Closed topic: Functional bowel problems & other (chronic) health problems. All mucoviscidosis (cystic fibrosis (CF)) related?

[Meleber]

Hi, just came back from my GP. I managed to convince him to refer me to the Cystic fibrosis specialised unit of the university hospital in the neighbourhood. I now hope they are willing to see me.

[Maureen1958]

I'll keep my fingers crossed for you. 🤞

[Meleber in reply to Maureen1958]

Thanks. That's two keeping their 🤞🏻💩

[Mwaakas]

Hi meleber, what symptoms are you experiencing and what is the major one troubling you the most?

[Meleber in reply to Mwaakas]

Hard time with not losing more weight, staying at weight. A lot of gas in the small bowel, distension, chronic partial obstruction in my (lower) right side and problems with digesting fat amongst others.

[Meleber]

Just been called by my GP. He received a phone call from a consultant of the University hospital. He or she told my GP that, also because of my age (53), it's almost impossible that I could have (a mild form of) mucoviscidosis. How can someone tell that I don't have a sickness/syndrome/disorder without having seen me? This physician isn't aware of my complete medical history, as from my birth till now. Not really a scientific approach in my opinion. Quite disappointed by this. That's why I did request a second opinion from a medical specialist in Belgium.

[Meleber in reply to Meleber]

Did ask for a second opinion done by a medical specialist in Belgium. I've been told that I will receive an answer by the end of the week. If she or he sees reasons to invite me for a consult 🤞🏻 it will mean I've to travel for more than 4 hours to the University hospital at Leuven, Belgium. But this is something I would be 'happy' to do because it feels my overall health is progressively getting worse, still without knowing the root cause. A cousin already offered to drive / accompany me 🙂 to the university hospital in Belgium if I should be invited for a consult.

As for my functional bowel problems with daily recurrent partial obstipation and pain/nausea (in the right lower abdomen) and overflow diarrhea, currently taking 5mg bisacodyl, 4 times a day.

[Meleber]

Luckily for me the physicians at the university hospital in Leuven, Belgium, don't immediately say, also because of my age, that a milder form of cystic fybrosis (CF) couldn't be the root cause of all my health problems. In first instance they asked me to send them all my medical files for further analysis. So this morning I started requesting them from my GP and two hospitals. So fingers crossed, again.

[Meleber in reply to Meleber]

Update:

Fortunately, and maybe (almost sure) because I mentioned that the university hospital in Leuven (Belgium) would like to investigate my case, I now will be invited for a consult / genetic test for the cystic fibrosis (CFTR) gene mutation by the University hospital that, in first instance, did reject my request (the referral by my GP) . A mutation of the CFTR protein could be the root cause of all my health problems / comorbidities including my chronic gastrointestinal health issues.

This is what I (also) seem to suffer from "What Is Distal Intestinal Obstructive Syndrome (DIOS)?" cystic-fibrosis.com/clinica...

[Meleber in reply to Meleber]

My appointment with a consultant has been confirmed by the university hospital.

[Meleber]

Scientific article "The Cystic Fibrosis Intestine" m.perspectivesinmedicine.cs... and cited by ncbi.nlm.nih.gov/pmc/articl...

[Meleber in reply to Meleber]

Research article "Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions" pnas.org/doi/10.1073/pnas.1...

[Meleber]

Had a consult with a rheumatologist yesterday afternoon. He mentioned sarcoidosis as a possible underlying disease for all my system wide symptoms. Since I will see a CF specialised consultant this Thursday too, we will wait for her diagnosis. If negative for CF he's willing to do some further examinations.

[Meleber in reply to Meleber]

In first instance the consultant is not convinced that it could be a problem with the CFTR protein, that a mild form of CF / atypical cystic fibrosis could be the underlying cause of all my symptoms. Although she did more or less suggest in the e-mail correspondence that she would have my blood tested for a genetic problem now she seemed more reluctant. I did have a lung function test and an x-ray of my lungs. Also my feaces will be tested for fat maldigestion, elastase, to see if there is a (functional) problem with the pancreas. Maybe a blood test will be done later. If not I always can ask the university hospital in Leuven, Belgium, for a second opinion. To be continued.

[Meleber in reply to Meleber]

Just got a call from the consultant. After discussion of my case in the team of doctors they decided that my blood (DNA) should be examined after all because based on only my symptoms they cannot exclude the possibility of (atypical / nonclassic) mucoviscidosis (cystic fibrosis) as underlying disease for my functional bowel problems and many other chronic health problems / all over the body symptoms.

[Meleber in reply to Meleber]

Blood was drawn for testing yesterday afternoon. Hopefully by the end of next month (August) the result will be available. If positive than at least I know what's been causing all my health problems since my early childhood, including the functional bowl problems. If not than at least I know for sure that it isn't atypical/nonclassic CF. Just a matter of exclusion of the most probable underlying diseases causing havoc to my health.

[Meleber]

Good news and bad news. DNA test for CF was negative, that's the good news. But still have all these all over the body symptoms, including the functional bowel problems, and that's the bad news. Have contacted the rheumatologist again. When I did see him early July he told me that he would like to investigate other possible options for my symptoms if the DNA test for CF was negative. To be continued.

[Meleber]

No more updates from me in this topic. At the moment waiting for my next appointment (17th of January 2023) with a consultant to discuss chronic bacterial overgrowth / dysbiosis and if so, how to treat it. An option is a cyclic course of an antibiotic like amoxicillin clavulanic acid, for the rest of my life since the bacterial overgrowth and all its effects seems to return again and again after a systemic antibiotic no longer does its work in my body/intestines. The idea is that the antibiotic helps getting my gut microbiome in a better balance, less disbalanced, and as a result my all over the body symptoms also will somewhat ameliorate resulting in a better quality of life (QOL).