Rare Diagnosis Experiences
How long did it take you to get diagnosed with your rare disease? Did you receive any misdiagnoses?
Diagnosed as polymyalgia rheumatica and myositis. Has taken 8 years, and i made the diagnosis by therapeutic trial of mestinon. However, my son diag with chronic progressive opthalmoplegia as teenager, and have requested genetic consult now for me.
Hi
,
Thank you for sharing about both your and your son's diagnoses.
Glad that a trial of a med helped you to get your current diagnosis.
I hope the genetic consult will help you further along your diagnostic journey.
Good luck,
Gina (Team Member)
Hi
, eight years is such a long time to go without relief. I'm glad that they finally arrived at the correct diagnosis. I wonder if they find a genetic link to your son's opthalmoplegia it will affect your diagnosis or treatment? Please stay in touch and let us know how you both are doing. - Warmly, Donna (Team Member)
I was miss diagnosed in 2019 with stage 4 cancer of the liver, lungs, kidney, spleen, cervical area and lymph nodes. Turns out my husband was the one that diagnosed me with the correct illness of sarcoidosis. It took 19 biopsies before the doctors would listen to him. , so glad to hear that you are optimistic and on the mend! - Warmly, Donna (Team Member) , oh my! I'm so glad you finally got the right diagnosis - bravo to your husband for his diligent research! Are you receiving appropriate treatment now? - Warmly, Donna (Team Member?
Misdiagnosed at age 2 with idiopathic hypotonia. Dxed with acid reflux, thin skin and 20 other things until her corneas started breaking down. The opthalmologist was the one that first mentioned EDS. From there it's been downhill with a trifecta of Autism and severe POTS rounding out her complex dx. And she's 19. Ugh
yes. My daughter. It's been a rough road as of late ,
I do hope things can improve for her.
Don't forget to take good care of yourself, too.
Hug,
Gina (Team Member)
My internist thinks it was 34 years for me to receive the right diagnosis of Familial Mediterranean Fever (FMF). I was diagnosed with Lyme's Disease when I was 10, but never fully fit the profile. Now, it seems that was the start of my FMF symptoms. There were lots of misdiagnoses over the years ranging from arthritis to fibromyalgia.
I'm having a good day today. I hope you are, too! , Yes, thanks! I'm especially happy that my little dog is responding well to the antibiotics he was recently prescribed for CRID - aka Kennel cough.
Smiles,
Gina
