Genetic Alliance Rare Disease & Genetic Conditions Support Community

The Genetic Alliance Rare Disease & Genetic Conditions Support Community connects patients, families, friends and caregivers for support and inspiration... More about this group

Mac Tel Support

By kimn1954 · New reply 10:21 am
Discussion in My disease has no treatment · 833 replies
This is a continuation of the discussion called "Idiopathic Juxtafoveal Telangietasis Type 2" started on July 15 2012, under the NORD Rare Disease Support Community, in the My Disease Has No Treatment ...

Holy Cow

By Guitarguy123 · New reply 10:12 am
Discussion in Getting a diagnosis · 2 replies
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 ...

Brain surgery Tuesday am-prayers please

By Liiiveinhope · New reply 6:49 am
Discussion in Finding emotional support · 3 replies
One of my dearest friends is having surgery tomorrow am to remove as much as possible of a brain tumor. The trigeminal pain has become too monsterous to bear. I'm asking for prayer for her please. In ...

Help I need advice to get a diagnosis

By AJ88 · New reply 6:25 am
Discussion in Getting a diagnosis · 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 ...

left Phrenic nerve removed

By janemad · New reply 4:02 am
Discussion in How my disease has changed my life · 4 replies
hello everyone i just found this forum and i am hoping and praying someone can give me any info on the loss of my left Phrenic nerve . i had surgery to remove a tumour in my chest just over a month ago ...

I went away to come to Life!!

By Billie_Jo · New reply 2:58 am
Journal · 10 replies
Hi Everyone.... First, let me apologize for my random absences.... That's why some of you have my email, and even phone to text.... I kind of have a habit of disappearing for a time, then popping back ...

Spherocytosis

By Avaddimom · New reply yesterday at 10:56 pm
Discussion in Getting a diagnosis · 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 ...

Oculopharyngeal Muscular Dystrophy

By ebiggs · Posted yesterday at 10:53 pm
Discussion in My disease has no treatment · 0 replies
What is your experience with the disease ...

Mast cell site

By josie75 · New reply yesterday at 9:08 pm
Discussion in Getting a diagnosis · 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
Discussion in Getting a diagnosis · 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
Discussion in Getting a diagnosis · 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 ...

A prisoner in my own body thanks to RSD

By ememk4 · New reply yesterday at 5:22 pm
Journal · 8 replies
Im 15 and have RSD in the right side of my body in many different spots. I was diagnosed in march and have been waiting it out find out what I am supposed to do from here. I started physical therapy she ...

Building community

By joyceg98 · Posted yesterday at 1:23 pm
Journal · 0 replies
Here's a great list from Robin Martinez of SmartPatients about how YOU can help to build the community. You are already doing most of this, but it's a good reminder of what makes these communities so ...

Another Update On My Life

By LucyHeart · Posted yesterday at 12:15 pm
Journal · 0 replies
Hey everyone! Remember my last journal? If you don't, you can find it on my profile. I have been doing great. I have tried lots of different foods and not all tasted good but I have found some new foods ...

Mastocytosis? In need of some help!

By Nrdeco · New reply yesterday at 11:16 am
Discussion in Getting a diagnosis · 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 ...

AL-ANTIBODY- TRIAL LIVE IN THREE LOCATIONS

By Muriel · Posted yesterday at 9:54 am
Journal · 0 replies
AL-ANTIBODY- TRIAL LIVE IN THREE LOCATIONS NEOD001 TRIAL NOW LIVE AT THREE LOCATIONS IN USA: See our website www.amyloidosissupport.com near flames on top for locations and for the fact sheet…if you have ...

Diagnosis help

By Harvest · Posted yesterday at 9:32 am
Discussion in Getting a diagnosis · 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 ...

FAP-TTR-HEREDITARY- TTR TRIALS LIVE - ISIS

By Muriel · Posted yesterday at 9:27 am
Journal · 0 replies
HEREDITARY- TTR TRIALS LIVE - ISIS http://www.clinicaltrials.gov/ct2/show/N CT01737398?term=ISIS+FAP&rank=1 http://www.amyloidosissupport.com/ISIS_4 20915_final.pdf ISIS TRIAL NOW LIVE AT THREE LOCATIONS ...

A Little Girl With Giant Axons....

By runnergirl1 · Posted yesterday at 8:31 am
Discussion in My disease has no treatment · 0 replies
“When you hear hoof beats, think horses, not zebras.” So goes the mantra of first-year medical students. If a common disease is a horse and a rare disease a zebra, then giant axonal neuropathy (GAN ...

Any one with Sneddons Syndrome

By kworkman · Posted May 19, 2013
Journal · 0 replies
I have been going in circles trying to find a doctor comfortable treating Sneddons Syndrome . I live in Md but willing to travel does any one know what Dr diagnosis and treats Kim ...

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The Genetic Alliance Rare Disease & Genetic Conditions Support Community connects patients, families, friends and caregivers for support and inspiration. This community is sponsored by Genetic Alliance, an Inspire trusted partner.