8 posts shown.
It’s possible, though my doctor just casually brought up genetic autoimmune conditions, which includes VEDS—though I don't show many obvious symptoms there. Then there's Marfan; my grandfather was abnormally tall, and while he didn't have scoliosis, his whole build was textbook. He eventually passed away later in life from stomach cancer, which wasn't even linked to Marfan, just years of heavy drinking out in the rural areas. He did beat Hodgkin, though. Look at Michael Phelps—he has Marfan, yet with regular heart monitoring, he conquered swimming; those long arms actually gave him an edge. Ironic, right? I meet certain criteria for Marfan, and luckily I know surgeons who can handle the necessary procedures, but some of my physical traits come from sucking my thumb too much as a kid, resulting in a high palate. I'm also not sure if my mild scoliosis is from that or just a massive growth spurt in a short window. Then there's the third one, which was only discovered in 2005: Loeys–Dietz syndrome. Now comes the fun part: hunting for a specialist to run screenings and refer me for genetic testing if I qualify under the insurance guidelines. For middle-class Americans, that cost is basically a pipe dream. It’s a brutal disease; it goes straight for the aorta and other arteries, causing aneurysms and all that stress. I spent 17 years being hyperactive with long-distance running, so now I stick to cycling maybe 5 or 6 days a week. Constant training puts stress on the heart, and I've developed what you'd call "athlete's heart," so most of my parameters are hovering near the upper limits. My annulus, ST junction, ascending and descending aorta all have room to grow and are currently normal, but my aortic root is at 3.5, which is already pushing the upper limit of normal. Again, my heart adapted over time; my EF is over 70%, TAPSE and the right side are working smoothly, and there are no issues with valve regurgitation. My aortic valve is tricuspid and the issue is trivial—hardly visible without ultrasound and it doesn't affect valve function, and thicknesses look good. My blood pressure is textbook, so cardiologists didn't give me any restrictions back then, but we'll see what happens once the full picture emerges.
It’s all pretty delicate. These rare autoimmune connective tissue diseases are a mess—some are hereditary, some are inflammatory, and if I saw correctly, there are about 300 of them. This last one can even mutate in offspring even if the parents showed nothing. Most people only find out they have it during some other screening when a doctor says, "Hey, your aorta is nearly 5 cm... let's get moving." There are a lot of similarities with scleroderma symptoms, which can be a deciding factor. Specialists doing the screening really need to weigh where to send a patient for specific genetic testing. I highly doubt Medicare is going to pick up the tab for 5 or 6 tests, which could easily hit $50k. The worst part is that affected aortas tend to be prone to dissection much earlier than aortas enlarged due to other causes. But what can you do? If you're fighting genetics, it’s like trying to fight a math equation from college—you just can't. You just hope you react in time; the primary goal is to fix the immediate issue and then monitor everything else. I'll post updates here once I get my tests done, just in case anyone else finds themselves facing similar symptoms or wondering what steps to take next. On top of all this, my rheumatologist banned me from taking Pregabalin, so now I'm stuck relying on Gestalt therapy just to cope with it all.
Nicholas Myers said:Sir,
I've read through your entire post, but I'm struggling to understand what specifically leads you to suspect systemic sclerosis or Cushing? What exact symptoms are you experiencing? Given the lab results you provided, a diagnosis of systemic sclerosis would be highly unusual.
I have prominent telangiectasia symmetrically across my abdomen just below the ribs—small, long lines rather than dots—plus some on my bridge and inside my nose, and in my mouth on the soft palate and throat near the lymphatic tissue. My latest scans show slight degenerative changes in both knees (maybe from 17 years of running with bad form, maybe illness, who knows). My mouth isn't dry, except when I first wake up because I breathe through my mouth due to a deviated septum. My eyes aren't dry either; I see some capillaries, but there's no irritation, pain, or itching. My nails have pronounced vertical lines and some pitting. Cuticles look fine. Capillaroscopy wasn't performed. Then there’s this subjective feeling that I've lost significant subcutaneous fat in my lower legs and some muscle mass in my arms and legs. It feels like my tendons have lost flexibility. I mentioned one wrist moves out of alignment—it doesn't pop, but it drifts during pronation and supination. I also have stretch marks on my thighs and hips, which could be from my weight swinging from 207 lbs down to 138, then back up to 180, or it could be a collagen issue. Add in genetic connective tissue disorders like Marfan and Ehlers-Danlos... and then there are the organ symptoms. Frequent urination; kidney labs look okay, but my 24-hour collection was 0.09, which the doctor brushed off, but it worries me—logic suggests if kidneys are working right, that number shouldn't be there. Then there's the digestive issues and gas, plus my gut sounds are so loud you can hear them from across the room, though it's not constant. Finally, muscle fasciculations in my legs, arms, and chest—sometimes making me think it's my heart—happen less frequently now, but they still flare up for weeks at a time.
