Sunday, December 18, 2016

Can the Mice Save Our Families?

Still Not Understood
Although at times the BAV journey is lonely,
always remember to see the beauty along the way!

I was chatting with a member of our family not long ago. I never actually expected to have to say to this person what I have told so many others, those who have contacted the Bicuspid Aortic Foundation over the years: 

"The doctors will not understand you.
 There are no convenient labels or terms to describe you in medicine.
 Don't be discouraged, and don't let them tell you it is anxiety.
 Your symptoms are real. 
It is just that no one understands it all."

The doctors had already offered anti-anxiety medication which, in this case, was very wisely refused. We have a plan on how to move forward, but it is not an easy path. Just saying that we come from a BAV family does not help at all. BAV is still looked at primarily as an isolated defect in the heart.

What About Our Tissue?

Those with BAV, at least until now, are not generally referred to as having a tissue disorder. I have believed for a long time that they do, but without proof. It was based on my own husband, others I have met, and over time, other members of our family. Unlike some other conditions, BAV families blend into the general population very well. If anything, they are over-achievers and at periods in their lives at least, glowing with health, vibrant and full of life.

And then, at some point, and to varying degrees, they fall apart. Maybe it is their bicuspid aortic valve, maybe an aortic aneurysm, or both, maybe the "electrical" side of their heart, maybe other parts of their bodies - eyes, joints, GI tract - give them trouble. I will just mention two areas on my mind because of our own family right now.

The Eyes

Ever since I heard Ken Simon's story, I have worried about my husband's eyes. Before he lost he life to aortic dissection, Ken had an eye emergency - retinal detachment. My husband has had very poor eyesight from birth, and I have always wondered about his eyes. We have had his eyes examined carefully by multiple specialists, trying to proactively guard his sight. Some of those specialists were incredibly arrogant, but we persevered because eyesight is such a precious thing. He has been told that he has thin areas of the cornea in both eyes, and that he was "probably born that way".  So far at least, my husband has avoided a detached retina. Much to my shock though, it happened to a member of our family not long ago. Someone with thin areas of the cornea also. Someone with other characteristics through out the body that are a lot like my husband.

The Electrical Side - Abnormal Heart Rates and Rhythms

Sometimes they have heart rates that sky rocket without warning - again, I am thinking of my own family and also others I know well. Why? On the other hand, my husband's heart rate can drop like a rock on beta blocker medication, so he has to watch the dose carefully.

Mice Just Like Us to the Rescue! 

It is hard to describe the longing to at least be believed, if not understood, by physicians. Listening to Professor Mona Nemer recently describe the families of mice with BAV in her laboratory at the University of Ottawa was indescribably wonderful. These mice sound so much like my own family, and other families I know. And Professor Nemer and those in her laboratory are making great progress in understanding them!

Some of them have BAV's, but not all of them - at least not obvious leaflet malformations. Some of them have aortic aneurysms, some have malformations of the aortic arch. It varies, just like in human families.

There are issues with their blood pressure! And some of them develop "electrical problems" with their hearts as they get older. Yes, just like in human families!

It Is the Tissue!

These precious mice are teaching the researchers about us. I am moved beyond words by their contributions. I was beyond thrilled when Professor Nemer said that it is a problem with the tissue, based on a genetic defect! Yes, at last, someone is seeing the big picture throughout the body!

Personally I am very grateful to these little mice and the researchers who study them. I hope to live to see the day that conversations like the one I mentioned above are no longer necessary. As the year closes, I want to remind everyone that donations to the Bicuspid Aortic Foundation will directly support the research being done with these mice, who are so very much just like us!
Amaryllis Fantastica

Best wishes to all through
 out this holiday season,
 and may this New Year of 2017 bring 
more answers, 
more understanding,
and more hope
 for families with BAV.

~ Arlys Velebir