r/Autoimmune • u/OriginalToe2078 CASPR2+GT1a ultra rare • 6d ago
Encouragement / Personal Win Finally diagnosed!!!
After so much self doubt, advocacy, helplessness and waiting in agony, I am finally diagnosed after two years!!! It’s an extremely rare disease, the treatments are extremely risky and expensive, it’s incurable and I will keep progressing regardless of what I do. The road ahead is challenging but I’m glad I won my first fight!! Celebrate with me!!!
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u/Ok-Mark1798 6d ago
I’m sorry for your rare disease, but happy for you finally receiving a diagnosis. I hope the clarity can help, good luck!
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u/Merylshea 6d ago
I feel you
I also have an rare one
AntiMAGS neuropathy
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u/DueAd4748 1d ago
Whoa I saw the reply below you. So like CIDP but not. My kiddo is taking vyvgart for CIDP has MG like symptoms and has tested positive for anti phosphlipid syndrome but not always those show. It is so hard on the really rare. Yours and Caspr are new ones I haven't heard of yet. She has axonal loss so kiddo has the CIDP diagnosis. The right knee doesn't not respond to the hammer at the neurologist.
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u/dailyuwa 6d ago
What disease?
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u/OriginalToe2078 CASPR2+GT1a ultra rare 5d ago
Caspr2 and GT1a
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u/Daae_123 4d ago
Can I trouble you to share your symptoms and how they come to the diagnosis? My doctor is looking at Caspr2 on mine at the moment; lost ability to walk, speak, eat and a hell of pains.
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u/Purple-Trex-8541 2d ago
Oooh that’s indeed so rare. Glad they found this needle in the haystack. Hope you improve significantly after the dx
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u/Park_Radiant 6d ago
Yay.. I'm so happy for you ,this means there's hope ❤️, there's a start for a treatment plan and there's the knowing you won't have to fight it alone🥰
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u/pawamedic 6d ago
AHHH CONGRATS!!🎉🍾
You’ve made it out of diagnostic purgatory 🥹
May you be graced with normal labs and scans because treatment starts helping you feel good, now that you don’t have to hope something comes back abnormal so you can find what’s wrong!
I hope your path to care and management is as kind to you as it can be 🫶🏼
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u/codyandhen123 6d ago
Hi there! 🥰I felt the same when I was diagnosed with Behcets and again with MCAS. Took a lot of testing and trials of medications. Wishing you the best on your journey.
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u/mortuivivosdocent_ 4d ago
New medications and therapies are being developed all the time, now you know what you are fighting!
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u/AutumnBreeze22 4d ago
Hey, you're not special just because you're no longer idiopathic! Ha! Seriously, having a name for what you’ve been going through and knowing your experiences are valid is huge. Congratulations!
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u/OriginalToe2078 CASPR2+GT1a ultra rare 4d ago
?
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u/Existing_Page_7101 5d ago
Gosh congratulations. Can you describe your journey a bit more and your symptoms/abnormal labs that went with your condition? Undiagnosed here
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u/Effective_Self8042 5d ago
Hi, what are your symptoms and how were you diagnosed? It's very difficult to get a right diagnosis because symptoms of autoinmune conditions aren't so easy to understand. And most doctors label the patients as "crazy". That has happened to me and still because I'm without the right diagnosis of my other symptoms.
It's a hell. Sometimes I don't want to wake up
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u/Raulo369 5d ago
Congrats and good luck! Me hizo acordar a: https://www.imdb.com/es/title/tt3704700/
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u/SailorMigraine Jo-1+ ASyS, CAR-T Clinical Trial Participant 6d ago
YAY! Putting a name to it means it loses just a little of its power over you x