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 test...you 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.
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 test...you 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.