Possible CF (input please)

alex852

New member
Hello all. I am a 20 year old male, and was recently tested via sweat test for CF. I received the call five days ago that I did not have CF due to the results, but I am not fully confident (as online research has led me to discover that in some, albeit very few, cases, the sweat test may produce normal results despite the patient having CF). Here's why I am not fully confident:


1) I was diagnosed with asthma at a young age--however, this asthma is so mild that it has a negligible impact on my life as of now. I need to take two puffs of my albuterol inhaler MAYBE once a week, if not less than that. I do not usually need it when I work out, and it hardly affects me in any way. However, when I was younger, I had a few more issues with it, and had to take breathing treatments once or twice a day. My mother was told that I a certain portion of my lungs was damaged when I was young, and I will never get usage of this part back (I cannot remember what part of my lungs were damaged). My father has asthma, more severely than I do. My mother has mild asthma as well. This is a point of concern because I know that many times in cases of late onset, early signs of CF are mistaken for asthma.


2) As a child, I had problems with intestinal blocking. I should say, rather, I had one major issue. It has turned into a story I tell my friends to be funny, but now I am a bit frightened. When I was about 4, I had a blockage in my intestine for which I had to go to the hospital and be hooked up to an IV. It was discovered that a piece of stool a bit smaller than a football had accumulated, and was responsible for the blockage. I know intestinal blocking is seen as a symptom of CF.


3) I have chronic sinus infections that occur around early April/late March and last until early June. I have always believed these are allergy-induced (I am allergic to everything: grass, trees, ragweed, etc.). My allergies are bad, and I assumed this was the cause. My physician would give me an antibiotic that would do nothing for me, and I would do my best to mitigate the congestion and allergy issues with Sudafed and Zyrtec, respectively. However, these infections were the cause of a surgery for chronic sinusitis I had. The surgery was ordered when I finally took my issue of annual infections to an ENT doctor. The surgery was meant to help the chronic sinusitis and permanent inflammation in my sinuses. It was 6 days after the surgery, during a followup, that the same doctor who performed the surgery told me I needed to be tested for CF. The test was just last week (the surgery was two weeks ago). I know, many times, adults who are diagnosed with late onset have had surgery for chronic sinusitis.


4) This one is a bit more personal and admittedly gross, but I want to express it. I often experience anal leakage while sleeping. While this is possibly attributable to a diet high in fatty, greasy foods (which God knows I have), CF is also a possible culprit according to some research I have done.


5) I have had thick mucus in my throat and nose for as long as I can remember. This has never been awful, and it has never caused huge problems. It doesn't make me cough, and I do not cough it up, but it is thicker than most people's (this was confirmed when the doctor told me I needed to be tested for CF--it was my thick mucus in my nose that made him think I needed to be tested).


6)For years (since middle school) I have had bad acid reflux. Multiple times per week I will have to take Tums to help it, as it is so bad that I cannot sleep. I have since started to take Prilosec, which also helps. My mom has very bad acid reflux as well. I know it is often a symptom of CF. However, I have noticed my acid reflux is not as bad when I eat less fatty foods.


Again, the sweat test results came back normal, and I am meeting with my doctor again on Monday (today is Wednesday) for a followup to the followup. It will be the first time I have seen him since I was told I needed to get tested, and I will certainly bring this all up with him, but I was wondering what thoughts you had. Thank you so much!
 

triples15

Super Moderator
Hi and welcome Alex,

I'm sorry that you are experiencing all of these symptoms. As you have read, it is possible to have a "normal" sweat test and later be diagnosed with CF via genetic testing. So in relation to that, a couple questions come to mind, the first being whether or not the sweat test was done at an accredited cystic fibrosis center? I would only accept sweat test results from an accredited center. My first sweat test, done at a local small town hospital, came back in the "borderline" range, but my parents were told it was negative-end of story. Luckily they kept pushing and got me to an accredited cystic fibrosis center where they did another sweat test, which was positive.

When you meet with your doctor on Monday, I'd ask specifically what your sweat chloride number was (if you don't already know). Or you could call prior to that to find out. If it was in the borderline (intermediate) range I'd definitely push for genetic testing. Also, if it was not done at an accredited center, I'd look into having another sweat test as your next move. Genetic testing is a lot pricier than the sweat test, and you would might play heck getting your insurance to cover it if the sweat test was in the very unlikely range.

