CF testing, at 23?

[Dancingintherain]

Hey,

I don't know where to start with this one - first off, i'm 23. I have a lot of health problems, and also have a lot of friends with CF because of being in hospitals a lot. I've always been told I have very brittle and unstable asthma, and that because of my asthma I get lots of infections. However its got to the point where I am in hospital every few months, my lung function is rapidly dropping and we cant seam to get the infections under control. So I was referred too another hospital (Papworth) which specializes in CF/ Non-CF bronchiectasis and recurrent difficult infections. They have ran lots of tests, one of which was a sweat test, and that came back positive. I am now waiting or the genetic testing to come back, which is taking ages, as apparently the sweat test is not always reliable - I have been told not to worry about it until we have too. Though naturally I am!

The low down on my health is that I was diagnosed with asthma at 8 after a nasty bout of pneumonia, from then on I had a couple of infections a year and needed a fair amount of asthma medication to keep me stable. Then when I was about 17 it all went down hill to where I am now, currently, diagnosed with severe asthma, with frequent infections. My last CT showed that I have mucus plugging of the left lobe, atelectasis of the right middle lobe, widespread air trapping, lower lobe bronchiectasis and 'small airways disease'. My last lung function tests showed that i have about 48/53% lung function so as you can imagine my lungs are pretty knackered! I am in hospital about every 2-3 months for a couple of weeks because I need treatment for a 'life threatening' asthma attack and a course of IV antibiotics. I've grown things like Pseudomonas too, and I am on oral prophylactic antibiotics. So in terms of respiratory problems I have a lot of problems which people with CF have.

I also have diabetes, and I am on about 5 injections of insulin a day, which has gradually increased over the past few years as my blood sugars have become harder to control. This far it has been put down to the steroids, which can cause diabetes, but my diabetes consultant has said that it could also be down to problems which come from having CF. I have problems with my stomach too, and its safe to stay that my bowels are in no way normal and are really not nice!

Do you think that it sounds like they really could have missed the diagnosis for the past 23 years? If they had, wouldn't I be much worse by now because I haven't had the correct treatment?

Thanks!
Kirsty.

 

[Aboveallislove]

I don't know the location, but are you at a CF Center? I don't even know if out of US they have those. But I've never heard of the "sweat test might not be accurate" from a CF Center. Everyone says "sweat test" is gold bar. Frankly, everything you write says CF. While you wait for the results from genes, can you start the treatments and normal CF protocol? Have them test your stools to see if you are pancreatic insufficient and if so you need enzymes. You should have a regular bronchial dialator 2x a day, an airway clearance (vest, etc.) 2x a day, hyper-sal and Pulmozyme and Qvar (or whatever for asthama). How long did they say on the genetics? Are they doing a full genetic screen? I am so sorry but if they finally get the diagnosis right you'll be so much better with proper treatments. And depending on the mutations may have some other meds that could help a lot! Hugs and prayers,

 

[Hail2Pitt]

I agree with everything Aboveallislove said.

I had a lot of health problems growing up, and then some really severe ones in my late 20s. I finally made my way to Johns Hopkins where they did the sweat test, and it came back positive (I was 29 at the time). I've never heard the "sweat test might not be accurate" from a CF center either. When mine came back positive, I asked if perhaps it was a false positive, and they said no. The genetic testing later confirmed it and identified my mutations.

To be frank, you don't need to worry. If it turns out that you do have CF, you'll finally have an answer to lifelong questions you've probably had about your health. And, a whole new world of treatment options will now be available to you. While I didn't like hearing my diagnosis and had some difficulty accepting it, I'm so much healthier now that I'm following the CF treatment regimen.

Are you seen at a CF center? If not, I'd recommend finding the closest one nearby - you can find them on cff.org.

Please keep us posted, and I'll be keeping you in my prayers!

 

[MichaelL]

I was diagnosed at age 34 with CF by genetic testing. I had been tested as a child but the sweat tests said I did not have CF. When I got the genetic test results, I found out that I have a rare mutation that results in negative sweat tests for the majority of people with this mutation. I don't know if there are also situations that work the other way (i.e., positive sweat test and negative genetic test).

You don't mention GI symptoms, so I'm not sure if you're having them or not. Many people who are diagnosed as an adult deal with more lung problems than GI problems.

I agree with the comments above that if you have CF, you'll finally be able to get the right treatment. I was sick for several months leading up to my diagnosis. Once they knew I had CF (and pseudomonas), I received the proper treatments and was feeling better soon.

Your profile says that you're in the UK. If you haven't already, you might want to also check out the Cystic Fibrosis Trust forums: http://forum.cysticfibrosis.org.uk/index.php?sid=a0b91f81a1bd1807aa62e31f116ba1e4 I'm in Canada and I follow both the US and UK forums.

I hope you get results soon and that they can help you feeling better.

 

[Beccamom]

I was diagnosed at 35 and at 38 I feel better with proper treatment. I hope you find answers and better treatment. Do you do any mucus clearance?