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Thread: Advice

  1. #1


    Let me start off with, I am not looking for diagnosis...just advice on how to proceed.

    Little about me. Growing up, I was always sick with ear infections and step throat or tonsillitis over and over. As the years passed, I was 12 I was having problems breathing when playing indoor soccer, but was fine outdoors. I got allergy tested and was allergic to almost everything so I was diagnosed with asthma and allergies. I continued the allergy shots and inhalers all the way through highschool. Junior/senior year I started getting a lot of chest infections, colds/flu/bronchitis/pneumonia. Was told this is expected since I have allergies and asthma. After HS, I started getting sicker, ear & sinus infections, strep or tonsillitis and bronchitis or pneumonia and intestinal infections...all of this at once. Again I was told this is due to my allergies and asthma. Fast forward a couple of years (25ish) I started pushing for answers, I am too young to be this sick and ill feeling all the time. I started to go to doctor after doctor, specialist after specialist. I finally was sent to a endocrinologist, finally got an answer (at least that was what I was hoping for). I had low testosterone (at 25 years old). So I thought this was the problem after all of these years, I started treatment for it. Even after treatment I was still get sick all the time (ear & sinus infections, strep or tonsillitis and bronchitis or pneumonia and intestinal infections) 6+ times a year or so. The company went out of business, lost my insurance and lost treatment for low T. I ended up moving to another state and got new insurance, so now I had to start the hunt all over again. Now at 33, I started going to a new dr and told him I was being treated for low T, so he ran the basic blood work for it and told me I wasn't (133 at 33 is still low) and now I also started having low glucose levels on a regular basis when blood work was done. So now with this new information and being sick with everything all the time (which was now 12+ times a year with everything listed above). I now had to argue with the dr that I needed antibiotics and steroids to be treated for something I know I am prone to getting. I couldn't tell you how many times I had to go back days later when I was deathly ill to get the antibiotics and steroids that I was refused the 1st visit days earlier. New symptoms started to appear, now I started getting nauseous and headaches all the time. So now off to new specialist for the headaches and nausea. After all their testing, they couldn't find anything and pretty much don't come back here as there is nothing wrong with you. So every couple of months (especially end of fall to the end of spring I was always sick with all the infections listed above). I started going to these dr in a box for antibiotics and steroids, since my primary pretty much washed his hands of me. Fast forward to my current age of 40, new job and new insurance. I decided to start this wild goose chase yet again. Remind you, at this point I have had multiple ct scans, xrays and gallons of blood work. I kept asking why am I so sick with the same stuff over and over, again no answer except for asthma and allergies. So my current primary sent me headache specialist, what a waste of time and thousands of dollars later, I decided to stop going. He then sent me again to another endocrinologist, this time for follow up with the glucose. I had issues with the implant that was designed to monitor my glucose 24/7, my body was trying to reject it and I couldn't stop bleeding from it. I went back to get it removed and the specialist upset I was there, which he personal told me to come and get it removed. Again I decided this isn't going to work out as he was telling me my glucose was fine. So the winter 2018/2019 I was on antibiotics at least 12 times for the same repeated infections, my primary decided to send to me a pulmonologist to see if there was something wrong with my lungs. The pulmonologist decided to test me for "alpha 1 antitrypsin deficiency". I asked him if he would check me for cystic fibrosis as well, he was reluctant but decided to anyway. Off I go for a sweat test. Finally got the results back after several weeks of intermediate (44), I was told I had to go and do it again because they must of messed up. So off I go again for another sweat test...want to take a guess to the results of the 2nd sweat got it intermediate again. So now I had to do a genetics test which came back with "heterozygous delta f508", but nothing else (being told this was the full gene testing). So now off I go to an accredited CF specialist. There I did another gene testing for duplication/deletions, which came back normal. Slightly elevated liver, pancreas and low glucose. Now they want a stool sample, I kind of laughed at them, that one will be difficult as I am luck to go 4-6 a month, and 99% of the time its while at work and not collecting a sample there. But they didn't listen and still put in a request for it. So a couple of months went by and they asked again about it, my response is I haven't been able to go since my last visit, and if I did very little and I was at work and my stomach was starting to hurt. I had to go to the clinic for an exam and xrays, came back with some blockage in the right side and he made a comment if it hurts and I said yes, but I can tolerate the pain as I have been dealing with this now for around 10 years. I also mentioned I get a slight bulge from time to time near the right front pelvis. He responded well that odd, because people with "cystic fibrosis related disorder" don't get that what you are describing, just people who have true cystic fibrosis and you don't have it. Now I have to see a GI specialist...and currently waiting for an appointment. The way this came across to me is they already have it in their heads I don't have so that rules out anything related to CF or don't want to acknowledge the facts before them so let's just send you off to another specialist so they don't have to deal with it.

    So what exactly is "cystic fibrosis related disorder", the way I understand it is, one has almost all the symptoms, but because you sweat test isn't positive means one can't have it.

    So at this point, I am getting tired of seeing useless dr and no real answer and tired of spending thousands and thousands of dollars and still no closer to an answer then when I started 20 years ago. I just need some advice and what I should do next.

    I want to thank anyone who reads this in an advance.

  2. #2
    Really no one?

