What is Fabry?

Fabry disease is a fat storage disorder caused by a deficiency of an enzyme, alpha-galactosidase A (also called ceramidetrihexosidase), involved in the breakdown of fats. Since fat doesn't break down properly, part of it (globotriaosylceramide, also called Gb3 or GL-3) accumulates in the blood, blood vessels, and organs of the body and causes damage.

Fabry disease may be hard to detect because several of its signs and symptoms overlap those present in other diseases and conditions. Patients do not typically have all of the symptoms associated with Fabry, while others may develop them at different times throughout their lives.

It is important that the doctor finds out whether there is a family history of Fabry disease whenever it is suspected.

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Activity

dkel9307 replied to Scott Orn's discussion Sean Vitka & Blue Redefined Patient Organization Sponsors Ben's Friends
"Great news, Scott! Thanks for sharing."
Jul 23
Scott Orn posted a discussion
Sean Vitka & Blue Redefined Patient Organization Sponsors Ben's Friends
Thrilled to announce that Ben's Friends received a $1,500 donation from Sean Vitka and Blue Redefined (http://www.blueredefined.org/), a non profit patient organization. It's incredible to be recognized by another patient support organization. And t…
Jul 21
Ninibeth replied to dkel9307's discussion What is the worst thing about being sick?
"Good question. Personally not just feeling bad physically and emotionally. Also because there were things that I wanted to do and I couldn't."
Jul 10
Ninibeth liked dkel9307's discussion What is the worst thing about being sick?
Jul 10
Scott Orn’s discussion was featured
Ben's Friend Partnership with PicnicHealth - Electronic Medical Records for Patients With Rare Diseases
A few weeks ago, my friend Noga Leviner told me she was building an Electronic Medical Records system for people with rare conditions. It's called PicniceHealth (www.PicnicHealth.com/site/bens-friends). Noga has Crohn's so she knows what it's like t…
Jul 5
dkel9307 liked Scott Orn's discussion Ben's Friend Partnership with PicnicHealth - Electronic Medical Records for Patients With Rare Diseases
Jul 5
Scott Orn posted a discussion
Ben's Friend Partnership with PicnicHealth - Electronic Medical Records for Patients With Rare Diseases
A few weeks ago, my friend Noga Leviner told me she was building an Electronic Medical Records system for people with rare conditions. It's called PicniceHealth (www.PicnicHealth.com/site/bens-friends). Noga has Crohn's so she knows what it's like t…
Jul 5
dkel9307’s discussion was featured
What is the worst thing about being sick?
Hi Everyone Just wondering - what have you found to be the worst thing about being sick? Kind regards, Dkel
Jul 4
dkel9307 posted a discussion
What is the worst thing about being sick?
Hi Everyone Just wondering - what have you found to be the worst thing about being sick? Kind regards, Dkel
Jul 4
Ninibeth replied to dkel9307's discussion What Are 10 Things We Don't Know About You?
"Hopefully one day!!!"
Jul 2
dkel9307 replied to dkel9307's discussion What Are 10 Things We Don't Know About You?
"Lovely Ninibeth! Australia would love to see you here :-)"
Jul 2
Ninibeth replied to dkel9307's discussion What Are 10 Things We Don't Know About You?
"1- I am a volunteer moderator for Bens friends. 2- From Puerto Rico 3- Survivor from a massive brain hemorrhage and had 2 brain surgeries 4- Have a Bachelor Degree on Sociology and Master Degree in Psychology 5- My sister is my best friend 6- H…"
Jul 1
Ninibeth liked dkel9307's discussion What do you think these Fabry patients survey results mean?
Jun 30
Ninibeth liked Scott Orn's discussion If You Could Choose 2 New Things For Your Support Group What Would They Be?
Jun 30
Ninibeth liked dkel9307's discussion What Are 10 Things We Don't Know About You?
Jun 30
dkel9307’s discussion was featured
What Are 10 Things We Don't Know About You?
Hi Everyone Some of our other Ben's Friends Communities have had some fun and gotten to know each other better by answering such a question.  Here's mine: 1. I was born in England and was 16 months old when my parents emigrated to Australia. My sis…
Jun 30

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