Should I do full genetic test?

[Nervous1]

Hi Everybody,

I've haven't posted on this site in a long time, but I read and learn from all of you regularly. I'm a 50+ woman with bronchiectasis and chronic sinusitis. I was diagnosed 13 years ago after my 6th case of pneumonia left me with a collapsed lung and in bed for a month, and a cough and SOB that wouldn't go away. I was tested for the 13 prevalent CF mutations for people of my background, and no mutations were found. For years though I've been wondering whether I should do the full CF sequencing. All the docs say no need, that the chance it would be positive is incredibly small. My daughter has asthma and was evaluated at a CF center and even they said neither of us needs full sequencing.

When I was first diagnosed with bronchiectasis my FEV1 was 75%. I'm doing much, much better now thank goodness ... a large extent to reading your posts on this site and from finding a doctor that has me on some of the CF regimen even though I have no CF diagnosis. My FEV1 is now up to 100% and I haven't had a major exacerbation in a whole year!

Treatments:
* Hypertonic saline twice a day
* Nebulized colistin every other month
* Seretide inhaler
* Nasocort for sinusitis
* Alternating oral antibiotics Zeto / Doxycilin - For a while I was on them 10 days of every month, but things have improved and I'm now using them only for exacerbations
* Regular exercise
* Less travel for work

What do you think? Should I have the full sequencing done? I don't live in the US or UK, so unfortunately suggestions of going to a different CF center aren't a solution for me. I'll have to do it privately if I decide to do so.

Thanks in advance for your thoughts!

 

[Printer]

You were tested for 13 mutations, there are almost 2000 known mutations, any two (2) will cause CF. You do the math.

The problem is going to be, getting your insurance Company to pay for a FULL CF SEQUENCING. If you can get past the cost/ insurance issues, absolutely have it done.

Stop dealing with your PCP regarding this issue and see a CF Specialist at an Approved CF Center. John Hopkins would be my choice.

Bill

 

[Printer]

OPPS, your profile states that you live in New Jersey. Perhaps you could schedule a trip home and at the same time a trip to John Hopkins.

 

[Aboveallislove]

From your post it sounds like you mean you would be paying out of pocket, and not trying to get insurance to cover it. I think it would make sense to do to know whether you have 2 mutations that could benefit from the drugs out there (and for your child/children/grandchildren down the road.) And with a diagnosis "in hand" the doctors might treat issues slightly differently. That said, you could also ask yourself "what would change if I got the diagnosis, and know the mutations?" If nothing, then that might answer the question of whether to pay for it. But I'd think it would change options in the event there are 2 CF mutations.

 

[stephen]

Some of your experiences sound like mine. I was also diagnosed with bronchiectesis long before the CF diagnosis.

Since it sounds like you're doing ok and you would have to pay for the DNA testing yourself, the only benefit of the CF diagnosis might be access to Kalydeco. If it would available to you, I would advise going ahead. It did wonders for me!

Note: if you lived in the U.S. the CFF website says they would pay for the testing.

I I would love to respond further but I'm traveling and it's difficult using my iPhone. I will try to provid more info next week when I return to the U.S.


Sent from my iPhone

 

[Nervous1]

Thanks everybody.
Seems the consensus so far is that I should do the testing.
I agree that if it is positive, it's important for my kids and future generations to know.
Whether or not it will change my treatment, I'm not sure .... and would of course depend on the mutations found.

Stephen - I would greatly appreciate any pointers once you're back. Have a good trip!

 

[jaimers]

I would agree with the others to get it if you can. Like Printer said, there are a lot more mutations out there than the 13 you were tested for. It sounds like your current treatments are working well for you and those wouldn't stop if you were diagnosed with CF but a diagnosis could give you access to kalydeco or orkambi that would require a CF diagnosis. Best of luck!