18 years old possible CF.

[Lookapancake]

Hi,

I have had sinus issues and stomach pain for a long time now and have also coughed up sputum a lot. Recently, I have been having pneumonia due to Staphylococcus Aureus (7 times now.) and hospitalized twice. My pulmonologist send me for a sweat test and it came back as likely having CF. In my most recent hospital stay, I also had a bronchoscopy which came back containing Aspergillus Fumigatus, Candida Albicans, and Staphylococcus Aureus and the doctor mentioned my lungs kinda resembled someone with CF and in my first stay I had been diagnosed with bronchiectasis.

Anyone ever have a similar situation?

 

[Michael Klein]

Lookapamcake,

First, love the name by the way! Second, has your pulmonologist ordered a genetic test? With a intermiediate sweat test level (which I assume was the results of yours) one either needs to be retested (which might/ might not make any difference) or the doctor should order a genetic test that screens for the most common CF causing mutations along with various other fairly common (but ironically uncommon I guess...) immune deficiences. Yes those bugs can be cultured from the lungs of someone with CF and the bronchiectasis and past sinus problems should raise some eyebrows - but bronchiectasis is just a general term for lung damage/ sometimes temporary lung damage and those bugs *can* be cultured from anyone: it's a matter if they are the bugs that are actually causing the infection. Candida Albicans can be a disease causing bacteria - it's also one of the most common germs to contaminate the mouth - Aspergillus Fumigatus is a Fungus which is very common and can cause infection. Most important thing though is to make sure all three of those guys are covered in your antibiotic regiment and that you start to feel better! So, it could be CF- it could also not be CF- you're going to need to undergo more testing to get an answer for that question. Hope you start to feel better soon! Those bugs are not fun to deal with...make sure to kick them in the hinny!

 

[GoryLori]

Hey Pancake,
THE GOLD standard for the diagnosis CF is the Sweat Test. Let me tell you I have never heard of a result coming back as "....likely having CF." It's either you DO or DO NOT or UNDECIDED. The cut off for diagnosing CF is a Sodium Chloride level (typically) GREATER than 60 mmol/L. The reference for that is http://www.hopkinscf.org/what-is-cf/diagnosis/testing/sweat-test/ SO what about those people who register in the 30-59mmol range? They might be classified as "Undetermined/Intermediate" but this is NOT that same as a confirmed diagnosis. The best information for you, would be to ask your primary care giver for the exact level of Sodium Chloride in the Sweat Test recorded on you. With that number, you will be honestly informed and can decide what is next. If you are indeed CONFIRMED as having CF (level greater than 60 mmol/L), then you can and should apply to the Cystic Fibrosis Foundation if you live in the USA (www.cff.org) to provide a paid for Mutation Analysis, done by Johns Hopkins, to see if they can find ANY CFTR mutations. So while it looks like CF and might be CF, the benchmark of TWO confirmed positive Sweat Tests are the current requirement for the CFF to step up and do the Mutation test for free. All details are on their website at this link:
http://www.cff.org/LivingWithCF/AssistanceResources/MAP/ . It must be difficult to not have a definitive diagnosis and still be sick. Congrats on taking a fee steps to try and figure this out. Now keep forging ahead and ask........always ask!! Hope this helps/.
GoryLori, 50, CF diagnosed at 6 months.

 

[JustaCFmom]

I hope you get your answers. See if you can get to a REAL CF specialist and an accreditied CF center versus a "pulmonologist". And, yes, get the results of your sweat test, preferably in print. Even if you are in diagnostic limbo, many people get the same treatment as CFers because it works. My daughter's lung functions went from 75% to over 100% in a few months ( and she gained 20 much needed kilos)

My daughter was coughing for an entire year & being ineffectively treated for asthma by a pulmonologist. We went for a 2nd opinion & that doctor sent us for the sweat test. That was positive both times and the genetics confirmed her diagnosis. Our path was pretty straight forward. She was diagnosed at 15 and her older brother was 20 at the time.

The CF doctors are experts in their field & know the disease well. A regular pulmonologist won't have that much experience with CF just by the nature of things. It is a relatively rare condition although it has gotten a lot of media.

Good luck & feel better!

 

[Lookapancake]

Hey Pancake,
THE GOLD standard for the diagnosis CF is the Sweat Test. Let me tell you I have never heard of a result coming back as "....likely having CF." It's either you DO or DO NOT or UNDECIDED. The cut off for diagnosing CF is a Sodium Chloride level (typically) GREATER than 60 mmol/L. The reference for that is http://www.hopkinscf.org/what-is-cf/diagnosis/testing/sweat-test/ SO what about those people who register in the 30-59mmol range? They might be classified as "Undetermined/Intermediate" but this is NOT that same as a confirmed diagnosis. The best information for you, would be to ask your primary care giver for the exact level of Sodium Chloride in the Sweat Test recorded on you. With that number, you will be honestly informed and can decide what is next. If you are indeed CONFIRMED as having CF (level greater than 60 mmol/L), then you can and should apply to the Cystic Fibrosis Foundation if you live in the USA (www.cff.org) to provide a paid for Mutation Analysis, done by Johns Hopkins, to see if they can find ANY CFTR mutations. So while it looks like CF and might be CF, the benchmark of TWO confirmed positive Sweat Tests are the current requirement for the CFF to step up and do the Mutation test for free. All details are on their website at this link:
http://www.cff.org/LivingWithCF/AssistanceResources/MAP/ . It must be difficult to not have a definitive diagnosis and still be sick. Congrats on taking a fee steps to try and figure this out. Now keep forging ahead and ask........always ask!! Hope this helps/.
GoryLori, 50, CF diagnosed at 6 months.

My most recent sweat chloride value was 68. He is now trying to get me into a CF clinic and has ordered genetic testing.

 

[GoryLori]

Hey Pancake, That sweat chloride result now puts you on the right track to be seen at a CF clinic, diagnosed properly AND receive treatment. Way to go!! From here in, you should receive more open communication and information IF indeed, you are diagnosed with CF. I am smiling as you might soon be on the way to better management of your issues. THANK YOU for having the courage to share your story with us and to ask for our experience. You rock!!
GoryLori, 50, CF diagnosed at 6 months. L206W & 591del18 are my CFTR mutations.