September Awareness 2022 - Thoracic Aortic Disease - "Gradually, then Suddenly"

"Gradually, then suddenly." 

- The Sun Also Rises,

 Ernest Hemingway, 1926

What is happening in the walls of our largest artery, the aorta, gradually and silently, until one day, suddenly, there is a crisis? What about the pressure on a weakened aortic wall? 

My thoughts, as this September Awareness 2022 begins, are with a woman who lives in the eastern US.  She began this year deeply grieving the sudden death of her husband, reviewing his medical background, and bravely seeking answers, thinking of others in their family.

Sudden Aortic Death

It is an unspeakable tragedy when a long and happy life journey together ends without warning, without even a moment for any last expressions of love. 

Early in the morning, she heard the normal sounds of her husband arising, the routine start of a new day. But then, there was a great noise, the sounds of something falling on the stairs. She rushed to see what was wrong.

He never called to her, he never said her name. With her first glimpse of him, collapsed below her at the bottom of the stairs, she heard a little moan. By the time she reached him, he was already gone.

There were paramedics, but then instead of a rush to the emergency room, the wait for the medical examiner to come to their home.  Yes, he is among those who never reach a hospital alive.

The medical examiner called the next day to tell her what was found by autopsy: death was due to natural causes. What were those natural causes?  Cardiac tamponade due to aortic dissection. His heart could no longer beat, compressed rapidly into stillness by his own blood filling the sack around it.

Athletic,  Still Active and Youthful at 80!

Throughout his life, he was healthy and very athletic, excelling in rigorous sports. He remained very active and engaged in the community in his 80th year.

He had been seeing a cardiologist for about 6 years, because of his aorta.

They were told that he did not have an aortic aneurysm, "just an enlarged aorta". His wife interpreted that as "don't worry". He faithfully had annual visits with the cardiologist over those last 6 years.

After his death, his cardiologist told his widow that his aorta had only grown one centimeter in 6 years, and was not that large. He also mentioned his age as a consideration in terms of any intervention.

Some Details

He had a trileaflet aortic valve. He had a "funnel chest" that was never corrected by surgery. There is a bicuspid aortic valve in his blood relationship. 

What about his blood pressure? He was taking one blood pressure medication. He took blood pressure readings at home for awhile, and then later stopped.

What was his blood pressure during the days preceding and on the morning of his aortic crisis?

When the Thief Strikes

I hope it was some comfort to spend time with me, for her to tell me about this wonderful man so abruptly stolen from her. I think of her, together all those decades, coping through those first days, weeks, and now months without him.

There are many aortic specialty centers in that part of the United States where this family is. She cannot go with him for another opinion. The cruelty of this disease has done its worst.

She can, however, encourage their family, his living blood relatives, to seek out evaluation and care at one of them. Sadly, they now have a family history of a fatal aortic dissection to list on medical forms, due to the loss of a vibrant man, still youthful regardless of his number of birthdays. 

Yes, they know now that no matter what it is called, "enlarged aorta" or "aneurysm", it can kill. 

May rigorous pursuit of answers

prevent thoracic aortic disease

from gradually,

 then suddenly,

doing its worst.

~ Arlys Velebir

                         Bicuspid Aortic Foundation

September TAD Awareness - Life-long Aortic Care for Coarctation

The Right Emergency Care at the Right Time
An account published earlier this year describes what happened in 2018 along a stretch of Interstate 90, as one man returned home from vacation with his family. I share the article here:

Heart emergency - right care at right time

Twenty four years after his last aortic surgery, now age 44,  an aortic aneurysm was dangerously bulging in his chest. Who can say why, at that precise moment, his abnormal aortic tissue could no longer hold together and contain the blood pumped with each heart beat? 

In the article, Dr. Jason Knutson describes many things that went right, one after another, in saving his life. He mentions not knowing that the odds of survival were about 2% in a hospital, less out on a highway!  

Yes, he received the right emergency assessment and surgery at just the right time. Reading this article again now, for September Awareness 2021, my initial question remains: why didn't this man have ongoing aortic care and a scheduled, elective surgery to address his aortic aneurysm? 

In the article, Dr. Knutson mentions that after that first surgery, thinking everything was ok while growing up, an athletic heart screening revealed that another surgery was needed; the patch placed on his aorta at age 6 had not grown with him. He had surgery again at age 20. 

Father Prodomos' coarctation
"redo" surgery, patch
and rupture visible

Patching of coarctation was also the initial surgical relief that Father Prodromos Nikolaou had at age 2 in 1981, not repaired again until over thirty years later in 2015 as he writes here: The Hidden Danger: A Patched Coarctation . How long had it seriously endangered him before being addressed?  As pictured, surgery removed that section of aorta completely. It is important to warn others of such life-long risks!

Life-long Aortic Care - "the right care at the right time"

For those wishing more detail, this full paper from 2015 covers coarctation, including BAV and aortic aneurysms also.

Current management of coarctation of the aorta 

Regarding surgical solutions, the paper states that the patch solution is "avoided whenever possible due to the frequent occurrence of aortic aneurysm and rupture".

Prior to their conclusion, the authors write of this as a "lifelong disease" and the importance of "life-long surveillance", whether the coarctation has been repaired or not. 

The knowledge exists.  Are people receiving the care?

Life-Long Aortic Care and Coarctation

In the early years of  BAF, we came to know a talented young athlete who was diagnosed with BAV and coarctation. He had surgery while still in his teens. His family became well informed and understood the importance of ongoing vigilance.

