 nocf and age 19 wcf

PS So I guess I'd choose the NPD, does she have negative sweat tests?

[Guest guest]

NPD would be my choice. There are still unidentified mutations out there.

Dawn mom of 4, 7 and under, the youngest wcf