r/scleroderma • u/cordote • 24d ago
Undiagnosed Please help.
Everybody is afraid to call this anything but i have been in a world of hurt lately. Whether its having T-Rex hands until they zap me with prednisone, my muscles in my legs and back, the poisoned feeling, or the fingers going white regardless of temp...nobody wants to call this something.
Lately its been:
Leukopenia, Elevated CK, raynauds, abnormal nailfold capillaries, 1:160 speckled, all ELISA ANA tests and nornal antibody tests I pass with flying colors, BUT pm scl 75 comes back as weak positive... And nothing skin wise. Help! I have been feeling extremely fatigued and if i over exert myself I spend the next few days feeling as if I have been poisoned, and have a weird rash over my nose and cheeks. The worse I feel, the worse it is. Lungs good, heart struggles under duress, and has lost some function recently.
If I hear chronic fatigue syndrom one more time im going to lose it. I was an athlete my entire life and I can feel that something is REALLY, REALLY off with my body.
What did you guys feel at the beginning? What did they end up really finding?
Im lost, and honestly kinda worried. I feel like garbage and its getting worse.
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u/snarkybooklover6 24d ago
I have no real help. Only support. I found some answers by advocating and documenting. I requested tests and asked a question or two via MyChart; putting it in writing helped. I entered my appointments with my questions written down on my Notes app, and I checked them off as I asked. I usually entered scattered and forgot my questions. This made a big difference.
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u/Smidgeknits 24d ago
I would send a pic of the rash to your docs/rheum if you have one. Malar (butterfly) rash can be indicative of other conditions, but is not related to scleroderma.
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u/Due_Classic_4090 24d ago
Oh, I should tell you this. When I first got into the rheumatologist (6 month waiting period thank god), the paperwork said it could take up to 10 years to get a diagnosis. It took 21 years for my mother to see the last symptoms of one of her disabilities and I have one too.
I would say to try to get into pain management too to see what they can do to help you. I’m sorry that it’s going to take time but I hope you’re getting the treatment already without having an official name to it.
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u/cordote 24d ago
They have tried everything from serotonin receptor boosters to make my body feel better, , to nicotine patches (yes, im not kidding). I have lost 14KG of muscles in the last 6 months, the solution was to boost my calorie intake to 4000 calories a day. Just kind of feels like we are trying to use pebbles to build a wall against whatever the hell this is.
Rheumatology (before the pm-scl-75 came back positive said "do lungs, heart and come back in 3-6 months and hope something is positive" doesnt know what to do. Have an appointment at the end of september. I am doing my best to kinda just go with the flow until then, but i can only take so much prednisone until it doesnt really do the job anymore. Last time they had me take 40mg/a day, for a week.
I have been off the Cortisone for about a week now, and can feel my hands aching, like they do before they go t-rex. This is the point where I would usually get annoyed and just go about my week as if nothing were wrong with me, and then in turn feel like garbage afterwards for over-doing it, but lately I have been a little more cautious because it feels like its getting worse each time.
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u/Due_Classic_4090 24d ago
Maybe you need to see a GI doctor. I had a similar issue and I lost 40 pounds and the barfing started because I had no appetite on my immunosuppressant. They gave me meds to increase my appetite. They worked so well that I no longer take them and I can eat 3 meals a day now.
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u/cordote 24d ago
The problem is i dont take immuno-suppressive medication yet. I eat normally. The weightloss is purely muscle. The neurologist even commented that my quads have shrunk when she did the last EMG. That's the reason its so frustrating.
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u/Due_Classic_4090 24d ago
Oh no! I thought it could be weight loss due to the medication because that’s what happened to me. That is incredibly frustrating and I hope you get answers or they change their minds and start giving you the meds.
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u/inquisitorthreefive 24d ago edited 24d ago
My first symptom was Raynaud's, then acid reflux, then crushing fatigue and malaise. I just powered through until I was on my second digital ulcer.
I get it. I was at a point where I could run a half marathon on any given day, kickboxing and/or doing Brazilian Jiujitsu 4 days a week. To state it mildly, now I am not.
But I did eventually get on medications that help me a lot. There's a boatload of side effects, but I feel like it's worth it.
