Dear AMN community,
first I want to thank the people contributing here, and helping each other coping with this difficult disease.
At the end of my post, I tried to condense the most important issue into one short paragraph.
I from Austria. For me, this is a third world country when it comes to health care quality, because of the medical errors and mistreatments I‘ve received. That‘s why I’m searching for help on the Internet.
I posted it here, because I thought it is more likely that people with this special combination of hormonal issues (Addison’s, Hypogonadism and maybe delayed puberty) are possibly reading this, and might know or have heard of anything.
I (male, early thirties) suffer from Addison‘s Disease (Diagnosed (D): adolescence, the neurological issues progressed from there on; I‘m not considered to be „pure AMN“, because of the diagnosis in my pre-adolescent/adolescencent age; that‘s why they are writing on my records ALD/AMN, I guess) — I have extremely high ACTH levels (D: early twenties) above 3000 (measured, in 2017 at a University clinic, the usual clinics here can only measure up to 2000), about 40 times the maximum level, though taking 25 mg* Hydrocortisone daily, also my LH, FSH, Prolactin, Growth hormone levels are increased not as dramatically as the ACTH but they are significantly higher than they should be —, Hypogonadism (D: mid twenties, probably since teenager years), Osteoporosis (D: since Hypogonadism was diagnosed), Fatigue (starting at the time of shortness of breath), low Appetite (since chest pain and shortness of breath, can only eat a very small meal), burning Neuropathic Pain in my legs, Spasticity, basically housebound, if I wouldn’t get help from my family. Newly diagnosed: Tachycardia, (maybe from not getting enough air or the pain, got again no answer from the people that should know something ...), Borderline Hypertension.
I had delayed puberty and growth problems (probably a combination of a too high hydrocortisone dosage while growing up (Bloated face, rapid weight gain (I think, I was over the Cushing threshold), when I was started on hydrocortisone, reduced it since, low Testosterone levels (due to the VLCFA‘s, increased Cortisol levels and non-existent DHEA levels).
The worst problems
But the most hurtful symptoms (as the other stuff alone is not enough to bear) I‘m experiencing, since about over a year now, are labored breathing and chest discomfort — i guess, the right expression would be chest pain; it is so troublesome, because I have it around the clock, socializing with others is hard because I have low amount of „air left“ to talk (most healthy non-disabled people don‘t understand), and being in constant pain makes it hard to make friends and keep the old ones, which mostly disappeared after I was increasingly housebound.
I know my body, and this is definitely not something “normal“ or “imagined“.
I mostly lay in bed, sitting up or even walking with crutches is exhausting, and i get out of breath more quickly, i.e., around five minutes, and the chest starts to hurt stronger. Talking is uncomfortable and causes more pain in my chest.
Chest pain and Shortness of breath (Beginning)
It started few months (only while physically exercising) after I had a simple, at least I thought so, open appendectomy, I was on Testosterone Replacement Therapy at that time for a year, I think. I don‘t know, if it has anything to do with the surgery, later it turned out I had an incisional hernia, I was not informed at the hospital, where I got the appendectomy. They told me everything went normal during the surgery.
I still have a swollen feeling and hurting appendix scar (I wish I had known of the minimal invasive surgery. I was not told that this option was better, so I just asked the surgeon, what she would get — an open appendectomy she told me, I wonder if she lied, now I have around 10 cm scar, that could have been prevented). Compared to the chest pain the appendix problems are minor. Few months after the surgery, I noticed for the first time, that when i physically exercised I experienced trouble with breathing and Regurgitation (air) as if my stomach was squeezed by something.
After a few months things started to get more severe, I experienced shortness of breath and chest discomfort at rest, especially while talking, that was a big tipping point in my life.
It discomforts/ hurts me to talk, because I feel I have little air left in my lungs, i don‘t know, if my diaphragm is/was (on TRT) pressing on my lungs; fluid retention (recently had an MRI, that didn‘t show fluid retention at present) ? There is always a restriction, like a band around my chest and it feels like there is a heavy weight placed on around my sternum, especially at the lower part of the sternum. I feel it more pronounced when I try to breath in or talk. There is no room left to breath in, my lungs feel always full.
I‘m taking Hydro- and Fludrocortisone (in the US, i guess, it is called Cortef and Florinef), 25 mg* (Hydrocortisone dosage varied so many times, next year I could be again on 15 mg, because of an advice of another endocrinologist, so I just write the initial dosage) and 0.1mg and an extended opioid to relieve my pain, it doesn‘t help with breathing though. Opioids are the only pain medication that helps me with the chest pain! Calcium and Vitamin D for Osteoporosis; the Osteoporosis could have been prevented, if some clinicial pediatrician had cared.
I took TCA‘s, SSRI‘s and Anticonvulsants for neurological pain, chest pain and pain breathing with minimal (legs) to no (chest pain and breathing) benefit, but a lot of side effects.
Testosterone affected my Shortness of breath and Chest Pain
I‘m unable to find an answer to this, is, the breathing trouble and the chest pain are somehow related to my hormones, especially the Testosterone Replacement Therapy (TRT).
I had to stop the replacement, therefore the mentioned sexual dysfunctions kept coming back. But the pain, even though at first got slightly better, it didn‘t go way after I had stopped replacement therapy for over a year now.
