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Rare Diagnosis Experiences

How long did it take you to get diagnosed with your rare disease? Did you receive any misdiagnoses?

  1. It took me 38 years I think to get the correct diagnosis and I still don’t have any symptoms that are the same as the ones that other people have with this disease. (Jerking Stiff Person Syndrome with PERM) and I am now 48 in June 2024.

    1. Hi, again.

      I had just asked in a prior thread what your diagnosis is... I see now that you shared your diagnosis in this comment.

      38 years until diagnosed, and going on 48 now... wow. So, symptoms began at only age 10... that's a loooong journey for you.

      Did you receive any misdiagnoses along the way?

      Gina Miller Team Member

  2. it took nine months to be diagnosed with mollaret's meningitis (now known as recurrent meningitis) and chronic fatigue syndrome. that was really fast because this was 1986. a wonderful, caring medical resident found an obscure journal article on mollaret's meningitis, and chronic fatigue syndrome recognition was in its infancy and largely discounted by the medical community as a whole. i'm eternally grateful for the care i received from that resident and her supervising doctor. they were on a mission to help me, and weren't going to stop until i had a diagnosis.

    1. Wow! Sounds like you came across exactly the right people. We love hearing stories like this. Since your diagnosis all those years ago have you seen more research or treatments emerge for your condition? Warmly, Corene (team member)

    2. i wish there were treatments for my illnesses. the only real treatment is for my severe rheumatoid arthritis. that really has taken the lead position, although the meningitis pops up full force now and then. with all the meds i take for the symptoms of all the other illnesses, i can handle the meningitis without seeking medical care. i believe the many bouts of meningitis i've had over the past 39 years are responsible for the chronic headaches i get ... which makes me look longingly at my piles of unread books ... but it's so hard to tell where one thing ends and the other begins. however, it's who i am, and with all the hobbies i have, and with the five cats who are my constant companions, i live as full a life as possible. i'm content.

  3. Am 69 now, 2 years ago, got diagnosed with an MRI scan, TSC, and then LAM, but do not have the genetics. I also have Alpha-Gal and 2 bands of Lymes. Since it is genetic and I was supposed to have it all my life, why wasn't it caught on other MRI? Or when they removed my kidney. Doctors are of no help at all.

    1. As mentioned in the post. TSC (Turberous Sclerous Complex) and LAM (Lymphangioleiomyomatosis) I am only clinically diagnosed as I have neither the TSC1 or TSC2. They are genetic disorders but about 10 to 15 percent don't have the genes, they sometime call it Mosaic.

    2. Thank you for clarifying that for me. I'm so sorry that your doctors weren't able to diagnose you sooner.
      I wasn't diagnosed with cystic fibrosis until last year, at age 65... it explained most everything that was/is medically wrong with me... I do find some joy in knowing that at least I was able to tell my recent pulmonary doc what she should have done ...what the experts I finally went to did to get me properly diagnosed. She actually thanked me and said she would be getting proper testing done on a few other patients presenting with similar symptoms.

      There's definite grieving to go through when you feel that healthcare providers have failed us... I'm sorry you've had to go through this.

      Thank you for sharing,

      Gina Miller
      Team Member

  4. It took 68 years to receive the GA2 diagnosis.

    1. Thanks for sharing. That's a very long time. I hope it brought some relief your way to learn about your diagnosis?
      I use the word relief because I was finally properly diagnosed with cystic fibrosis at age 65 last year. It explained almost all of my many prior diagnoses and health issues. Although I know it can feel overwhelming to get a serious diagnosis, especially after a long journey of not really knowing why one is ill, it can at times bring relief too, and lead to learning more about what we dealing with, and hopefully proper treatments.


      Gina Miller, Team Member

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