I have angiokeratoma's ,tinnitus, IBL like symptoms, Chest Pains, feel worn out a lot & Cornea Verticillata . My doctor say's we still need to provide more evidence in order for my insurance to pay for the enzyme essay test. So I guess my question is, how good are those over the counter genetic test ? And would they even be considered ?. currently waiting on normal lab tests to come back so feel like I have a good idea but no real answer as to weather or not I have this disease.
I found it morbidly humorous that you had an organ donation comment placed in your slide first thing. Like, " Hey All! In the case you die young, people could use your organs!"
i had a braininfarct a jear ago, got an MRI and there was al lot of white matter in my brains, futher blood testing and probebly i have Fabry i now do have tor do the dna testing, its frustrating that i dont find informating about the WML, my memorie is very bad and feels like ist getting worse. does anyone know where to get the right information?
@@Pandeyy-u1h you need to request an enzyme assay test. Sometimes a regular doctor will request it for you or a geneticist can request it. The affected gene is the GLA gene. In men an ezyme assay test is sufficient for diagnosis.
For more information, please join us for the Virtual UCLA CORE Kidney Health Conference on March 21st, 2021 from 11am-12pm PST! This event is free, virtual, global, and open to the public. This conference is focused on bringing you the very latest research information about the management of kidney disease at UCLA Health. Topics include COVID-19 and its impact, treating diverse communities, home dialysis, donation, transplantation, patient stories and much more. Please register by visiting the UCLA CORE Kidney Program website!
My brother has been diagnosed as this not well known by doctors it a big problem. He been very ill and lots of bad illness,heart defects so bad and hullusination s. But would this be from medication or is it from Fabry
I read on the US News & World Report that UCLA Nephrology was just ranked #3 in the nation! Congrats!!
Beautifully explained sir
I have angiokeratoma's ,tinnitus, IBL like symptoms, Chest Pains, feel worn out a lot & Cornea Verticillata . My doctor say's we still need to provide more evidence in order for my insurance to pay for the enzyme essay test. So I guess my question is, how good are those over the counter genetic test ? And would they even be considered ?. currently waiting on normal lab tests to come back so feel like I have a good idea but no real answer as to weather or not I have this disease.
Great talk, thanks so much
Many thanks! Very informative
I found it morbidly humorous that you had an organ donation comment placed in your slide first thing. Like, " Hey All! In the case you die young, people could use your organs!"
Thank you...
can the angioketaromas be very sparse and still be indicative of having it ? angiokeratomas can occur for many reasons
Yes, mine started in my early 20's. They have increased as time has gone on.
Super
i had a braininfarct a jear ago, got an MRI and there was al lot of white matter in my brains, futher blood testing and probebly i have Fabry i now do have tor do the dna testing, its frustrating that i dont find informating about the WML, my memorie is very bad and feels like ist getting worse. does anyone know where to get the right information?
What if I have angiokaratomas and some diarrhea but zero nerve pain. Should I get rested for fabry's
Hi how r u? Get testes for gla gene test
@@Pandeyy-u1h you need to request an enzyme assay test. Sometimes a regular doctor will request it for you or a geneticist can request it. The affected gene is the GLA gene. In men an ezyme assay test is sufficient for diagnosis.
For more information, please join us for the Virtual UCLA CORE Kidney Health Conference on March 21st, 2021 from 11am-12pm PST! This event is free, virtual, global, and open to the public.
This conference is focused on bringing you the very latest research information about the management of kidney disease at UCLA Health. Topics include COVID-19 and its impact, treating diverse communities, home dialysis, donation, transplantation, patient stories and much more.
Please register by visiting the UCLA CORE Kidney Program website!
My brother has been diagnosed as this not well known by doctors it a big problem. He been very ill and lots of bad illness,heart defects so bad and hullusination s. But would this be from medication or is it from Fabry
Hi Claire..we are conducting online research on Fabry patients. could you please share your email address
I have fabrey and never have hallucinations but have severe pain
I have Fabry's and never have hallucinated from it.