Here is some info that may help you when get your sweat chloride number:

For people older than 6 months of age, a chloride level of:

  • Equal to or less than 39 mmol/L = CF is very unlikely
  • 40 - 59 mmol/L = intermediate means that CF is possible
  • Greater than or equal to 60 mmol/L = CF is likely to be diagnosed

Good luck to you and please keep us posted,

Autumn 34 w/cf
 

alex852

New member
Hello Autumn and thank you for the reply. I did not get my actual numbers from the test but I'll be sure to ask for them on Monday (I may even try to call the ENT tomorrow). My sweat test was done through nationwide children's hospital, and according to a brief Google search it seems that they have a cystic fibrosis "department." While the test was being conducted, I spoke at length with the woman conducting it, said she'd been doing it for years. Not that it necessarily means anything, but they all definitely *seemed* to know what they were doing. This has all been troubling, and my pessimistic nature won't let me rest easy or "let it go" until Monday. I can't. I ask myself "why am I having these symptoms?" And while it could be other things, my mind comes back to this. These are symptoms I've dealt with for years thinking it's just how my body is, and that's true whether I have CF or not, but you know what I mean. Thank you for the kind reply and information. I think I'll call for my sweat test numbers tomorrow
 

alex852

New member
Hey Autumn, just an update: after looking into it further, I discovered that the nationwide children's hospital in my area is an accredited CF center for both children and adults. My test was conducted at a "close to home" clinic, and the collected sweat was transported to the nationwide children's hospital downtown. In short, I believe my texts were analyzed by folks who knew what they were doing. This bolsters my confidence, but I will still contact the ENT tomorrow (technically today, it's almost 5:00 am). Thank you again for your reply. It's very nice when folks show concern
 

MichaelL

New member
I was tested as a child and determined to not have CF. When I was 34, I received a genetic test that showed I did have CF. Although my childhood results were destroyed long ago, I was given a sweat test within the last 10 years as part of a research test. That result was 33 -- a negative result as shown in the table above.

One thing to note about genetic testing -- I've read on here that the genetic tests are now often done for only the most common mutations. The mutations that produce negative sweat tests are less common, so these "mini-genetic tests" would still come back negative.

Good luck with your doctor's visit. I hope you can get some answers soon.
 

Str8Krazy

New member
My daughter was just diagnosed in January at 18, her first test was negative 38 if I remember correctly and a second one was positive 65. She did different arms for each. The genetic test came back positive. When we went to the CF center they actually ran 2 tests one on each arm said the right arm was positivethe same one that was before. So obviously it is possible to have a negative test.
 

alex852

New member
Hi folks. Original poster, here. I called my ENT today and got the actual numbers from my sweat tests. For both arms, the number was less than 10. Relieving, but my pessimistic nature still won't let me rest. I still plan to discuss with the doctor on Monday. Thank you for the replies, everyone's story helps me. Information is important,and hearing from real people rather than online medical encyclopedias is immensely helpful
 
S

swescott

Guest
I have a 9yr old son tested 3 times 2 borderline positive ND 1 negative. Where can we go to get help with testing or places with better knowledge?
 

triples15

Super Moderator
Hi folks. Original poster, here. I called my ENT today and got the actual numbers from my sweat tests. For both arms, the number was less than 10. Relieving, but my pessimistic nature still won't let me rest. I still plan to discuss with the doctor on Monday. Thank you for the replies, everyone's story helps me. Information is important,and hearing from real people rather than online medical encyclopedias is immensely helpful

Thanks for the update Alex. While 10 is quite low, I understand that you still have concerns. Did you meet with your doctor today? Hoping it was a productive visit!

Take care,

Autumn
 

triples15

Super Moderator
I have a 9yr old son tested 3 times 2 borderline positive ND 1 negative. Where can we go to get help with testing or places with better knowledge?


Hi and welcome Swescott!

So sorry you are in limbo on a CF diagnosis. Were your son's sweat tests performed at an accredited CF center? If so, after the borderline results, what did they suggest? In my opinion, 2 borderline results would be sufficient enough to move on to genetic testing. Does he have any symptoms of CF? If so, I would say that even further justifies the genetic testing.

If I were in your position and my child had 2 borderline sweat tests my next move would be to push for genetic testing. If his sweat tests were not done at an accredited center, I'd get to one asap. If you're already at an accrredited center and don't feel comfortable with how they are proceeding after the borderline tests you could get a second opinion at another center.

Good luck to you and keep up the good work advocating for your son!

Take care,

Autumn 34 w/cf
 

triples15

Super Moderator
Swescott:

You probably have this info, but in case it helps, here is a list of the accredited centers in New York state:

The Cystic Fibrosis Foundation provides funding for and accredits more than 110 cystic fibrosis care centers and 55 affiliate programs nationwide, including 96 programs for treating adults with CF.

