Getting a diagnosis

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

Discussions

Help I need advice to get a diagnosis

By AJ88 · New reply 6:25 am
3 replies
Hi, I need your help to diagnose what is wrong with me. I started getting recurrent pleurisy last year (August 2012) and in January 2013 on my last bout I was admitted to hospital for multiple tests ...

Spherocytosis

By Avaddimom · New reply yesterday at 10:56 pm
6 replies
Hello I am 31 years old and I have spherocytosis. I still have my spleen however as of late it has been swelling a little or maybe a lot (I'm so used to the pain I can't tell anymore). My eyes are very ...

Mast cell site

By josie75 · New reply yesterday at 9:08 pm
247 replies
Hi all , I have done mast cells site .it covers all aspects inc - About mast cells, how there triggered - The contents released - Mast cell conditions and complications of mast cell like - kidney stones ...

Left Adrenalectomy

By MarshaR · New reply yesterday at 7:49 pm
5 replies
Hi! I've been diagnosed with Conn's syndrome. I'm having my left adrenal gland removed next month. Anyone have any comments/suggestions/experiences with a left adrenal removal? What should I expect ...

Sneddon syndrome

By kworkman · Posted yesterday at 6:31 pm
0 replies
Has any one had trouble finding a doctor to diagnose and treat Sneddons Sy ndrome. I keep going in circles every doctor I sees tells me to see a different doctor ...

Mastocytosis? In need of some help!

By Nrdeco · New reply yesterday at 11:16 am
9 replies
Hello!! I am new here & was hoping some of you could be of help to me. I am 30 years old and have been having strange episodes for the past 10 years. The doctors in my area don't know what it is & keep ...

Diagnosis help

By Harvest · Posted yesterday at 9:32 am
0 replies
Hi I have a 10 year old son whom was thought to have Marfan Syndrome however upon cardio examinations & a full body x-ray, it maybe that he has Snyder Robinson syndrome which is a syndrome that has Marfaniod ...

Holy Cow

By Guitarguy123 · New reply May 19, 2013
1 reply
Hi all, It been 10 years of confusion. All I can say is holy cow. So many doctors, specialists, and Internet searches. Finally, last week my cardiologists diagnoised me with POTS and then a bell went ...

Hemiplgic Migraines and permanent vision loss in left eye

By latisha39 · Posted May 18, 2013
0 replies
I have recently been diagnosed with Hemiplegic Migraines. However my doctor can't explain why i have now permanently lost vision in my left eye. When i have migaines it still comes and goes but there ...

Unicentric Castleman's Disease

By Scattel2z · New reply May 17, 2013
6 replies
I'm a 30 year old male living in California. In 2008 I went to the ER for acute abdominal pain with exploding diarrhea. The abdominal CT scan showed 2 swollen lymph nodes but otherwise normal. In 2011 ...

Anaphylaxis and angioedema

By 123loving · New reply May 16, 2013
8 replies
I am new to this site!! Three weeks ago I was admitted into the hospital with my upper airways closing! Very scary but they did not call it anaphylaxis, called it croup! Since then I have been to an ENT ...

PFAPA, Periodic Fever Syndrome in 3yr old. Possible break through!!!

By MaryMumOf2 · New reply May 16, 2013
9 replies
I think I may have come up with some answers to the above and felt compelled to share so other sufferers/parents could maybe have the same success as we have! My 3 year old had been suffering with 3 weekly ...

gastrocrom side effects

By Cape · Posted May 15, 2013
0 replies
Not sure if this is the right board for this, but has anyone had burning when urinating as a side effect of gastrocrom? And if so, is it something I should be concerned about? I've been taking it for ...

Share your advocacy stories

By sromesgene · Posted May 14, 2013
0 replies
Genetic Alliance is partnering with Parent to Parent USA (P2P) and Family Voices (FV) to collect resources that will support individuals who wish to act as advocates on behalf of themselves, their families ...

Cramp Fasiculation Syndrome and Swallowing

By Flashster · New reply May 11, 2013
1 reply
I have been diagnosed with cramp fasiculation syndrome. in the last 12 months. My presenting symptoms were swallowing issues, together with cramps and fasiculations. My bloods showed a raised VGKA of ...

anaphylaxis and MCAD

By ps121 · New reply May 11, 2013
24 replies
I have MCAD and have had a couple close calls now with shock and anaphylaxis. Yesterday while walking out of a pizzaria I suddenly and completely ran out of air as if someone had a vaccum cleaner down ...

Cramp Fasciculation Syndrome

By DrDoofuss · Posted May 9, 2013
0 replies
For all those unfortunate people who has suffered from this. I ask that we look for a link between EMF radiation in our environment, either at work or in the car or even in our homes. There is electromagnetic ...

"we've done all the tests; there's nothing else we can do"

By Jenright80 · New reply May 9, 2013
69 replies
Hello all, I joined this forum because of a google search that revealed how incredibly knowledgeable you all are. I am at a loss. I fear I have been labelled a psychiatric patient because it seems that ...

The Unsure Masto

By Mele · New reply May 9, 2013
1 reply
Hi everybody. I just emailed my primary care doc about Systemic Masto. He immediately emailed me and is sending me orders for a blood test.My story is way too long for today, BUT if I get a diagnosis ...

Mast Cell Activation Disorder?

By nucreashun505 · New reply May 8, 2013
29 replies
Hi all, I usually just readdwhat others have posted, but I am so frustrated that I decided to post. Dealing with an array of symptoms since 2007, I am finally getting somewhere. I was first diagnosed ...

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