how do i know?

J

jchelle

New member
how do i know what gene mutation i have? i was told i have a mild case of CF but was never informed of the gene mutation, so how do i figure that out???
 
P

Printer

Active member
Wait until he does have insurance. I waited 53 years to find my first mutation and another 17 years to find the second one.

Bill
 
H

HuntersmomTBM

New member
How did your doctor tell you have have a mild case of CF without Sweat Test, Blood Test or Genetic Test? ~~~ Both my son's Sweat Test was 40. His blood test was negative. His genetic test was negative for mutations but positive for 7T/7T poly T variant. He has a diagnose of CRMS -Cystic Fibrosis Related Metabolic Syndrome aka a mild variant of CF. Is that the dx your dr gave you? Hunter has hx of Tracheobronchomalacia with Innominate Artery Compression and more....
~Colleen
 
P

piggylu

New member
My question as well..... If you were diagnosed with CF whether mild or severe, they must have identified at least 1 of the 2 gene mutations so call your Dr and ask for it/them. :)
 
L

LittleLab4CF

Super Moderator
With at least two gene specific CF drugs an argument for normally denied genetic testing could be made. Kalydeco, now on the market treats one specific mutation and acts as a CF moderator in some mutation groups. NJH is running a trial that could impact two thirds of CF patients so there is good reason to have genetic testing.

With "mild" CF presentation chances are very good that genetic drugs will not transform your life, just yet. Until Kalydeco became available, genetic testing was mostly fashion. Totally cool, CF is a monogenetic disease and it could be genetically confirmed. The funny part is genetics doesn't guarantee the disease. A person can be genetically confirmed with CF and have no CF presentation or a desparate presentation. With the drugs still showing rapid progress, soon it will be cheaper and better for everybody but for now conventional treatment for respiratory/GI issues are the same with no influence of specific genetic knowledge.

LL
 
K

kots66

Guest
LittleLab4CF said:
With at least two gene specific CF drugs an argument for normally denied genetic testing could be made. Kalydeco, now on the market treats one specific mutation and acts as a CF moderator in some mutation groups. NJH is running a trial that could impact two thirds of CF patients so there is good reason to have genetic testing.
Click to expand...

What is NJH? And what trial are they running? Thanks!
 
L

LittleLab4CF

Super Moderator
.National Jewish Health sorry. And the mutation and drug I can't find the abstract on so I am going to go with what a GUESS. It was DF508 or such. This mutation gets named and confused with several others with the delta character not always available and some use delta for del(etion). NJH has both a newsletter and a website. It was one of the earlier establishments in Denver CO originally as a TB sanatorium long before it was known as TB. As a world leading respiratory center NJH has pioneered treatments for CF and continues to. Check their website to confirm and inquire about CF trials. Some exciting work is also being done in CF intestinal motility.

LL
 
N

nmw0615

New member
I'm currently a patient at NJH and will be participating in the study as soon as it is available to me. I've been talking with the research coordinator already and can't wait to get on this trial.
 
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