The high quality of specialized care available throughout the care center network has led to the improved length and quality of life for people with CF. Located at teaching and community hospitals across the country, these care centers offer the best care, treatments, and support for those with CF.

New York
Albany Medical College
Albany Medical College (PEDIATRIC)
Albany, NY 12208
Appointments:
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(518) 262-6880
Director(s): Paul G. Comber, M.D., Ph.D.
Albany Medical College (ADULT)
Albany, NY 12208
Appointments:
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(518) 262-5196
Director(s): Jonathan M. Rosen, M.D.
Beth Israel Medical Center
Beth Israel Medical Center (PEDIATRIC)
New York, NY 10003
Appointments:
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(212) 420-4100
Director(s): Maria N. Berdella, M.D.
Beth Israel Medical Center (ADULT)
New York, NY 10003
Appointments:
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(212) 420-4100
Director(s): Patricia A. Walker, M.D.
Columbia University
Children's Hospital of New York Columbia University (PEDIATRIC)
New York City, NY 10032
Appointments:
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(212) 305-5122
Director(s): Hossein Sadeghi, M.D.
Columbia University, Adult Cystic Fibrosis Program (ADULT)
New York City, NY 10032
Appointments:
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(212) 305-0631
Director(s): Emily DiMango, M.D.
Good Samaritan Hospital (PEDIATRIC)
West Islip, NY 11795
Appointments:
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(631) 321-2100
Director(s): Louis Guida, Jr., M.D.
Mount Sinai School of Medicine (PEDIATRIC)
New York City, NY 10029
Appointments:
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(212) 241-7788
Director(s): Richard J. Bonforte, M.D., Andrew Ting, M.D.
New York Medical College/Westchester Medical Center
New York Medical College (ADULT)
Valhalla, NY 10595
Appointments:
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(914) 493-7585
Director(s): Lisa Paul, M.D.
New York Medical College/Westchester Medical Center (PEDIATRIC)
Valhalla, NY 10595
Appointments:
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(914) 493-7585
Director(s): Allen J. Dozor, M.D.
New York University School of Medicine
New York University School of Medicine
New York, NY 10016
Appointments:
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(212) 263-5940
Director(s): Robert Giusti, M.D.
New York University School of Medicine (ADULT)
New York, NY 10016
Appointments:
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(212) 263-7951
Director(s): Rany Condos, M.D. Nancy Amoroso, M.D.
Samaritan Medical Center (PEDIATRIC AND ADULT)
Watertown, NY 13601
Appointments:
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(315) 785-4046
Director(s): Melynne Youngblood, MD
SUNY Upstate Medical University
SUNY Upstate Medical University (PEDIATRIC)
Syracuse, NY 13210
Appointments:
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(315) 464-6323
Director(s): Ran D. Anbar, M.D.
SUNY Upstate Medical University (ADULT)
Syracuse, NY 13210
Appointments:
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(315) 464-6323
Director(s): James Sexton, M.D.
The Steven & Alexandra Cohen Children's Medical Center of New York
Long Island Jewish Medical Center Adult Program (ADULT)
New Hyde Park, NY 11040
Appointments:
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(516) 465-5400
Director(s): Rubin I. Cohen, M.D.
The Steven & Alexandra Cohen Children's Medical Center of New York (PEDIATRIC)
Great Neck, NY 11021
Appointments:
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(516) 622-5280
Director(s): Joan K. DeCelie-Germana, M.D.
University Medical Center at Stony Brook University (PEDIATRIC)
Stony Brook, NY 11794
Appointments:
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(631) 444-5437
Director(s): Catherine Kier, M.D.
University of Rochester Medical Center
University of Rochester Medical Center Strong Memorial (PEDIATRIC)
Rochester, NY 14642
Appointments:
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(585) 275-2464
Director(s): Karen Z. Voter, M.D., Clement L. Ren, M.D.
University of Rochester Medical Center Strong Memorial Hospital (ADULT)
Rochester, NY 14642
Appointments:
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(585) 654-5432
Director(s): Robert Horowitz, M.D.
Women and Children's Hospital of Buffalo
Women and Children's Hospital of Buffalo (PEDIATRIC)
Buffalo, NY 14222
Appointments:
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(716) 878-7524
Director(s): Danielle Goetz, M.D.
Women and Children's Hospital of Buffalo (ADULT)
Buffalo, NY 14222
Appointments:
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(716) 878-7524
Director(s): Carla A. Frederick, M.D.
 
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