My bad, I wanted to lay everything out on the table. I know there’s a specialist over on the lupus thread who breaks down lab results, so I figured I’d list everything I’ve done here so maybe someone can offer some advice without me clogging up that other section. I get it—this whole thing reads like a novel. Honestly, I’m terrified because when you're dealing with the systemic version of this disease, it’s pretty brutal. Even today, I went to see a department head privately just to get a second opinion, but since my blood work looks perfect, she refuses to give me a diagnosis. She’s acting like it can’t possibly be an autoimmune issue just because my numbers are clean. My CRP is 0.2, ESR is 2, RF is low and hasn't budged from the last test, and my CBC has been steady for years—everything is totally normal. My ANA came back negative at the Chicago University Hospital Center, and they don't run ENA tests there if the ANA is negative, which makes sense from a cost-cutting standpoint. I decided to pay for the extra ENA parameters myself at Medikol, and they were all negative, including Scl-70. Still, I know there are rare cases where the ANA is negative but an ENA comes back positive. It's rare, but it happens. In my line of work with animals, I've seen lupus and Cushing's, but experiencing it in a human is a whole different ballgame. This disease manifests in so many weird ways; if your blood work is normal or you don't have the classic symptoms of advanced stages, people tend to miss it, even when you're actually feeling the symptoms.
I know this thread is old and pretty dead—which is probably for the best since there aren't many patients around—but I’ve got a question. I’m struggling with all these different tests, and everyone looks at me like I’m some guy who got diagnosed with insomnia after staying up for a week straight. They immediately jump to fixing that first, acting like everything is just "all in my head." The truth is, I picked up anxiety after a heart arrhythmia triggered by sudden, intense workouts. I wasn't paying attention to how hard I was pushing, and I genuinely thought I was going to drop dead right then and there. Once you go through that, you're branded with fear, and that's where the spiral started. A systemic disease like scleroderma has such messy, non-specific symptoms. Most doctors rarely, if ever, see cases like this, so I have to be the one to point out the connections. Even the tech doing my ultrasound told me that, nearing retirement, he'd only seen maybe two cases in his entire life—one back in college and one during his career. It’s a tiny trickle of a river. That makes things incredibly difficult with the diagnosis and the patients; when the prognosis is this grim, people don't exactly want to face it head-on.
So, my journey starts now. It’s pretty obvious my rheumatologist doesn't have much to go on. I saw the local specialist in town, and honestly, the exam was mediocre at best. She basically filled out half the chart claiming I denied certain symptoms—like photosensitivity—but she didn't even ask me about it. She didn't mention dry eyes or mouth either. She did check my heels, my toes, my grip strength, body build, hairiness, muscle definition, and so on. She ordered an abdominal ultrasound, which came back totally clear. On my own initiative, I went to a private clinic for a kidney ultrasound; blood pressure and structures look normal, no signs of sclerotic changes. I'm still planning on a kidney biopsy just to be absolutely sure we see the full picture. Blood work for kidney function—urea and creatinine—is top-tier, clearance is fine, though there's a tiny bit of protein leakage. Nothing drastic, but I was training hard that day and under a lot of stress from everything going on. My nephrologist gave me a once-over and said there’s nothing to do right now; he just wants to monitor things later. I also had pulmonary function tests done—vital capacity and two others I can't recall—and my lung volume is actually higher than average. No obstruction. Just to be one hundred percent certain, I’m heading in for a lung parenchyma scintigraphy to rule everything out.