We were also contacted by a very worried Mom. She had taken her 10 year old daughter to the doctor because of headaches. I will call this little girl Sally. The bottom line, following testing: Sally's aorta was narrowed, just past the arch (coarctation), restricting blood flow and building up pressure in the vessels feeding her head.

After I spoke with her Mom, she put Sally on the phone. I still hear her sweet voice across the years. I spoke to her once more, after she was out of the hospital. She told me in a very serious tone that she had been in the hospital "a long time" - not so long really, but it is always too long, even for adults - how much more at age 10!

Her Mom shared Sally's picture with us at BAF. A lovely young girl then, Sally would be in her 20's now. I hope she is living the active, vibrant life that awaited her then. I would be so happy to hear all about her life now. Most of all, I want to know: is Sally receiving Life-Long Aortic Care? 

For those with coarctation,

Life-Long Aortic Care

is

 "the right care at the right time"

~Arlys Velebir, Bicuspid Aortic Foundation

Misdiagnosis and Disease - A BAV Perspective

Misdiagnosis and the "Big Three" Categories: 75% of "Serious Harms" , 50% from 15 Diseases 

Two papers published in the journal Diagnosis in July 2019 and May 2020 seek to shed light on the harm done by misdiagnosis of known diseases. These open-access papers are available online, as listed below (1) (2).  The authors identify three major categories and five diseases in each of them that are estimated to account for about 50% of serious injury and/or death: vascular events, infections, cancers. 

A Bicuspid Aortic Valve Perspective

Of the three categories, both the vascular and infection disease categories are of particular importance to those with BAV. Clinical significance of the bicuspid aortic valve , published in 2000, states that BAV may be responsible for more death and morbidity than all other congenital heart defects combined. Perhaps it is not surprising then, that the diseases listed include several vascular and infectious diseases known to cause injury or death in some who were born with BAV.

Diseased aorta in the chest

In the vascular events category the 5 diseases are:

• Aortic aneurysm and dissection
• Arterial thromboembolism
• Venous thromboembolism
• Stroke
• Myocardial infarction (heart attack)

In the infection category the 5 diseases are:

• Sepsis
• Meningitis and Encephalitis
• Spinal abscess
• Pneumonia
• Endocarditis

From the authors' conclusion: "We estimate that roughly one in 10 patients* with a dangerous 'Big Three' disease is misdiagnosed, and roughly half of those misdiagnosed die or are permanently disabled as a result." (1)  They go on to note that there is no indication that the error and harm rates are declining. They also mention there has been improvement in those diseases that have received actual sustained emphasis over several decades. 

BAV and These Diseases

Reading these papers I reflected on my late BAV husband's experience with 5 of the 10 diseases above at different points in his life, and the challenges we faced with diagnosis and treatment. He survived these serious threats to his life until intractable bacterial endocarditis ended it. His doctors marveled at how much he was able to overcome, which is the case with so many other "BAVers" I know.

Each person with BAV has their own journey. Seeking help may bring them to a physician's office, the
ER, perhaps both. Once there, even at the very first indication of an issue, will the disease be found in time to prevent disability or death?

What Can We Do? Be Informed, Be Proactive!

What can we do when we need help? We can be aware of these too often-missed diseases - the possible presence of an aortic aneurysm, the pain of an aortic dissection crisis, the potentially deadly infections - sepsis, endocarditis, or even pneumonia.

 With that awareness and realizing that these diseases may be missed, we can ask questions and whenever possible get additional opinions from the best expertise available. 

We can pursue answers,

 without embarrassment when discounted and misunderstood,

realizing the consequences to our future

if potentially deadly conditions are not found in time. 

Perspective from Sir William Osler in 1907 - Diagnosing Aneurysm of the Aorta

These diseases have long plagued humanity, and the challenges in finding them are not new either. The following words were written long ago by the renowned physician, William Osler, regarding diagnosis and aneurysm of the aorta (3), 

"The well-known dictum of Jenner may be taken as text: 'More mistakes are made by not looking than not knowing.' A majority of aneurism of the thoracic aorta present suggestive features to the eye, but the inspection must be made with care." 

Writing of having missed aortic diagnoses, Osler mentions an example of someone named McKinley. He continues with the often quoted:

"There is no disease more conducive to clinical humility than aneurism of the aorta."

Continuing, his words at the close of the page are compelling, where he quotes Pirogoff:

"Mistakes occur with the most careful and most skilful. Sometimes the diagnosis is beyond our art; more often it is not made because of the carelessness that so easily besets us in our work. The confession of the great Pirogoff always seems to me most touching: 'There are in everyone's practice moments in which his vision is holden, so that even an experienced man cannot see what is nevertheless perfectly clear, at least I have noticed this in my own case. An over weaning self-confidence and pre-conceived opinion, rarely a weariness, are the causes of these astonishing mistakes.'" 

It is over 100 years since Osler wrote about diagnosing diseases of the aorta and aneurysms, citing Jenner and Pirogoff (4).  The tools of modern technology have not solved the diagnosis challenges. The authors of these recent papers, several from Johns Hopkins where Osler came as one of the founders in 1888, are bringing much needed focus to the harms done when certain diseases are not found or not found quickly enough. May the transparency and humility of Osler, Jenner, and Pirogoff, coupled with courage in the face of deadly diseases, be inspirations today to overcome limitations and find mechanisms to reduce misdiagnosis.

The Challenge in 2021

Doug Grieshop's Diagnosis,
 BAV with Aortic Dissection/Rupture,
 Came too Late, During an Autopsy

Consistently diagnosing just a small number of diseases in time (aortic aneurysm and dissection, endocarditis, and sepsis among them), would drastically alter the ability of these diseases to disrupt and destroy lives, some of whom were born with bicuspid aortic valves. Someone with BAV has too often been discounted with "anxiety", sent home when a heart attack was ruled out. Some are disabled, some have died. 

