CF or not CF

[anonymous]

Hello everyone,
I have been visiting this site regularly for the past several months. Needless to say, I have learned a lot from all of you.

I am a 37 yo that has had pulmonary problems frequently my whole life. When I was 5yo, I had been hospitalized with pneumonia 4 x and they tested me for CF, which was negative. I have coughed horribly day and night for months each year. I finally had a big exacerbation of pneumonia at the age of 35 which resulted in another sweat test (my Dr's idea) that was negative again. I have had pneumonia 5 times since then (only 3 of the times I was pretty ill, the other 2 were small illnesses). This resulted in genetic testing, which only tested for 32 of the "most common" genetic mutations and it stated that it was not FDA approved. I now have bronchiectais in the left lower lobe and although nothing shows up in the right side, I am not sure that it is immune to what is going on in the left. If I get a simple cold, I end up with pneumonia.

1) Should I be firm with my Dr and push to have better CF testing?

2) Is there a laboratory that does complete CF genetic testing (that is FDA approved)?

3) Do you check your peak flows daily? If so, what do they run?

4) (Afraid to ask this question) Am I crazy to think this might be CF?


P.S. I do not have any immune problems, lupus or rheumatoid arthritis. That was all check at age 35.

 

[Emily65Roses]

1. Yes. If you're worried about it, push for it.
2. Yes. It's generally very expensive and not all insurance will cover it, but with your constant problems, you may be able to get it covered. Both Ambry Genetics and Quest Diagnostics do CF mutation testing that tests (I believe) hundreds of mutations.
3. I don't check them.
4. No. Many many people here didn't get diagnosed until 20s or 30s. Many more have had several false negatives before they finally got a positive. It's sadly, quite easy to get several false negatives before you get a true answer. It might not be CF, but it sounds like it could be, and it's worth "officially" ruling out with the proper genetic testing.

 

[julie]

I'm the wife of a CFer so just answering based on what I know,

1) YES YES YES YES. There have been CFers diagnosed in their 50's (not sure hw old you are). Of course it's not common, but it happens.

2) As emily stated, Ambry gentics and Quest diagnostics. Both tests are very competative and for some, it boils down to insurance coverage. Quest is a co. that has been around for decades, Ambry is only a few years old. Many doctors feel more comfortable with quest and quest carries more insurance contracts than Ambry. Last I read, Ambry and quest both tested for 1,200 known CF mutations.

3) My husband never has.

4) You are not crazy at all. You are very wise to be interested in all testing that might reveal an answer for you. Many CFers test negative on the sweat test (there's a member here, has 2 children both tested negative on the ST, had a blood test and they both have CF) and later, sometimes months, sometimes years, and soemtimes decades later- have a genetic test and it answers all sorts of lifelong questions. So, no you are not crazy and you are wise to push for it.

Keep us posted on if you are getting tested and if you have any more questions,

 

[Faust]

@ original anon poster: Is this the friend of my sister Pam, that I talked to on the phone? (the chick who does nails at Mr. T's nail port). Sounds exactly like the female I talked to on the phone. Lemme know if it is.



BTW You never emailed me so I can't send you that info.

 

[anonymous]

No - I am not your sister's friend. I am someone that is trying to figure out what is wrong with me. I appreciate your replies. From the bottom of my heart - thank you!

Mel

 

[JennifersHope]

Hey Mel,

I agree with being tested. I really do think it is key, BUt COMING FROM someone who was dx in her late 20's I would highly recommend taking out all the life insurance, long term care insurance, disaster insurance, extended illness etc.

I took all of those out 5 months before I was dx. I lost a lot of the coverage or it was greatly reduced because I was dx within the 6 month clause.

I still have life insurance now, but it is only a small amount. Now that I am done with nursing school I don't know if it will increase or not as my salary does.

Cover all your bases, once you have the dx officically you can never take it back but if you have full coverage, you are better off. Also,I don't know if you are in between jobs, when I was dx, I had just started my job at the hospital I now work.. so they couldn't do anything, in fact they have been so supportive of me. But if you are looking for a new job, find it first.

They wanted to test my brother who is having fertility problems but no other health problems and he refuses to be tested.... I don't blame him, if he had health issues I would make him be tested


Hope this helped and didn't confuse you,

Jennifer

 

[Alyssa]

I agree with what everyone has told you -- no, you are not crazy, yes pursue full genetic testing -- wow interesting stuff from Jennifer about insurance -- I never would have thought of that!

Read the first post on my blog -- I talk about how my kids were late diagnosis and have "normal" and "borderline" sweat tests results -- YES people with CF can have a "normal" or "negative" sweat test.