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Thursday, February 6, 2014

Fibromuscular Dysplasia, Brain Aneurysms, Ehlers Danlos, Marfans. We overlap, we need research!

Another of the story in a series of guest blogs featuring patients and families that are impacted by the closure of rare disease research by NIH/NIA. Patients are not satisfied with the response we have received from NIH/NIA. We want to get the message out that closing our research affected people not just numbers in a study.

My guest blogger today has a special place in my heart. It was because of Melva that the FMD/EDS overlap was discovered.

Warm Regards, 

Kari Ulrich
Rare Disease Advocate and Patient

Written by Melva Buck: 

I went the first year after diagnosis with little info on FMD. My drs knew even less. So I waited to just die. About that time my mom moved in with me due to dementia. I noticed a lot of weird stuff going on with her. Her Dr and I were friends and he could not answer my questions. So I plugged all her symptoms into the laptop and saw EDS. I knew in an instant that I had EDS and her too. I compiled data and pictures and found the EDS study online. Dr Naz agreed to see me. After she saw me then she labeled me with 2 rare disorders. A short time later- a group from the first online FMD group decided to meet up. I knew when I saw them that they had EDS as well. I asked them to go to the study and they did at their own expense. They agreed and Dr naz realized something was up. She opened the EDS study to include FMD She is the REAL HERO I LOVE THAT WOMAN!" 

Melva Buck 

Guest Blogger: Melva Buck

I was diagnosed with Fibromuscular Dysplasia after I had brain aneurysms rupture in 2000.  I was diagnosed with Ehlers Danlos in 2003 at the NIH in Baltimore, Md.   I was told by Dr Naz McDonnell that I had an overlay of Marfans and she advised me to watch for aortic root dilation.

I gradually saw my aortic root dilate from 3.6  to 3.7  to 3.8  to 3.9    every 6 months.   I was advised to see a surgeon  at 4.0. During this time period, John Hopkins did a study where Cozaar would reduce the size of aortic root dilations.  I was given the Cozaar and my aortic root reduced back to 3.6 with no surgery.

So to my point...    The NIH study saved my life by giving me the info on EDS and Marfans.  John Hopkin's study saved my life by the study on Cozaar.

Patients with rare disorders depend on the new information that are generated by these studies.   Please help us stay alive by allowing these studies to continue.   My husband is dead from cancer and I have 3 teenagers who realy need their mom.    

Thanks, Melva Buck

Thanks to FMDChat our petition to reinstate our research will be hand delivered in Washington DC by patients on Rare Disease Day

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