Wrong DX

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Leah32

Guest
Sooo...I have a pretty unique story and I am hoping someone out there knows someone who has been threw something similar. I was diagnosed with Cystic Fibrosis at 6 months old by sweat test. For the first 4 years I was very, very sick. I was born in 1974 so I just went to my pediatrician and never a specialist. I started getting sick less often over the next few years but always had chronic constipation. My doctor at the time said I had a milder form of CF and I was basically treated for the symptoms. At age 15 I began getting sick more frequently and was sent to see a CF specialist. There I was told that my sweat test was borderline and I did not have CF. As I got worse over the next few years my family decided to take me to another clinic in the northeast. There I was told that I did have a borderline sweat test but the felt that I did have CF...but the only clinic in my state had told me I did not so I just continued to treat the pnemonia, and bronchitis,ext. I had to have my gallbladder removed, my colon resectioned, and continued to have lung issues (although they were not as bad a typical CF patients) Years went by of treating symptoms and I went to a doctor that convinced me to go to the adult CF clinic as I was having serious lung issues. I just got my ambry results back and guess what...no genetic mutation (which is wonderful of course) but....I am back to square one. Don't think for one minute that I want to have CF but I want to know what is wrong with me. Pulmozyme helped a lot and the doctor said I have bronchoecstasis but I think that is not correct because that would not explain all of the GI problems. They basically patted me on the back and sent me on my way. So what now? Anyone ever heard anything similar? Not sure what to do now. I mad an appointment with my pulmonalogist in 2 weeks. The CF clinc said make sure she puts my diagnoses as Bronchoestatsis and asthma...shouldn't they be doing that....anybody got any input?
 
Simba15

Simba15

Member
Did they do a blood test??

Leah32 said:
Sooo...I have a pretty unique story and I am hoping someone out there knows someone who has been threw something similar. I was diagnosed with Cystic Fibrosis at 6 months old by sweat test. For the first 4 years I was very, very sick. I was born in 1974 so I just went to my pediatrician and never a specialist. I started getting sick less often over the next few years but always had chronic constipation. My doctor at the time said I had a milder form of CF and I was basically treated for the symptoms. At age 15 I began getting sick more frequently and was sent to see a CF specialist. There I was told that my sweat test was borderline and I did not have CF. As I got worse over the next few years my family decided to take me to another clinic in the northeast. There I was told that I did have a borderline sweat test but the felt that I did have CF...but the only clinic in my state had told me I did not so I just continued to treat the pnemonia, and bronchitis,ext. I had to have my gallbladder removed, my colon resectioned, and continued to have lung issues (although they were not as bad a typical CF patients) Years went by of treating symptoms and I went to a doctor that convinced me to go to the adult CF clinic as I was having serious lung issues. I just got my ambry results back and guess what...no genetic mutation (which is wonderful of course) but....I am back to square one. Don't think for one minute that I want to have CF but I want to know what is wrong with me. Pulmozyme helped a lot and the doctor said I have bronchoecstasis but I think that is not correct because that would not explain all of the GI problems. They basically patted me on the back and sent me on my way. So what now? Anyone ever heard anything similar? Not sure what to do now. I mad an appointment with my pulmonalogist in 2 weeks. The CF clinc said make sure she puts my diagnoses as Bronchoestatsis and asthma...shouldn't they be doing that....anybody got any input?
Click to expand...
 
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Leah32

Guest
Simba15 said:
Did they do a blood test??
Click to expand...
They did a blood test with full Ambry genetic testing that showed no genetic component. They did not do a CT scan to verify Bronchoecstasis. I think they just gave me that diagnosis as default. Again, I am happy that it is not CF, please don't think I want that as a diagnosis, however, I just wish I had a diagnosis. I may never find out what it is but thought maybe someone out there had a similar story and had found out a diagnosis and received treatment. I still have that borderline sweat test, severe GI issues and of course lots of bronchitis, pnemonia. I have been sick every holiday since Thanksgiving and have not felt like traveling to see family. I just thought I would ask the forum before I accept the fact that I will probably never find out what this is and just go back to treating symptoms and seeing various doctors. The pain is the GI doctors alway give it a new diagnosis and then decide that one is not correct and send me to another GI specialist.
 