The crisis eventually passes,

 but the scars linger.

May the new light these papers are shining

 be a springboard to improve diagnosis,

significantly reducing injury and death.

 ~Arlys Velebir,  Bicuspid Aortic Foundation

(1) Newman-Toker, David E., Schaffer, Adam C., Yu-Moe, C. Winnie, Nassery, Najlla, Saber Tehrani, Ali S., Clemens, Gwendolyn D., Wang, Zheyu, Zhu, Yuxin, Fanai, Mehdi and Siegal, Dana. "Serious misdiagnosis-related harms in malpractice claims: The “Big Three” – vascular events, infections, and cancers" Diagnosis, vol. 6, no. 3, 2019, pp. 227-240. https://doi.org/10.1515/dx-2019-0019

(2) Newman-Toker, David E., Schaffer, Adam C., Yu-Moe, C. Winnie, Nassery, Najlla, Saber Tehrani, Ali S., Clemens, Gwendolyn D., Wang, Zheyu, Zhu, Yuxin, Fanai, Mehdi and Siegal, Dana. "Serious misdiagnosis-related harms in malpractice claims: The “Big Three” – vascular events, infections, and cancers" Diagnosis, vol. 6, no. 3, 2019, pp. 227-240. https://doi.org/10.1515/dx-2019-0019

(3) Modern Medicine Its Theory and Practice, Volume IV, Diseases of the Circulatory System - Diseases of the Blood - Diseases of the Spleen, Thymus and Lymph-Glands, Chapter XI Aneurism,William Osler, MD, FRS, p472.

(4) The Life and Work of Nikolai Ivanovich Pirogov (1810-1881): An Outstanding Anatomist and Surgeon

*Bolding added to quotations through out.

TAD Awareness 2019 - A Virtual Walk about BAF's Beginnings

September is Thoracic Aortic Disease (TAD) Month. What is it about?  Do we need a month just for TAD? Maybe we can explore this together, on our virtual walk today. This beach is a great place to walk - ocean breezes, blue skies, and the sand beneath our feet! Let me start by telling you my own experience with aneurysms and how the Bicuspid Aortic Foundation was born.

Aneurysm - A Medical Term

 There are technical words -  medical terms - used to accurately describe, communicate, and treat conditions and diseases. Medical textbooks and papers are appropriately written with such words. Thoracic aortic disease has these words, and I try to be very careful to use them properly. The visible indication of disease of the aorta in the chest is the medical term aneurysm, taken from the Greek, meaning widening out or dilatation. Some day maybe there will be other markers to find disease in the aorta even earlier!

My Definition of Aneurysm
For me, the most important meaning is the human experience. And so, on this walk, it is not the technical meaning I want to explore, but the meaning as defined by the lives who have been touched by it. Let me tell you about some of them.

Aneurysm and My Friend
Aneurysm, not in the chest, but in the brain was my first actual experience, my first real understanding, of this word. It entered

Decades have come and gone since
Saying goodbye at my friend's graveside here
She remains in my memories always,
Where she is forever 33

my life on a Sunday afternoon, with a phone call. The message was unbelievable - my friend was hospitalized with bleeding in her brain. Over the next few hours, there was more bleeding, nothing could be done, and gradually her still young body began to fail. She was gone. My memories of something so shocking have not faded. I still hear a little boy, scarcely more than a baby, crying for his mother. I still feel the grass beneath our feet as we walked to the graveside for that final goodbye. My definition of aneurysm stems from this experience - a crying child, a devastated husband - broken hearts forced to go on without someone so loved, so needed. Nothing could be more cruel than such a sudden, deadly killer.

Aneurysm Where?
I continued to be aware of brain aneurysms because of the loss of my friend. Did you know that aneurysms could be in the chest? I didn't. I thought they were in the brain.

Shocked and Terrified - an Aneurysm Above His Heart
When they stumbled upon the aneurysm above my husband's heart, I was shocked. I was terrified. I didn't even know it was possible! Deep inside was that real life definition of aneurysm I had learned years before. I thought this was going to kill him!

How could this be? He was supposedly fixed for life by his valve replacement surgery. I thought somehow they injured him when his BAV was replaced. After all, no one was saying anything to BAVers about aneurysms back then (1990). (They should have, as there were medical papers that associate BAV and aortic aneurysm in the chest - my favorite is Dr. Abbott's paper published in 1928!)

I kept my worst fears inside as we searched for answers. It was difficult, but we found our way to help.

Killer Disarmed by Successful Surgery
Can you imagine the feeling of relief when you are told that a ruthless killer has been disarmed? It was a wonderful, physical sensation that flowed though me, when the nurse told me that the aneurysm was removed, that the surgery had gone very well! Every step to reach that point, to find someone to help us, was so worth it! The aneurysm was gone. I would not find myself prematurely weeping at a graveside because of an aneurysm!

I knew how hard it had been to find that help. My only thought was to make it easier for others to learn about BAV and aneurysms - because when found in time, this killer could be disarmed before causing terrible bleeding inside the chest (dissection, rupture). I had seen it done!

BAF is Born
In time, out of the conviction that accurate information and knowledge can empower us to find help, the Bicuspid Aortic Foundation came into being.