Every time (started after the bowel surgery), when I applied the testosterone gel, the breathing got worse, but somewhat got better after 7-9 hours after I applied the gel, when the effects of the gel wore slightly off.
Therefore I completely stopped Testosterone Replacement and my breathing seemed to get a little better, at least at first. Trying to restart the T replacement made it worse (I tried getting on it again because of low energy and other bad stuff, but the chest pain and difficulty breathing even outweighs everything that comes with Hypogonadism.) So it has definitely to do something with my hormones/androgens or even corticosteroids, that might have done something to my heart or vessels, that contributed to the trouble I‘m in.
Other potential causes
Maybe it has or better had something to do with water retention (maybe damaged something, when I was on TRT, my thyroid levels (high TSH and T3, returned to normal later; first high T3 then on another appointment high TSH and T3) were slightly off on three different blood tests, but returned to normal (I hope, they didn’t fake anything, I worry about this because I know Austria — an Austrian hospital faked patients records, because of a supposedly invented new urinary incontinence treatment from Austria, that was published in the Lancet, but shortly afterwards removed; they found out about this dubious behavior, also the Nature (Medicine ?) Journal/Magazin reported on this issue (https://www.nature.com/articles/477384a) and a lot of Austrian newspapers; there are also a lot of cases, where patient records were faked because of medical errors, but they hardly make it in the news (not speaking of international news), only the severe cases)): The Corticosteroids and Testosterone cause increase in water retention (that is at least what the drug interaction tool from drugs[.]com says) and that would cause strains on the heart and vessels.
I have Osteoporosis and Hypogonadism, which was the reason I got on testosterone. I have read that cardiopulmonary symptoms are not uncommon in people with multiple hormonal dysfunctions and patients with delayed puberty.
I tried to restart taking testosterone at the lowest dosage, but always after about 2-4 days in treatment, the breathing and pain gets so much worse, I could not bear continuing it.
Most likely caused by hormonal issues (affecting heart, vessels, ..)
I have never heard of anyone with AMN and these kind of symptoms, which makes me believe that it is more of a hormonal issue: Addison’s Disease and Hypogonadism in conjunction and then later occurring Osteoporosis, which I think is unusual for a male in his early twenties. And my constantly, extreme high ACTH values, abnormal Prolactin, LH and GH values. The medical maltreatment — delayed puberty, not recognizing, that I was deficient of testosterone, while I was growing up or not informing me for whatever reason — we should have switched the hospital, but we were so confused about everything and I was pre-adolescent at that time, so I didn‘t know much, and now figuring out everything on my own is impossible.
Medical test history
I had an ECG and ultrasound of my heart, a CT scan of chest and abdomen; except Splenomegaly, spleen lesions, hypodens area and to a small extend fatty parts of my liver — everything not pathologically, I was told, (I‘m not sure, if I translated everything right). And an incisional hernia from my appendectomy that was diagnosed via ultrasound.
I had a respiratory test, where I was told I couldn‘t expel all the air (I don‘t remember the value, something like RV (?)), which would confirm my feeling of having full lungs and difficulty breathing, but they might have not known how this could be treated, since I left with being told, „ but everything else we tested is ok ...“, which was very frustrating for me, but they didn’t care, they just let me suffer.
English is not my native language, I hope, everything is somewhat understandable.
Questions and asking for forwarding my issues
Does anyone know what could cause these problems, I don‘t even know where to turn to. Does anyone know a doctor specialized in this kind of field and could ask or forward it to an organisation or self-help group. Maybe some specific tests that could help identifying what is wrong with me.
Or point me to a doctor or hospital I could ask and get an helpful answer, it would help me tremendously.
I suffer from chronic shortness of breath and chest pain at rest all the time for over a year (that is/was worsened by testosterone therapy, after a bowel surgery, that led to an incisional hernia, which I don‘t know, if the surgery has anything to do with it; it started few months after the surgery, but at first only when I physically exercised; Sorry, for this confusing explanation). No one really cares to help me where I live.
The health care I got in the western part of Austria is and was bad for me. Doctors made medical errors and treated me wrongly on several occasions, didn‘t excuse themselves and now just leave me on my own with this. The hormonal medical mistreatments are probably the root cause for this problems I have now. They won’t even hospitalize me for few days to run several tests to at least have done something — I mean, I have ALD/AMN (confirmed by genetical test), how could they be so cold and ignorant — I treated every doctor, even after the medical errors (which I have proof of), with great respect, but lately got increasingly inpatient when being confronted with this ignorant carelessness. The good thing with living in Austria, is, that I won‘t have to travel far to Dignitas in Switzerland, when I can‘t stand all of this anymore.
The only help I could get, is probably from a specialized hospital or medical professionals in a foreign country, which is „demanding“, because of my mobility issues and making my family pay for everything (they are not really happy with that, because they are also poor, if I wasn‘t unable to work I could handle everything on my own) and only doing certain tests at a time, which delays a proper diagnosis, especially if I have to visit different doctors. I‘m afraid, that I have to live with this the rest of my life, which is a dire outlook and not long bearable.
Should I somewhere upload my lab results (blood work, CT, ECG, Heart Ultrasound, Body Plethysmography), if anyone wants to look at it? Sorry, that I‘m writing this months after posting this, maybe no one is looking at it anymore.
Thanks for your help