I’ve gone through a massive battery of cardiac tests—probably saw about eight different cardiologists at this point. I was convinced my vascular issues were the culprit, and I just wanted to be absolutely certain I could get back to training without any surprises. I did two separate stress tests, both came back easy. I also wore a Holter monitor; my resting heart rate while sleeping stayed between 42 and 48, while during the day it hovered around 56 regardless of what I was doing. No pathological rhythm issues popped up. The only thing was that my numbers during sleep were significantly better than during the day—it feels like overtraining or anxiety might be playing a role. There's definitely something there. I also went in for a cardiac MRI. No amyloidosis, no fibrosis, no scarring. Everything looks perfect according to the diagnosis of athlete's heart.
I noticed my neck veins were bulging slightly, so I immediately jumped to the conclusion that it was hypertension. Turns out, the cardiologists aren't buying it—they say everything looks fine and there’s no reason to push for more aggressive testing right now. Meanwhile, the veins in my legs look like a total mess from all the running and hiking; they're just sitting there, prominent as ever.
I don't have any skin thickening on my body, just on my little toes—which they got from... 622 miles My skin feels like sandpaper, and I’ve got blood under my fingernails. There are these deep creases around my toe joints that just show up out of nowhere. But what really bugs me is seeing these tiny veins on my fingers—they aren't typical spider veins, just thin little lines. I also have telangiectasia right at the base of my nostrils, plus some faint veins on my eyelids that you can only spot if you're looking closely under direct light. Digestion seems fine. Aside from some gas, there’s nothing else; I even had my calprotectin checked and the results were okay. No diarrhea, no constipation, no bloating. My stomach processes food at a normal rate, and my esophagus feels fine too. One thing, though—part of the gum line on my lower jaw looks like it’s receding slightly, but my dentist insists there’s no actual recession (and hey, I’m no expert). I’m also seeing more gray hairs lately, probably just a mix of genetics and stress. The whole situation is just exhausting because you never know which symptoms actually link back to a systemic disease and which ones are just side effects of cortisol spikes from being a total hypochondriac.
I ran an ANA panel—everything came back negative. I went ahead and ordered the ENA on my own too, just because I know there are those rare cases where the ANA is negative but specific antibodies still pop up positive. Turns out, that was also negative. Nothing for Lupus, Sjögren’s, RNA polymerase, any of the three types of scleroderma, dermatomyositis, or anything else. All clear. Checked my complement levels, and they’re all within the normal range. RF and anti-CCP were both negative. Did immunofluorescence for immunoglobulin, and everything looks standard; the patterns are totally dull, sitting right in the middle of the reference range with zero reactivity. To cover all bases regarding potential symptoms, I also checked my creatine kinase, LDH, testosterone, prolactin, some intestinal markers, and H. pylori. After spending way too much time spiraling through medical forums online, I thought I had diagnosed myself instantly, but obviously, I need a specialist to actually sign off on this. Does anyone know a good specialist or a scleroderma rare disease association? I want to talk to someone who actually deals with this stuff regularly, even if it isn't exactly common.
I’ve looked through other opinions online, but honestly, most of them don't sit right with me—not based on the ratings or the comments either. I feel like people just want to dismiss everything as anxiety, even when the physical symptoms are staring them in the face. This constant lack of energy, the veins popping all over my body... it’s real. My first doctor didn't even bother checking my nailfolds for changes, let alone looking at my veins or skin. It was a pretty useless exam, and I need something much more thorough. I'm heading to an endocrinologist next to see what they find, but my gut tells me this is autoimmune. Time is ticking while I'm still stuck without a formal diagnosis, and since treatment isn't one-size-fits-all and varies wildly from person to person, I can't afford to wait. So, if anyone knows a solid immunologist or rheumatologist who actually specializes in this and has years of experience, please let me know here or shoot me a DM. Price isn't the main issue; I just need to find a true expert who will perform a comprehensive workup. Thanks a lot.
After thinking it over, I’m looking to get my account suspended for a year. Just need to cool off from this forum for a bit. Thanks much 🙂.
I’m asking you guys to please give me a permanent partial ban from this subforum. Honestly, it would save me the trouble of even thinking about posting ads or anything else in the future. This way, I can finally just have some peace and quiet. 🙂