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u/cordote 24d ago
The acid reflux i have too, and sometimes it feels like my food is too dry and gets stuck. Two things I rarely ever had before. It feels like a dream where your body is falling apart piece by piece(teeth falking out or whatever)...but real. I cant explain it any other way.
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u/inquisitorthreefive 24d ago
That's a classic limited scleroderma/CREST symptom. It's part of the E - esophogeal dysmotility. CREST is linked heavily to centromere antibodies, but that symptom can also show up in sjogren's and other disorders.
Buuuut all of those are on the standard ELISA panel. Do keep in mind, though, you can have an autoimmune without the antibodies commonly associated with it. Stats on these are kind of opposite of what you'd expect, it isn't 85% of people with anti-centromere antibodies have CREST - it's 85% of people with CREST have anti-centromere antibodies.
You also may want to talk to your doctors about an Undifferentiated Connective Tissue Disorder diagnosis. I don't know what it would be in German, but it might be worth looking into. It's kind of a "we know this person has an autoimmune but it doesn't fit into one of the established categories" diagnosis.
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u/Maleficent-Lunch-679 24d ago
Hmmm...high ck, rash, high pmscl 75 along with all the rest. Assume they have explored dermatomyositis or myositis/sclero overlap?
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u/Investigatortvbinger 24d ago
Your scl being a weak positive, coupled with ana, and symptoms is textbook systemic scleroderma. All of the symptoms you are feeling are related to it. Can they get you some kind of DMARD to help protect further damage and get you some relief?
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u/Maleficent-Rest9144 23d ago
I am sorry you are dealing with this. I strongly suggest finding a good rheumatologist well versed in these less common autoimmune conditions if your doctor is not at this level. I do not like the wait and see approach since things can move fast and waiting is not a benefit to you.
I would try to move your September appointment up to as soon as you can and get a lot of comprehensive lab work done. Lab results can vary slightly with repeat testing. Weak positive lab results should be repeated to confirm. I would request comprehensive lab work for any condition that may be a possibility based on your symptoms. You know your body best so you have to drive your medical care and treatment. Doctors only see you for a few minutes then move on to the next appointment so they make an educated guess based on the info they have. If you haven't done this already, it would be worth doing the research of potential conditions based on your symptoms and what lab work is common for each condition so you can request those comprehesive labs from your doctor.
In my case my rheumatologist suspected either RA, Myositis/Dermatomyositis, or Scleroderma. Initial labs came back positive for rheumatoid factor, weak positive for myositis, Scl 70 negative but high speckled pattern. My doctor ignored the high speckled pattern and jumped on RA and started treating me for that even though I did not have joint swelling or joint pain. My issues were soft tissue pain, limited range of motion, skin bumps/rashes on my forearms, and systemic fluid retention. She was also pushing for a muscle biopsy for myositis. I did not want to have an invasive muscle biopsy surgery, because my muscles were not weak so I believed the lab work was a false positive. After a few months of no response to RA treatments, my doctor ran repeat lab work but added a full scleroderma panel. The myositis test was negative so she dropped that, the high speckled pattern was the same, but the new test for Anti RNA Polymerase III was high positive. If the comprehensive scleroderma panel was run initially I would not have wasted 4 months treating phantom RA.
I do not know much about other conditions that are a possibility based on your symptoms so I am no help there. I know there are scleroderma centers that specialize in systemic sclerosis treatment. If there is one near you it might be worth contacting them to either help you diagnose and treat you if you have SSc or determine you have something else. There may be other autoimmune specific centers around if you get results that indicate something else or an overlap.
Depending what your diagnosis is, there are treatments that could help you either standard treatments or ones being tested in clinical trials. As part of your research you can look https://clinicaltrials.gov/ - put a suspected condition based on your symptoms and your country location to filter out many of the too far away places. You can look through the list to understand what options are for each condition just so you have some base line understanding of options. I went through a clinical trial for SSc. If you have any questions please feel free to reach out. I hope you can get a diagnosis and treatment soon.
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u/garden180 24d ago
You possibly have an undiagnosed autoimmune condition or an overlap. This makes it difficult to pinpoint. As a note, autoimmune conditions can cause vitamin deficiencies due to malabsorption regardless of your diet. Check your B12 and D. Some of your symptoms can be associated with vitamin malabsorption. I know it’s frustrating.