After officially becoming a nonprofit, the first donation the Bicuspid Aortic Foundation received was a check in memory of Doug Grieshop. Doug's widow was the first family to contact us about untimely death from an aneurysm.  Doug had just turned 33 . He left behind his wife, young son and unborn daughter, other family members, and friends. Aneurysms, at their worst, take one life without warning and cause indescribable pain and suffering to those left behind. It is 15 years this September since they lost Doug, in 2004.

BAV and Brain Aneurysm
I know this is supposed to about aneurysms in the chest, this month of  September. Somehow, as we walk together, I am thinking of my friend and fellow board member at BAF, Carrie Mettler. Clicking here,you will find her story about BAV and brain aneurysm.   The discovery and successful treatment of her brain aneurysm is proof that those with aneurysms of the brain need not be terribly injured and lost either, when it is found in time!

Why TAD Awareness?
Doug Grieshop's family was the first to contact us about an aneurysm causing sudden death, but sadly, many others have followed.

We do not want anyone to experience an aortic emergency, 

we do not want to lose anyone else,

which is why there needs to be more awareness. 

 It is still a problem for those at risk to receive proper imaging of their aorta! Less than a year ago, I urged a family friend to request a CT scan of his chest (an echo had found a BAV). The cardiologist refused, saying it was unnecessary! Can you imagine saying it is not necessary to unmask and disarm a killer?! When physicians may not know or understand, it is important to keep seeking help through other opinions. Our friend eventually received the expert screening he needed, elsewhere!

This has turned into a long walk, so let's enjoy the sunset before we leave! 

Thank you for walking with me, 

Remembering those we have lost,

Others who were saved ,

As together, we create a Climate of Hope,

~ Arlys Velebir

                          Bicuspid Aortic Foundation

TAD Awareness 2019 - A Virtual Walk with Larry Abramson

September is Thoracic Aortic Disease Awareness Month
In 2019 BAF is raising awareness about Thoracic Aortic Disease through a "virtual" walk. From time to time this month we will invite you to walk along with someone with TAD, through reading their story.
Here we invite you to come and walk alongside Larry. He has an amazing story to tell, beginning at a very young age! Today he continues to live his very active, adventurous life! We hope that "walking" with him and "listening" to his story will inspire you to do the same! 

Age 4 - Diagnosis, Age 11 - First Valve Surgery

Larry Abramson

My BAV was discovered during a routine exam in 1959 when I was 4 years old. I was monitored every 6 months and restricted to "no sudden exertion or contact sports". But, life went on until Dec 1966 when I started having some issues with shortness of breath and actually fell while swinging on a rope hung from a tree. In Feb 1967, because of a thickening of the valve where the 3rd leafet would have been, the day after my 12th birthday, I went in to the hospital where they performed an aortic commissurotomy (opening up the valve to allow the valve to function better) but was told that the repair would probably only last about 7-8 years.

Age 20 - Second Valve Surgery

In 1975, I once again started having issues with shortness of breath and this time, at age 20, I went in and had a mechanical valve put in my heart at Bryn Mawr Hospital in PA. It was amazing to see the difference in the procedures in the 8 years since my first surgery. After the first surgery, I woke up naked, laying in an oxygen tent, on a bed of ice with the oxygen running through ice so they could bring my body temperature back up to normal very slowly. 3 days later, they finally allowed me to start eating a normal diet. This time, my body temp was already back to normal and, had I not accidentally pulled one of the drain tubes loose which collapsed my lung, I would have been back in my room the next day. From that day forward, I had a fairly normal life with no issues, and was just monitored every 6 months, though of course my Pro-time (now measured differently and called INR) was checked monthly.

Age 53 - Aneurysm Diagnosis and Third Surgery 

Larry and Michele in NYC in 2008, 10 days after surgery!

In 2008, I saw my cardiologist in June and was told everything was fine. In early July, I was browsing the internet and came across The Bicuspid Foundation website. While looking over the site, I found that they had recently discovered that people with BAV were developing aneurysm's in the ascending aorta. Well, I had just seen my cardiologist and he didn't seem concerned, so maybe it wasn't a big deal. But...the more I thought about it, the more concerned I became so I emailed the Bicuspid Foundation website to inquire about it. The next day, I received a message on my cell phone from Dr Sharo Raissi who was the medical advisor for the website and the Director of Thoracic Surgery at Cedar Sinai Hospital in L.A. The message said "this is my personal phone number...you need to call me...we need to talk!". Well, this was certainly disconcerting.

So, I called Dr Raissi and we discussed the fact that I had also had some hernia issues, which he explained were also connective tissue and that I should probably have an Echo or a TEE to get a baseline measurement. So, I called my cardiologist and we discussed it. At that time, he had not heard about the aneurysms but was willing to look into it. He called me back about a week later and agreed to an Echo. On July 25, 2008 I had an Echo which, according to the radiologist, revealed a 50mm (5.0cm) aneurysm in 2 places in the mid-to-distal ascending aorta. My cardiologist determined that I probably should see a surgeon, though he also admitted that there probably wasn't anyone in the Memphis area that could do it.

I saw a surgeon here, and my wife and I decided that he wasn't the one to do my surgery. So, I got copies of my films and did much research on the internet as to the best surgeons to perform this type of surgery; we sent them to a number of surgeons across the U.S. including Dr Raissi, the Mayo Clinic, Massachusetts General, Weill Cornell Medical/NY Presbyterian and a few others. Dr Raissi said that, in his opinion, the aneurysm looked to be about 5.4cm, and I got similar opinions from the other doctors.

After much discussion, we decided to go to NYC and NY Presbyterian to have my surgery done by Dr Leonard Girardi and on September 11, 2008, my aorta was repaired/replaced along with replacing the valve again because even though the original mechanical valve was working great, it was determined to be easier to put a one piece aorta and valve in vs trying to connect an artificial aorta to a mechanical valve.

