Getting a diagnosis

With rare diseases, this can be a lengthy and frustrating process. Was it for you?



  • By ogonzo · New reply 10:32 am
  • 6 replies
  • I was diagnosed with Unicentric Hyaline-Vascular Castleman's in 2011. Had the mass completely resected with 4 satellite lymph nodes At the time, I had no specific symptoms other than the pressure on my ...

Isaac's syndrome

  • By Lynn2 · New reply 10:15 am
  • 1480 replies
  • Does anyone have Isaac's syndrome or have a relative or friend who does? Also, if you are just knowledgeable about this disease... Thanks, Lynn ...

11 year daughter having migraines

  • By bwhit1225 · New reply 9:03 am
  • 4 replies
  • My daughter has been having symptoms now for about a year and they are progressively getting worse. At first they thought it was Vocal Cord Dysfunction. She would have trouble breathing and be dazed and ...

Just Diagnosed

  • By Jewel142 · New reply April 10, 2014
  • 1 reply
  • Hi Everyone, I was just diagnosed with TMEP, I have it on my skin and in my organs. Yesterday I went for test to see if I have it in my bone marrow. I tried to look on line to see what this actually means ...


  • By curtew · New reply April 10, 2014
  • 3 replies
  • OK I had surgery Jan 2014 for a tumor on my right adrenal gland. Things were going great BP extremely low where it should be. But now my blood tests are coming back that my potassium is elevated and keeps ...

Isaacs syndrome

  • By Billross · Posted April 9, 2014
  • 0 replies
  • Does anybody on here know about this stuff ...

Cram Fasciculation Syndrome

  • By Dmedicus · New reply April 8, 2014
  • 4 replies
  • I was diagnosed with CFS within the last year. I have worked as a Paramedic for the last 15 years and now I am unable to work. What started out as pain in my thighs, eye twitches and leg cramps at night ...

Another Bone Marrow Biopsy

  • By lwilson2665 · New reply April 8, 2014
  • 3 replies
  • Hello everyone. I met 2 weeks ago with Dr. Chou. He is an oncologist and hemotologist. At our first meetiing, he did the bone marrow biopsy in his office. Completely caught me off guard, but Thank God ...

Skin Biopsy Results, WHAT???

  • By summerrain1617 · New reply April 7, 2014
  • 15 replies
  • Hey all, So I had two separate "spots" biopsied from my abdomen last week in my dermatologist' office. The concern was for an abnormal amount of mast cells/ cutaneous mastocytosis and so my doc did a ...


  • By arbryan71 · New reply April 3, 2014
  • 3 replies
  • I just found out my NK Cell level is 7. Can anyone tell me what this means and how it is effecting me? Adam ...

quercetin and mast cell disease

  • By ps121 · New reply April 2, 2014
  • 13 replies
  • I have been diagnosed with MCAD now for over five years. My question, I take the usual Claritin and Singulair meds. My wife ran across discussions on quercetin and has started me on what the bottle reads ...

My latest doctor's visit

  • By Linthicum · New reply March 30, 2014
  • 8 replies
  • Well, my big day finally appointment at Johns Hopkins Allergy Immunology Clinic with a doc who is knowledgable of Mast Cell issues....7:30 am. I am especily sensitive to smells, lotions ...

Mac Tel

  • By Barricadebill · New reply March 30, 2014
  • 1 reply
  • I have had a final diagnosis that I have mac tel in my left eye after seeing an consultant eye specialist. I have been told that a steroid injection may help, also an injection of Avastin and possible ...

fevers with headaches

  • By mpearr · New reply March 30, 2014
  • 8 replies
  • My daughter has had FUO (fever of unknown origin) since she was 9 months old. She is now 6 years old and her sx are changing. Her fevers are now higher 102-103. There occur this high ever 1-4 weeks and ...

Please help!

  • By nicoledorman · New reply March 28, 2014
  • 18 replies
  • Hello, My daughter is three years old and we have been trying to figure out what is wrong with her for the last few months and I was just wondering if anyone has any ideas or suggestions. Brooklyn was ...

Test results, diagnosis with Dr Castells

  • By mamalaurie · New reply March 26, 2014
  • 43 replies
  • Hi Everyone! I saw dr Castells yesterday for my test results, treatment plan and definite diagnosis! Yes I do have systemic mast cell disease. My bone marrow was negative for mastocytosis as was the C ...

New here....scared.

  • By Queenbee1262 · New reply March 26, 2014
  • 16 replies
  • Hi, I'm Deb.....51 yr old Mom, wife and X-ray tech. Yes, I work full is getting so very difficult. I have MS and RA. I got a tick bite last summer and have been so much worse since then, I ...

TRAPS with low grade fever?

  • By LBBT · New reply March 25, 2014
  • 1 reply
  • My 10 year old son has been having "episodes" from the age of 4 months. He is in and out of the hospital regularly ranging from once a month to 3 times a year. We have had a multitude of "diagnosis" until ...

PEG Tube External Fixation Bumper Adjustment???

  • By Vkey66 · New reply March 25, 2014
  • 1 reply
  • I'm a 48 year old female, military veteran, who was diagnosed in 1994 with the mitochondrial myopathy' condition (KSS) Kearns Sayer Syndrome and CPEO. I've got a quick question for you all. I just recently ...

Recently Diagnosed

  • By angelernst · New reply March 22, 2014
  • 2 replies
  • for over a month, both hands (fingers mostly) and wrists have been causing me some significant pain. Five days ago, my pain level went through the roof and my fingers started swell. I went to the doc ...
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