Wednesday, July 14, 2010

And the results are in ...

AMBRY results, that is.

My sweet doctor e-mailed me the results of my Ambry test today, even though he is technically still on vacation. I have a copy of the report which says:

DeltaF508 / p.S945L (with a 7T/9T variant)

"This mutation has been associated with severe pulmonary disease, elevated sweat chloride levels and variable pancreatic sufficiency."

I'm guessing that the first two charecteristics are typical to the DeltaF508 mutation and the last to the p.S945L.

I've been fortunate enough to have moderate pulmonary disease for the past several years and I've been pancreatic sufficient (for the most part - I have to take enzymes when I eat high fat / greasy foods).  I do have other unrelated stomach issues, mainly severe reflux and gastroparesis but that appears to be something that runs in my family.

Dr. C. said that he needed to do some homework because my second mutation is "very rare." He also mentioned that he believes it may be responsive to some of the potentiator drugs (VX770) and may also be related to some of the current research that he is doing, both of which he finds encouraging (and so do I!).

That's all the information I have for now.  After doing some digging on Google, I found several articles that mentioned the p.S945L mutation but none that gave good specific information about it.  A search of the Cystic Fibrosis Mutation Database didn't turn up much information either.

P.S. There is a small bitchy part of me that would like to say "suck it" to a doctor (who shall remain nameless) from my past that essentially told me I didn't have CF, just couldn't have CF and should never have been diagnosed as CF because I didn't fit the "textbook" definition. I guess I haven't been imagining things all these years.

5 comments:

Meredith said...

You had a doctor who said you didn't have CF?? What did he think you had, then?

Staceyb123 said...

Ah, we're in such similar circumstances with our atypical mutations. Mine is "unpredictable"... Wish there was more info to go on, but such is life with CF.

Take it easy!

tomncristy said...

I'm so glad you have a *good* doctor now!

Lovin Lane said...

So glad you got some answers... and glad you got a second opinion...

cmw5880 said...

Don't forget that he also said that you made yourself have that collapsed lower lobe that time. I never had any use for that SOB after that and I hope to God he is out of medicine where can not harm any other atypical CFers with his BS. Stupid jerk