Today

Now...eleven years later and 52 years after my first heart surgery, I'm still here kicking though granted, not as hard as I used to. I thought I would share this for those of you who are just finding out about your BAV, or that your child has BAV. It's a shock to find this out to begin with, but life goes on and you, or your child, can lead a normal life (yes, normal...I spent 32 years as a Federal Law Enforcement Officer, 19 years as a volunteer firefighter, I scuba dive, I rode a motorcycle for 20+ years (yeah, I know...not too smart being on Warfarin), and generally enjoy life. 

Hang in there...it will get better!  ~  Larry Abramson

Thank you, Larry, for sharing your life with us,

and

Creating a Climate of Hope,

~ Arlys Velebir

                          Bicuspid Aortic Foundation

TAD Awareness September 2019 - A Virtual Walk to Raise Awareness

TAD Awareness 2019 - A Virtual Walk to Raise Awareness of Thoracic Aortic Disease

Perhaps we can imagine a virtual walk together along the beach!

A Virtual Walk Together
Individuals and families impacted by thoracic aortic disease (TAD) are found all over the world. There are readers of this blog in many different countries, and it is likely we may never meet in person. However, this month we would like to take a "virtual walk" together with all who read here, through sharing stories of those with a form of TAD. We invite you to imagine walking with them for a few moments, as you read about them..

Background

Our imaginary walk together might take us here!

There was no awareness month for the aorta in the chest when the Bicuspid Aortic Foundation was formed. We believe it is important that, separate and distinct from what is commonly referred to as "heart disease", there is greater awareness of this major, vital artery that rises from the heart and the potential for life-threatening emergencies when it enlarges due to disease (aneurysm), tears (dissection), or ruptures. For those born with an abnormal aortic valve, such as those with bicuspid aortic valves (BAVs), they may at some point need both  their BAV, which is the doorway between the heart and the aorta, and an aortic aneurysm addressed. And so, we chose the month of September, a month far away from February, to distance thoracic aortic disease (TAD) from heart attacks and any confusion with what is commonly known as "heart disease", whose month is February. The aorta is worthy of having a month of its own!

You Are Not Alone

We need not walk alone with TAD!

We hope that in sharing real life stories this month, they will both inform and inspire all who read them, no matter where we may find ourselves in our personal journey with BAV and other forms of TAD.

There are many uncertainties and each each journey may be a little different, but we need not walk alone!  If we at BAF can share information with you, or just be there to listen and care, don't hesitate to reach out and contact us!

Walking together in September 2019

We are

Creating a Climate of Hope,

 ~ Arlys Velebir

                            Bicuspid Aortic Foundation

BAV, Aorta 4.5 cm and "Paper Thin"

Surgery is Behind Him Now!

Hope, Courage, and
 the Heart of the Warrior (red jasper)

With the soft chiming of a monitor as background music, his voice on the phone was music to my ears. From his hospital room he told me some wonderful things - he is recovering well, he has a new prosthetic valve in place of his failing BAV, and lots of his aorta was removed. He will soon be out the door and on his way home to recover, wonderfully repaired inside!

And then he told me something that gave me chills. His surgeon had found that his aortic aneurysm was paper thin. Yes, paper thin and fragile at "only" 4.5 cm.

In theory, it was not supposed to be that thin, fragile, and dangerous at that size. In some people, it is.
The challenge is, who are those people? How can they be identified?

His Failing BAV Justified Surgery

He contacted us at BAF after his initial diagnosis. He had additional testing and then sought a surgical opinion at a major center. The surgeon there initially thought of retesting again in 6 months, but after further reviewing the failing BAV and its affect on his heart, the decision was made to schedule the surgery.

Did a failing BAV prompt surgery

 in time to prevent his aorta from tearing? 

Yes, the known justification for his surgery was the BAV. That is because there is no way to know, no testing, to show how fragile the aneurysm is. Size alone does not tell enough.

There is no current testing to tell anyone that this aneurysm was dangerously thin and fragile at a relatively small size.

This is why even those who are diagnosed may dissect or rupture their aorta before they have surgery. One surgeon told me that a local hospital is actually seeing more, rather than fewer, dissections come to the emergency room. Something is very wrong with that picture! I am so thankful that it will not happen to this young man -  he will not experience life-threatening bleeding in his chest. Some time in the next 6 months, without surgery, what would have happened to him? That question, that threat, for him, is gone now.

He is 39 years old, a husband and father with young children. He is the typically active BAVer. He holds a responsible job and is intelligent and highly capable. In short, he is in the prime of his life.
Thanks to timely diagnosis and surgery, he will soon resume his active, busy life with his family once again.

Prevent Dissection and Rupture - They Should Not Happen!

Dr. Lara Gharibeh, Dr. Alice Lau
Both engaged in BAV research at U of Ottawa

This is why research that helps explain what happens in the walls of the BAV aorta is so critical. If markers can be found that will show which aortas are at high risk of tearing(dissection) and rupture, those people could have surgery before it happens.

This is why the recently published work about the BAV aorta at the University of Western Ontario is so important.  At the University of Ottawa, we look forward to the results of research on the aortas of BAV mice.  We are encouraged that there is an increasing awareness of this issue, and there are those pursuing greater understanding, such as the authors of this recent paper about BAV aorta risk stratification.

