Home         Forums  

Go Back   Marrowforums > Bone Marrow Failure Diseases > Bone Marrow Failure
Register FAQ Search Today's Posts Mark Forums Read

Bone Marrow Failure Causes, treatment approaches, terminology, related diseases

Reply
 
Thread Tools Search this Thread
  #1  
Old Thu Dec 15, 2016, 06:52 PM
JeriM JeriM is offline
Member
 
Join Date: Feb 2013
Location: Bay Area, CA
Posts: 14
Fanconi Anemia

I was diagnosed with ITP in my 20's. Diagnosed with moderate AA in my 40's. Diagnosed with genetic Fanconi Anemia at NIH last year at age 59, but it is not a definitive diagnosis, since it is a type they have never seen before. I receive weekly platelet transfusions (my platelets are in the teens). Does anyone else have FA?
Reply With Quote
  #2  
Old Fri Dec 16, 2016, 06:18 PM
JeriM JeriM is offline
Member
 
Join Date: Feb 2013
Location: Bay Area, CA
Posts: 14
I have almost none of the classic signs for FA. Only some conditions that we now can look back on and say, oh, that's why. They are still running various tests on me, trying to make sense of it. It's very frustrating to not know, because the treatment is completely different (NIH first accepted me, and then turned me down for the Promacta trial).
I am having an impossible time trying to find anyone in my age group (60) with this disease - it is almost always a childhood thing, and they die before they are 30.

Last edited by JeriM : Sat Dec 17, 2016 at 12:09 AM.
Reply With Quote
  #3  
Old Sat Dec 17, 2016, 01:41 AM
Hopeful Hopeful is offline
Member
 
Join Date: Jan 2009
Location: California, USA
Posts: 766
Hi JeriM,

I am curious if you failed the DEB test or if they detected a gene mutation that has been associated with Fanconi? There are so many more gene mutations that they look at now vs even 2 years ago. It seems like they are bound to find something! The question is what to do with that information...

Are they considering ATG for you?
__________________
55 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. small trisomy 6 clone, low-dose cyclosporine dependent
Reply With Quote
  #4  
Old Sun Dec 18, 2016, 01:08 AM
JeriM JeriM is offline
Member
 
Join Date: Feb 2013
Location: Bay Area, CA
Posts: 14
They found 2 gene mutations for mosaic FANC-A, nothing else. We are having another chromosome test performed at a different lab, and we just did a skin biopsy to have a different source of cells. They are also asking to have one of my sisters be checked because she had breast cancer, and sometimes FA goes hand in hand with the BRCA mutation (which I don't have). What to do with the info? Nothing, so far. I have both NIH and UCSF doctors putting their heads together, and they don't want me to start any treatment yet (although Danazol may be on the horizon). My counts are slowly and inexorably going down. I keep pushing and pushing for answers, and have met with another geneticist, but there doesn't seem to BE an answer at this time. I do know they are continually improving the testing and discovering new information - it is all very cutting-edge. Hopefully, they will also come up with a cure....

Last edited by JeriM : Sun Dec 18, 2016 at 02:27 PM.
Reply With Quote
  #5  
Old Sun Dec 18, 2016, 01:38 PM
Hopeful Hopeful is offline
Member
 
Join Date: Jan 2009
Location: California, USA
Posts: 766
Hi JeriM,

Have you tried joining the FA forum that can be found through this link:
http://fanconi.org/index.php/family_support

I don't know how active the group is, but it does seem to cater to adult patients and parents of children with FA.

I had FA genetic testing done as part of a research study. They would not tell me my results at the end but said to do genetic testing/counseling if I was interested. (I haven't done this yet.)
__________________
55 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. small trisomy 6 clone, low-dose cyclosporine dependent
Reply With Quote
  #6  
Old Sun Dec 18, 2016, 03:52 PM
JeriM JeriM is offline
Member
 
Join Date: Feb 2013
Location: Bay Area, CA
Posts: 14
Yes, thank you.
Reply With Quote
Reply


Thread Tools Search this Thread
Search this Thread:

Advanced Search

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

vB code is On
Smilies are On
[IMG] code is On
HTML code is Off
Forum Jump

Similar Threads
Thread Thread Starter Forum Replies Last Post
I am NOT aplastic anemia (new member) KristinR Tell Your Story 3 Wed Jul 16, 2014 11:51 AM
aplastic anemia and sudden severe hip pain Ellen McDonough AA 18 Fri Dec 6, 2013 08:10 AM
ASH 2011 - L-Leucine Improves the Anemia of the 5q- Syndrome Via Activation of the mT akita News and Events 1 Sun Nov 13, 2011 04:19 PM
Free Aplastic Anemia Update in Houston, May 2010 Marrowforums News and Events 0 Fri Apr 16, 2010 02:43 AM
2009 Ontario Fundraiser For Fanconi Canada, May 3, 2009, Vaughan, ON Doug Mylie Canada 0 Sun Feb 22, 2009 02:19 PM


All times are GMT -4. The time now is 07:47 PM.


Powered by vBulletin® Version 3.6.7
Copyright ©2000 - 2024, Jelsoft Enterprises Ltd.
Forum sites may contain non-authoritative and unverified information.
Medical decisions should be made in consultation with qualified medical professionals.
Site contents exclusive of member posts Copyright © 2006-2020 Marrowforums.org