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Epona

New member
First of all no matter what diagnosis you're given, going on a GAPS (gut and psychology syndrome diet) most likely would help with the GI symptoms, and since all epithelial cells are connected, may clear up some of the lung issues too. I know that when I have GI distress, my lungs get more mucusy. A GAPS diet would at the very least remove any possible allergens and trigger foods that could be causing or exacerbating any issues, whether or not you have "CF".

It frustrates me that docs get so hung up on labels these days that if a person doesn't fit into a category, they just fall through the cracks. How about treating the PERSON for crying out loud! We're so disease-focused in this Western medical paradigm that sometimes we forget there is a person behind the label! Ugh. Anyway, were you tested to see if you have pancreatic insufficiency, i.e. does your pancreas produce enough enzymes and do you need to supplement with pancreatic enzymes? Have you ever used enzymes and if so did they improve your GI issues? Have you been tested for steatorrhea?

Also, it may be possible that you have a mutation that is "CF-like", that is, it is a mutation that tries to accomplish the same evolutionary task as what the known CFTR mutations do - prevent fatal diarrhea from pathogens and/or lactose intolerance. It may cause a change in the epithelial cells like known CF mutations, but maybe it's in a different location in the DNA? Who knows? But really, it doesn't actually matter. What does matter is if the CF drugs and the CF treatments work for you. If they do, then use them and ask the docs to give you the CF diagnosis so that insurance will pay for these meds. Cystic fibrosis is just a couple of words. The syndrome you have is pretty similar to CF, whatever it is. A smart doc (they are hard to come by these days) would diagnose you with CF, do all the typical CF tests and put you on all the typical CF drugs to see what happens.

What kind of CF clinic have you been to? Have you been to any of the big name ones, the big research hospitals? That's where the smart docs are, and they might actually be interested in helping you instead of just labeling you.
 
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Leah32

Guest
I went to a very large CF clinic that is a research center and I was pancreatic sufficient which was a little surprising. As a child a doctor actually put me on enzymes but through the years I took myself off them and really couldn't tell a difference. Thank you so much for your post it really helped me realize that you are right, I don't need a label, I just need to continue the treatment that seems to be working. I think the doctor thought I could continue the pulmozyme with the diagnoses of Bronchoecstasis but I checked and the only approved use is CF. That being said I have 1 year pre approved by my insurance so that buys some time. I am so glad you told me about the diet. I looked it up and will definitely give it a try. I definitely know what I eat affects my problem but this is a great way to weed out the things that are causing problems. I really appreciate you taking the time to respond. You have know idea how much better it made me feel!
 
Simba15

Simba15

Member
What state do you live in? If you are close to me I can give you a referral to a dr. I know. Amazing, I have CF and no one dx it til age 50 when i went to every doc under the sun. you either do not have cf or you have a genetic mutation they have no discovered yet. I had good success with paleo diet.

Leah32 said:
They did a blood test with full Ambry genetic testing that showed no genetic component. They did not do a CT scan to verify Bronchoecstasis. I think they just gave me that diagnosis as default. Again, I am happy that it is not CF, please don't think I want that as a diagnosis, however, I just wish I had a diagnosis. I may never find out what it is but thought maybe someone out there had a similar story and had found out a diagnosis and received treatment. I still have that borderline sweat test, severe GI issues and of course lots of bronchitis, pnemonia. I have been sick every holiday since Thanksgiving and have not felt like traveling to see family. I just thought I would ask the forum before I accept the fact that I will probably never find out what this is and just go back to treating symptoms and seeing various doctors. The pain is the GI doctors alway give it a new diagnosis and then decide that one is not correct and send me to another GI specialist.
Click to expand...
 
L

Leah32

Guest
Simba15 said:
What state do you live in? If you are close to me I can give you a referral to a dr. I know. Amazing, I have CF and no one dx it til age 50 when i went to every doc under the sun. you either do not have cf or you have a genetic mutation they have no discovered yet. I had good success with paleo diet.
Click to expand...
I am in Alabama ;)
 
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