With Dr. Marc Ruel, Chief of Cardiac Surgery, Ottawa Heart Institute

The treatment for BAV and ascending aneurysms at this time is primarily surgical. While we wait for more answers, being proactive in searching for information and answers, consulting with knowledgeable surgeons at aortic centers, and making proactive decisions together, are all things that we can do to achieve the goal: safe, elective surgery. This young man has had his elective surgery now! He has our very best wishes as he returns home!

Asking questions,

Seeking answers, 

Together we are,

Creating

 a 

Climate of Hope,

~Arlys Velebir

        Bicuspid Aortic Foundation

Questions in Search of Answers in 2018

Questions Without Answers

Why do some BAVers tear/rupture their aorta?

Why do some BAVers have aneurysms that do not tear or rupture?

Why are there BAV/aneurysm and  TAV/aneurysm in the same family?

Why do some BAVs calcify and narrow?

Why do some BAVs leak?

Why do some BAVs do both: calcify/narrow and leak?

Why do BAVers get infection (endocarditis) in their hearts? 
Why do some BAVers develop blood pressure issues?

Why are many BAVers so athletic and energetic?
Why do many BAVers (and their TAVer family members) have "delicate tissue", joints prone to injury, "bad eyes", and other issues through out their bodies?
Why can't my doctor tell me ......?

Why............?

Why............?

Why............?

There are so many unanswered questions when it comes to the individualized care that each person with BAV and their blood relatives should have.

As this year comes to a close, we invite you to support our search for answers. Many of those answers may be found in the mice families being studied at the University of Ottawa. With your help, the Bicuspid Aortic Foundation wishes to continue to support this vital work. Online donations through Razoo may be made here. 


Thank you for joining us in our search for answers.

Best wishes in 2018,

~ Arlys Velebir

                       Bicuspid Aortic Foundation 

Urgent Call to Support BAV Research

Introducing Some Special BAV Families 

I do not have any pictures of them to share. Perhaps you can imagine them. 

They seemed to have such active, busy lives. Until suddenly, unexpectedly, they died. "Spontaneous deaths" they were called.

When I heard their stories, I cried. 

Why did they die like this?

We are fortunate that someone looked so carefully inside, seeking to answer that question. In their hearts they found something we at the Foundation have come to know all too well, an aortic valve with only two leaflets.

Human Bicuspid
Aortic Valve

Yes, they all were from BAV families.

They reminded me of  many we have met over the years, fellow travelers along the lifelong journey with BAV.

Before going further, let me explain why they are so special. They are families of mice, engaged in research. They live in the Molecular Genetics and Cardiac Regeneration Laboratory at the University of Ottawa.  Please click on the name to visit this laboratory dedicated to understanding our hearts.

Mice? Yes, they are BAV mice, mice with specific, known, genetic abnormalities. They are the first in a laboratory to consistently have bicuspid aortic valves and so strikingly mirror our human experience.

Just like us, these BAV mice families are far from straight forward. Some family members have obvious BAV, some do not. Some suffer tragic complications and premature deaths, others do not.

Our Doctors Simply Do Not Know Enough Today
Today, so little is known that doctors cannot predict very well how severe the consequences will be in the lives of those in BAV families. This is why some of us discover with time that their predictions turn out to be incorrect.

Professor Mona Nemer and the researchers in her laboratory aim to change that! They are learning so much from these wonderful little creatures and their special hearts and bodies.

The most immediate impact from their research will be the identification of biomarkers, predictive tools that can be used to test for and prevent tragedies, to distinguish between those who will have a more normal life and those who face major risks and need individualized, proactive monitoring and care.


Someone Who Understands 
As I listened to Professor Nemer speak recently, I was thrilled to hear a scientifically-based, compassionate discussion that described the BAV challenge so well. I credit these mice for being amazing teachers, representing us so accurately to these also amazing and talented researchers who seek only to understand, and in understanding, help alleviate human suffering. They have just begun to shed light on the answers our doctors so desperately need. This even includes the labile blood pressure issues that plague some BAVers during their lifetimes.

You Can Help Too!

This is the first research effort that the Bicuspid Aortic Foundation has found so compelling that we are directly fundraising in support of it.

Every 12 seconds, somewhere in the world, a child is born with BAV. Today, I have fresh hope that a new day is dawning, and their future, and that of all those living today, need not be so uncertain.

The most powerful thing that we can do today is support Professor Nemer's work.

  

Please, click here to donate.

This holiday season, 

may you know the joy and peace 

that comes to those who give from the heart,

Creating a Climate of Hope.

~ Arlys Velebir

                          Bicuspid Aortic Foundation

September Awareness 2016 - An Interview with Aorta and Heart

An Interview with Aorta and Heart

The aorta is the large artery seen rising up from the heart,
 with arteries branching upward to the head, then curving down

Two vital members of our body, Aorta and Heart, have agreed to be interviewed for Thoracic Aortic Disease Awareness Month 2016, hoping to set the record straight. They have so much to say, but for now agree to each limit this interview to their top three concerns. Aorta, being less famous, humbly lets Heart start first.

 Heart's Top Three

1. I am being confused with aortic disease in the chest.  
2. Aorta, you are so important! If you start bleeding around me, I may stop beating.
3. If it's not the Heart, check the Aorta!

Let me tell you and everyone, Aorta, being famous is not such a great thing. Have you done a search online lately, Aorta? The headlines scream about "Heart Problems", when you, Aorta, are the one with the problems. In these articles, aneurysm and dissection are mentioned - this is about you, Aorta, not me. How confusing is that! I know we are both in the chest, but in the year 2016 we should know better. There are enough problems that do belong to me, the Heart, without confusing me with aortic disease in the chest too. This is not just bad for my reputation, it is dangerous for the whole Body. We need to be very clear - is it a Heart attack, or is it the Aorta? Sometimes, in death, only an autopsy can tell for sure. I, the Heart, do not want to be blamed for deaths caused by Aorta!

