Getting a diagnosis

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

Discussions

Sound like a Mast Cell Disorder?

Bruce_Hart
  • By Bruce_Hart · New reply yesterday at 3:51 pm
  • 9 replies
  • Hi everyone. I just learned of the mast cell conditions and they seem to fit me very well and I would like to get tested soon. I'm very excited that I may have discovered my problem that I've had for ...

tarlov cysts

kittun
  • By kittun · New reply yesterday at 3:00 pm
  • 11 replies
  • I just found out a couple days ago that i have Tarlov Cysts, but havent seen a neurosurgeon yet until they call. when the nurse called after my MRI she said I have abnormality perineural cysys associated ...

Sun rash

Ecooley11
  • By Ecooley11 · New reply yesterday at 1:06 pm
  • 4 replies
  • My daughter who is 7 has had a sun allergy since she was about 3. After exposure she ends up with abdominal pain light sensitivity, headache, vomiting change in stool color and a rash. Sometimes they ...

POEMS syndrome

Kathie375
  • By Kathie375 · New reply May 14, 2012
  • 1 reply
  • Is there anyone on here who has been diagnosed with POEMS ...

my own symptoms

joegood
  • By joegood · New reply May 14, 2012
  • 3 replies
  • as i am new to this i dont really know where to start. i have a freind who has some of the symptoms ive seen on the en. site. i myself have my my own. they include brain fog, blurred vision, cognitively ...

MASTOCYTOSIS ???

rico1974
  • By rico1974 · New reply May 14, 2012
  • 58 replies
  • 8 long years ago I started on a new treatment called Xoilair for my chronic asthma... I was 200 pounds and only 5 foot 1.. I started to feel nausea all the time and started vomitting and i lost 70 pounds ...

Dysautonomia - Vanderbilt vs. Mayo in Jacksonville, FL

katieindixie
  • By katieindixie · New reply May 13, 2012
  • 2 replies
  • I managed to get an appt in both places within a week of each other. The vanderbilt clinic is 2 hours from our home. Jacksonville is 12 hours. Wondering if anyone has experience with either dysautonomia ...

Possible Fungus-Need Help Dont know what to do next

TCX777
  • By TCX777 · New reply May 12, 2012
  • 23 replies
  • TCX Most Recent At The Bottom (Please Read All if You Can) Age-19 March 2011 Lives in Asheville NC My Story-Please Help Okay so instead of just giving you a list of symptoms i decided to give a story ...

Dysautonomia & POTS

EPAstor
  • By EPAstor · New reply May 12, 2012
  • 6 replies
  • Hello all, I've made (I think) a grand total of one post so far... about my fiancee, and how her symptoms were baffling all the doctors. Almost 2 years now from acute onset, with chaotic but progressive ...

Hirschsprung's

Lauren1993
  • By Lauren1993 · New reply May 11, 2012
  • 1 reply
  • Hi Everyone I was wondering if there was anyone else out there with Hirschsprung's? I am 18 and have had severe constipation for as long as I can remember, but it was only within the last 12 months that ...

Painful Years

LinLin1986
  • By LinLin1986 · New reply May 10, 2012
  • 8 replies
  • I'm 26 years old now, although I would love to say that I am a typical woman in her 20's. However I'm unable to say that. It's been over 3 years now and I have had nothing but pain almost everyday, sometimes ...

Castlemans disease

Kathie375
  • By Kathie375 · New reply May 10, 2012
  • 7 replies
  • Once again I am hoping to find others with Castlemans disease. We have 2 family members with the disease so far ...

1q21.1 duplication syndrome

dazzle7
  • By dazzle7 · Posted May 9, 2012
  • 0 replies
  • Does anyone else have a child diagnosed with 1q21.1 duplication syndrome ...

Rare FMF M694del

Calamityjane
  • By Calamityjane · Posted May 9, 2012
  • 0 replies
  • I was originally diagnosed with SLE (Lupus) some 25 yrs ago. What a journey! M694del is rare heterozygous dominant with variable penetrance. Welsh/Scottish link?? Have had common symptoms plus some rarer ...

INAD

umismom
  • By umismom · Posted May 8, 2012
  • 0 replies
  • HI,I AM MOM OF A 9 YEAR OLD BOY DIAGNOSED WITH INFANTILE NEUROAXONAL DYSTROPHY,A RARE INHERITED NEUROLOGICAL DISORDER.I AM LOOKING FOR SOME ONE WHO IS DIAGNOSED WITH THE SAME DISEAS S I CAN DISCUSS THE ...

test results wondering if it points to masto

cojaygi
  • By cojaygi · Posted May 8, 2012
  • 0 replies
  • Hi I just received one test back that I'm waiting on. Prostaglandin E2 Serum came back high @ 44 012 9 not extremely high. I'm doing a 24 hour urine collection now for N - Methylhistame and 11 beta prostaglandin ...

Spherocytosis

Adrian02
  • By Adrian02 · Posted May 8, 2012
  • 0 replies
  • Does anyone who has spherocytosis have a complication with the lungs do to the spherocytosis ...

Isaac's syndrome

Lynn2
  • By Lynn2 · New reply May 7, 2012
  • 1412 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 ...

Partial Nephrogenic Diabetes Insipidus?

orionsbelt
  • By orionsbelt · New reply May 7, 2012
  • 32 replies
  • I am in the process of being diagnosed with NDI,I suspect I have the partial version of the disease. For the last 2 years I've been peeing 20-30 times a day and feeling dehydrated and its been like having ...

Anyone else here with Polycythaemia?

nornd
  • By nornd · New reply May 6, 2012
  • 6 replies
  • Hello. I have been told I have a high haemoglobin count. It's called polycythaemia. I'm in a state of shock because it puts me at risk of stroke or heart problems. does anyone have any advice or knowledge ...

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