  3. #3
    I really don't know what to tell you. I think it's possible you're a carrier of CF and carriers can have symptoms of CF. CF requires either two heterozygous or homozygous mutations. There have been some CFers who have had negative sweat tests but were still diagnosed with it through genetic testing. Curious as to what your lung function was during the time of your testing and what accredited CF Center you went to. Your GI symptoms can cause lung issues as well. Sadly, I'd recommend more testing and possibly repeat sweat test as CF symptoms can develop over time in rare cases.

  4. #4
    Thank you kenna2, for responding to my post. As for my lung function test, I was never told what they were (any of the 3 test). I just started going to University of Michigan CF center in Ann Arbor MI. I've only gone there for 2 visits so far, the 1st one was a meet and greet and the 2nd one was because of the bloating and constipation (I did a 3rd sweat test during this visit and was intermediate again). I've been dealing with this now for close to 20 years and every year I am getting sicker and sicker. I am at the point from being on antibiotics for so long and so often, the only one that seams to work on me anymore is levaquin and antibiotics shot in the rear. What other testing are you referring to?

  5. #5
    I'd be curious to find out how many mutations they actually tested you for. A lot of times after a sweat test, they'll only test for the most common mutations -- 30 to 100 when there are over 1500, closer to 2000 mutations for cystic fibrosis. My child passed his sweat test as an infant with flying colors, but due to being born with a bowel obstruction -- meconium ileus, someone ordered a basic CF screening and he was found to have CF. I seem to recall a few people who cultured CF bugs, had at least one mutation and/or numerous CF symptoms and were able to find a doctor who treated them as if they had CF or were label as having CF related syndrome. I think some of those people were given a nasal differential test for a better determination...

    Have they ever run a sputum or throat culture to see if you culture common cystic fibrosis bugs such as pseudomonas, steno maltophilia, H. Flu, MRSA...? Have they determined if you're pancreatic insufficent, run a fecal fat test? I'm just throwing out ideas...
    Parent to a child wcf double delta f508.

    Started Orkambi July 2015
    Began Symdeko August 2018

  6. #6
    Funny you are asking that Ratatosk, as I just went to quest to get the exact test they were supposed to do. The Quest test code is 10917 and it states the test analyzes approximately 1000 variants, but when I actually called their genetics contact # I was told they only tested for 161 different mutations. So I am not sure which is correct at this point. As for the sputum culture, I was just finishing the 10 different antibiotics (levaquin seemed to be the one that worked, but I also has an antibiotic shot at the same time but not sure what) and 12 rounds of steroids when I was finally seen by the CF specialist. Which I also told them I just finished all of that medication since I was sick for almost 6 months (end of October 2018 - early March 2019) CF appointment was middle of March. They have asked for a stool sample, but I haven't been able to do that since I am not consistent in that department and usually at work when I got to go. Which actually lead me to the 2nd CF appointment (2 weeks ago) and was constipated had to drink a gallon of peg 3350-electrolytes. Not sure how well that worked as I never had the clear water type description at the end of it as I was told it would be. Also getting backed up again as my stomach pain is back, the bloating and the small bulge in the lower right abdomen has been coming back again the last couple of days. None of my Dr's have mentioned the nasal differential test as of yet, but then again they are not sure on what is wrong with me as of yet. Some of there reports show diagnosis of cystic fibrosis and others are showing cystic fibrosis related disorder.

    Thank you Ratatosk for your input as I have gotten a clear answer from any of the Dr's I have been seeing, other than go to this specialist and then got that one and so on.

  7. #7
    I am surprised that they did not send you to a GI specialist earlier after they heard you felt lucky to go 4-6 a month. How could you survive this? Once a week sounds so wrong. If you are truly "heterozygous delta f508", your condition might be explained by mutations in CFTR modifier genes, which is even harder to determine. I worked on a protein called TDP-43. When this protein is abnormally high, your cells will produce shorter/non-functional CFTR. You might be ok with one copy of CFTR gene, but if some cells/tissues/organs get high TDP-43, even less functional CFTR will be produced. It would be helpful if they can examine your affected tissue for this protein, but I am not sure if they can do it. Once they have your CFTR cDNA (contain protein coding sequence) in hands, they can get the whole coding sequence with less than 8 sequencing reactions (~$4/reaction). Genomic sequence of CFTR is so much longer, but should be easier these days when you can sequence your whole genome with $2000. The hard work really is to find the genes that give you the symptoms. If they are willing to do more sequencing on you, at least sequence the intron region right ahead of exon 9 (now called exon 10). That's where TDP-43 binds and leads to non-functional CFTR if you have longer TG repeats (more than 11).
    Last edited by findcure; 06-13-2019 at 10:46 PM.

  8. #8
    Quick update. Had the appointment with the GI specialist, scheduled for a colonoscopy and endoscopy. Did more blood work and have some kind of breath test scheduled end of July for overgrowth of bacteria. And again mentioned the bulge I was feeling that comes and goes, he said it sounds like dios but can't have that since I don't have cf, just cfrd. And have a small hernia near my bellybutton.

    Got my Fev1, which was at 74%. As for the # of mutations I was tested by quest and theirs was 1,000 and then I am not sure what all the duplication/deletions covered.

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