Healthy Aorta

Aorta's Top Three

1. Nobody knows who I am. 
2. If they do know who I am, they seem to either not respect me or be terrified of me. 
3. Please, fix me before I break. 

People don't draw pictures of me, and I don't have a month with valentines, chocolates, and flowers dedicated to me. I guess no one ever thought that love was in their Aorta! Once you get to know me though, I am pretty amazing in my own right. There is just a lot of misunderstanding about me. Those who know me best do respect me and want to help me.

I have no desire to tear inside, or worse yet, fully break open. I'll admit, I'm not easy to work on, but it's going to be a lot worse for everyone involved if I start to bleed.  I'm so sorry that no one knows just when I may finally reach my breaking point. There are some clues, but knowing when to fix me is still a big challenge today. Maybe if I become a little more famous, more research will finally be funded. 

Thank you for giving me a special month of my own. I don't need the chocolates and flowers, just some attention! Please let me be clear, Heart does have a lot of problems. Just don't forget about me, your Aorta.  I hope September Awareness 2016 will help everyone learn more about me!

End of the Interview

The interview ended with Heart and Aorta acknowledging how close they are, special friends in the chest one might say. In health, they work together beautifully. They each just want their separate identities and problems to be understood, respected, and treated. They both deserve help and attention when they are diseased. After all, no one wants to be known as a killer. 

Before they left, Heart and Aorta enthusiastically repeated together, along with the interviewer, 

If it's not the Heart, check the Aorta! 

Learning Together

We are

Creating a Climate

of Hope!

                                           - Bicuspid Aortic Foundation

"No Big Deal" - When Will BAV Be Respected?

This child did not require treatment
 until an adult, but that is not always
the case in those with BAV.

The email below was received
by the Bicuspid Aortic Foundation today.

After so many years of trying to raise awareness,
once again we must ask, how much longer
will it take for the bicuspid aortic valve 
to be taken seriously?

"My son was diagnosed with BAV when he was 10 months old, which was 5 years ago.  At that time they basically told us that it was no big deal, and he would just need to get checked every 5 years.  They told us that people go their whole lives not having any issues.

He just had his 5 year follow up Echo with a new cardiologist and his ascending aorta z score is 3.24, which we were told is moderately enlarged.  When the doctor told me this I just started crying.  How does this diagnosis go from no big deal to now his Aorta is enlarged?

The doctor really didn’t tell me much because he didn’t know how fast his aorta is growing since his last echo was 5 years ago.  He basically said to bring him back if he was complaining of chest pain.

We have so many questions and no answers.

I don’t know how concerned I should be, or if I need to restrict him from doing anything.  He is such an active kid, and it is impossible for him to stay still.

I don’t know what it means for his aorta to be enlarged like this at his age.  I have searched the web but I really can’t find a lot of information about children with BAV.  I am just trying to find out everything I can so I have a better understanding of how to help my son.  If there is any information you can give me I would greatly appreciate it."

Tears for Our Children, Our Loved Ones

I understand this Mother's tears. Those of us who volunteer with the Bicuspid Aortic Foundation have heard this too many times and have experienced it in our own families.

It is hard to take in adults, unbearable in a child, to go from "no big deal" to a bulging aorta with an unknown growth rate, to be told to watch for "chest pain"!

BAV May Be a Very "Big Deal" 

We all desperately want to believe that it truly will be "no big deal" in us. That we will go our whole lives without any issues. Yes, some people do.

No one can promise that to someone with BAV. 

Time reveals what BAV means in each person.

. 

What we need to know is what happens in some people with BAV:

• at some time in their lives, the BAV may leak, narrow, or both and need some kind of repair or replacement

• BAVers are at greater risk for infection of the heart and BAV 

• the aorta above the BAV may bulge (dilate) and over time become an aneurysm

We need to hear that we need lifelong follow up care, and that keeping copies of our records will help the doctors we see, who will care for us over many years. This way we give ourselves the best possible life, as knowledge and treatment get even better than today!

This Mom has excellent questions. The Foundation has tried to help her start learning about BAV. There are some physicians and centers that write about their experience with BAV children. We wish there were more who seek to better understand and care for children with BAV.

Here we share one such program for BAV children in Chicago that shares information with the public:   Children's Hospital of Chicago BAV Program .

Here is a page of medical information about children on the BAF website: BAV in Children .

And here are the stories of two little boys born with BAV: Emerson and Lincoln .

Our children

 deserve much more than

"it's no big deal",

much more than 

 being sent away for five years.

Together, we can share information

to help our children and 

their entire families.

Yes, together we are

Creating a Climate of Hope.

          - Arlys Velebir

                                     Bicuspid Aortic Foundation

Carrie in 2016 - Seeking Opinions for a Complex Situation

Carrie Running with Shadow and Stella
Spring 2014

For many with BAV, years may go by with seemingly little or no change. But at some point, it is realized that something was indeed changing inside. It was just that no one, not that person, not their doctors, could detect it. Until one day, whatever was happening can finally be seen. And so it has been for Carrie Mettler.

Carrie in 2014

Carrie first shared her BAV journey with the world here, Carrie Mettler - A Wonderful Athlete with BAV . Beginning with her athletic high school days, through the implantation of a pacemaker in her late 20's, discovery of her BAV and aortic aneurysm, and then her brain aneurysm in late 2003, we read of her amazing triumphs. For the next 10 years after her brain aneurysm surgery in early 2004, Carrie faithfully kept her follow up appointments.  And then it was 2014.

