Doing Good in the World of BAV and Thoracic Aortic Disease

BAV and aorta research in Ottawa involves mice like this one

My thoughts return often to the research in progress at the University of Ottawa.

 It is hard to find words that will convey what the efforts there mean to those of us with BAV and thoracic aortic disease.

I will try. 

One of the memories I have from my visit to Ottawa is holding the upper half of a human heart in my gloved hands. The lower half had been cut away. As I looked inside at the upper chambers and valves, to my surprise I saw this was a heart whose aortic valve had been replaced. The biological aortic valve that had been so carefully stitched in place by a surgeon's hands was still firmly in place.

I cannot describe the emotions that flowed through me then, and once again now, thinking of an unknown someone whose heart somehow came to be donated to medicine, to be studied after their life ended. I think of Dr. Abbott's work with preserved hearts in what is today the Maude Abbott Medical Museum in Montreal. There are hearts with BAV there. I hope to see them one day.

The cost of progress that others might live longer and more fully can indeed be very high. The cost of someone else's life. An even greater cost, a tragedy, occurs when lives are lost without learning from them how to help others. It means others will continue to suffer and die.

Everything about these mice, including diet, is meticulously tracked

Mice Hearts and BAV - Families Just Like Ours

We need not learn from our human families alone. At the University of Ottawa there are two different mice groups with specific genetic deficiencies that produce BAV. Like human families, some have BAV, some do not. Each one has their only individual experience, although having the same genetics. They are teaching researchers there about BAV, and they are very good teachers, accurately representing the variability of BAV and aortic aneurysm.  It was a great thrill to visit them and listen to what researchers are learning from them. This research is performed in the Nemer Lab, which is contained within the Department of Biochemistry, Microbiology, and Immunology. 

MRI for research in Ottawa
(Note the small, mouse-size opening!)

Echocardiogram machine
just right for mouse hearts!

Research is Costly

Dr. Sharo Raissi (BAF) with Dr. Daniel Figeys

Dr. Daniel Figeys heads the Department of Biochemistry, Microbiology, and Immunology within the School of Medicine at the University of Ottawa. This department includes the Nemer Lab and BAV research. Dr. Figeys very kindly gave us a tour of the research facilities.  It was impressive to see so much equipment in this facility that is solely aimed at understanding disease and alleviating human suffering.

 

 Doing Good in Our World

Dr. Sharo Raissi (BAF), Arlys Velebir (BAF), Dr. Daniel Figeys

At the Bicuspid Aortic Foundation, thanks to donations from the public, we have been able to fund scholarships to support BAV research in the Nemer Lab in Ottawa. They are adding important understanding to the knowlege Dr. Abbott established so long ago.
Some of us with BAV in our families will be called upon to teach the doctors who care for us more about BAV and TAD than they currently know. Those who have wise, skilled and compassionate physicians to walk beside them will indeed add to medical knowledge as their experiences unfold.

However, anyone so moved can make a contribution to help. In these last days and weeks of 2018, our thoughts may turn  to many things, including where we might give financially that will truly do good in our world.

This is to tell you that you can do good in the world of those with BAV and thoracic aortic disease through a donation to BAF, as we collaborate with those working to understand BAV and thoracic aortic disease. You may donate online at MightyCause 

Thank you for joining with us and

Creating a Climate of Hope,

~ Arlys Velebir, Chairman

        Bicuspid Aortic Foundation 

A Visit to the Molecular Genetics and Cardiac Regeneration Laboratory

So honored to be pictured here with the Molecular Genetics and
Cardiac Regeneration Laboratory researchers. Dr. Mona Nemer is 6th from the right

We met Dr. Mona Nemer initially through a phone call in December of 2016. As she described her work that day, at some point tears began to flow from my eyes. After searching for so long, someone was describing the BAV experience, in both individuals and families, just the way it happens, in my own family and so many others. Without minimizing, without trivializing, Dr. Nemer so fully described what I so painfully know to be true - the unpredictable and sometimes deadly experiences in BAV families.

Dr. Nemer is not a "people" doctor. She is a research scientist. And those individuals and families she talked about so movingly were not human beings, they were mice. Yes, mice families, but oh so much like my own! Families with bicuspid aortic valves and the other complications that can go with it.

I told my husband about these mice - about their two leaflet heart valves, their aortic aneurysms, their dissections, and their high blood pressure! We felt such a kinship to them. From that day onward, we had hope that these researchers would learn even more from these wonderful creatures, things that could help human families like ours and the many millions scattered around the world. It was a hope my husband remembered through out what became the last weeks and days of his life.

I dreamed of just spending a little time in this laboratory, meeting these talented researchers, and seeing these wonderful mice. In September, 2018, my dream came true! It was thrilling to walk into that very special laboratory at last - a place so focused on the challenges of BAV!

Dr. Lara Gharibeh and Dr. Alice Lau sit next to one another in the lab,
 such wonderful collaboration as they search for answers about BAV!

So special for me to look through this microscope that
 they use to study BAV in mice hearts!

Front left, Dr. Bernard Jasmin, Dean of the Faculty of Medicine, Front right, Dr. Mona Nemer
Back far right, Dr. Daniel Figeys, Chair of Dept of Biochemistry, Microbiology, & Immunology
The motto of the Medical School "We teach to heal" is on the wall in French and English

This laboratory is located at the University of Ottawa, housed within the Department of Biochemistry, Microbiology, and Immunology within the Faculty of Medicine. We were warmly welcomed by the Dean of Medicine, Dr. Bernard Jasmin, along with others, spending time getting acquainted before  a very special afternoon of research presentations by three members of the lab: Dr. Lara Gharibeh, Dr. Alice Lau, and Dr. Yuejuan Xu.

In September 2017, the Bicuspid Aortic Foundation provided a scholarship to Lara Gharibeh in support of her research on BAV. This is the paper that she published based on that work:
GATA6 Regulates Aortic Valve Remodeling, and Its Haploinsufficiency Leads to R-L Type Bicuspid Aortic Valve   The full paper is freely available at that link and speaks to the excellent, meticulous work done in this laboratory.

A few years ago, I wrote about BAV families being strangers, unrecognized and misunderstood, when they seek help.   Bicuspid Aortic Valve Families - Strangers in Two Worlds?  At long last, this first day and on the following days there in Ottawa, as a representative of BAV families, I was so warmly welcomed and understood by those who are working very diligently to understand and help us. It was a wonderful feeling, beyond description!! I have that warm glow with me still. I want to thank these researchers once again for what they are doing to help us.

Thank you for recognizing the challenge

and caring about those with BAV,

for seeking answers to the mysteries,

and in doing so,

Creating a Climate of Hope!

~Arlys Velebir

                           Bicuspid Aortic Foundation