Time for a New Pacemaker

In 2014 Carrie needed to have her pacemaker replaced.  It was decided at that time to upgrade from a single chamber device to a dual chamber model.  They moved the pacemaker from the right side to the left side of her chest, then added two new leads, cutting and capping the old atrial lead.

Carrie tried to resume her normal activity and had difficulty exercising.  It then became difficult for her to even lie flat or bend over.  She felt as if she was being held upside down.  There was obvious neck vein distension along with some facial swelling.  Carrie was sent for a cardiac catheterization, where it was determined that her Superior Vena Cava (SVC) was almost completely blocked.

Carrie Proudly Displaying Ribbons at a Splash Dogs Event
A bulging vein on the left side of her neck is clearly visible.

Carrie underwent surgery to reconstruct her SVC along with the right atrium.  Carrie did remarkably well and was active just 3 weeks post op, walking long distances with her dogs and then running once again a short time later. 

Carrie's Aortic Aneurysm

Then it was time for her next aortic checkup, a routine echocardiogram.  The echo indicted that her aortic aneurysm had enlarged.  Why now, after so many years of being stable? Changes in aortic aneurysms can be unpredictable, which is why it is so important to faithfully keep imaging appointments. 

Could it be due to the increased blood flow after her SVC was repaired?  The surgeon said that the thrombosis and scarring on the lead had been  blocking blood flow for some time. Adding the additional leads caused near complete blockage, giving her the symptoms of Superior Vena Cava Syndrome.  Once this was repaired the blood flow is likely more forceful.

After many years of low blood pressure, Carrie has also had bouts of high blood pressure that have been difficult to control with medication. Could this high pressure also be contributing to a dilating aorta?

Carrie has had some episodes of chest, back and neck discomfort with and without exertion. It is very important to understand what is happening inside.

Carrie in 2016

Carrie, outwardly glowing with health and vitality, is very complex inside. With the encouragement of doctors who have followed her through the years, she is now arranging review of her records by physicians at the Cleveland Clinic. 

Thank you, dear Carrie,

 for sharing your journey with us.

Here at the Bicuspid Aortic Foundation,

 we promise to share each step with you,

 and surround you with a Climate of Hope.

- Arlys Velebir

                         Bicuspid Aortic Foundation

Sharing Courage

A few times, I have wondered who was more afraid, my husband and I or the people, the medical professionals, we met along the way in his journey with BAV.

I wrote the verses below after my husband's aneurysm surgery. Recently I dusted them off.

He was in the hospital on a heparin drip before that surgery, because he had a prosthetic mechanical valve and had to be weaned from warfarin. I remember very well one doctor who visited his room the night before surgery. We were feeling at peace, looking forward to soon being aneurysm free! We both remember one part of the conversation with that doctor very well. He crossed his fingers on both hands and said "of course, anything can happen." Well, we did not catch his fear, but we were in a tough spot, pretty well trapped by signed legal papers and that heparin drip, if we had panicked. He was a medical doctor, not a surgeon. Today, I remember this doctor with compassion and have always hoped he will never need aneurysm surgery himself. If he does, maybe he will remember the many excellent results from surgeries like my husband's and take courage.

A nurse said the words "time bomb" to me during my husband's surgery that day. Somehow meant to console me, an acknowledgement that there was no choice, those words were jarring to my own heart. We were not in denial. We knew why he needed the surgery he was having that day. We had waited, since we found out it was there, for this day when it would be removed. 

Since then, I have spoken with many people about their aneurysms and upcoming surgeries. I have had people ask me, some whom I have never met in person, if they are going to make it.

I have never once spoken about time bombs. I have never crossed my fingers in front of those I meet. I have met them with a smile, not because I do not know how serious it is, but because we are in this fight to win. No one should face surgery already feeling defeated. 

I understand now, years later, that aneurysm of the aorta in the chest can strike medical professionals with fear also. Even when it is not an emergency. And very much more so, when it is.

The lines below are a call for courage in the face of this tough opponent, aortic disease in the chest. I have learned that not just aneurysms, but valves, and infection, may be challenging too. My husband has had three surgeries, and the two involving his valve, for different reasons each time, were difficult, risky.

It has been said that courage is not the absence of fear. It is taking action in spite of fear.  Please, share your courage, not your fear.

This little poem is meant to speak for the person having the surgery. It is meant for everyone who knows or will meet someone facing that surgery, for an aneurysm or some other complications of aortic disease in their chest.

  Sharing Courage

Please don’t tell me I have a time bomb in my chest

Don’t let me see fear in your eyes.

I cannot forget, yes, I know it is there,

This terror within, in disguise.

Please tell me the best is all there for me,

Share your strength, understanding, and care.

With your help and support I’m reminded

This terror within, I can bear.

Please tell me the wonders of surgery,

Tell of the many it’s saved.

Many days I have lived with this enemy,

This terror within, I have braved.

Please tell me together we’ll do this,

Remind me today is a great day.

No match for the hands of the surgeon,

This terror within cannot stay.

Please tell me you’re there for my family,

Share your courage, assure them it’s true.

Waiting now, soon they’ll see and touch me again,

This terror within hurts them too.

Please tell me that soon it can’t hurt me,

Smile and tell me again that we’ll win.

And when I awake, all new inside,

No more terror, my healing begins.

              - Arlys Velebir

Please give yourself time whenever you need it, time when you can cry, seek comfort, and renew your own courage. Then go out again to share your courage with others.

Courage is always,

an important ingredient

When Creating a Climate of Hope.

Best wishes,

Arlys Velebir