Alex’s story is a common one told by parents of children with genetic disorders. It took years of treating a variety of seemingly unrelated medical issues, all the while raising questions to the revolving door of specialists and experts, before finally arriving at the diagnosis – Loeys-Dietz syndrome – that would change their world forever, but would finally empower them with information they would need to seek out proper treatment.
Here is Alex’s Story as told by his mother, Beth.
At age five, genetic testing confirmed that Alex had Loeys-Dietz syndrome. The year was 2006; just months after Dr. Hal Dietz and Dr. Bart Loeys described this new connective tissue disorder. The diagnosis was bittersweet, and I still describe it to families learning of the syndrome as such, because at the time we wanted so badly to know what the underlying cause of so many things “gone wrong” with Alex’s health was. Yet, we feared the “unknown” – what the Loeys-Dietz diagnosis really meant – and whether we were ready to face the challenges, and even more, to watch our son live with them.
Alex was born seemingly healthy. He weighed 9 pounds 8½ oz. He seemed very flexible and “floppy.” He had a recessive and small chin, which my husband, a dentist, referred to as “micrognathia” and “retrognathia.” He noted that he would probably require jaw surgery like my father had. Alex had long fingers. He had trouble nursing. We took several trips to several different pediatric orthopedic surgeons, who continued to reassure us that his turne-in feet and “floppy” features would correct, and that if I still remained discontent, to return. Alex developed fairly normally but was late in sitting up, walking, and even talking. He required speech therapy and also had nummular eczema.
At the age of four, Alex developed an inguinal hernia. I immediately began to research online ‘hernias in children’ and came across many different syndromes and disorders linked to hernias. I was consumed with finding information online and was seeking desperately to find the missing piece. In a visit to the orthodontist, she and my husband discussed Pierre Robin Sequence, which are a series of characteristics, including wide-spaced sunken eyes, retro and micrognathia, and is linked to many different syndromes. Nothing more was really explored with that, though I still had that piece in the back of my mind. I was reminded that I too have big eyes. Again, excuses, fixes, excuses.
Fast forward to 2005, when Alex was scheduled for his first inguinal hernia surgery. The doctor checking him before his surgery said, “He has Pierre Robin Syndrome?” I had a lump in my throat. I was about to send my baby into surgery, and for the first time, a medical professional had mentioned out loud a recognized difference; someone besides myself, husband, or friend. I was again reassured that there was nothing to worry about. Hernias in children did occur without a “syndrome” I was told.
The inguinal hernia repair failed. I immediately began to search the Web, including the words “children” and “recurring hernias.” Many connective tissue disorders appeared, including Shprintzen Goldberg, Ehlers Danlos, and Marfan Syndrome. I began to print these off and shared them with my husband. He couldn’t understand why I needed a label. He thought that we could continue to “fix” what went “wrong.” I began to list the many reasons, most importantly, possible heart problems, which was my concern when Alex went in for his hernia repair.
Around the same time of the hernia recurring, Alex was being reevaluated for speech at a local university. I expressed my concerns for reevaluating at a different facility, and that I felt there was more to Alex, and I just couldn’t seem to find answers. There were all these pieces that, together, still didn’t make sense. At the conclusion of the evaluation, they recommended Alex see a craniofacial specialist. I felt as though I had been hit in the stomach, though for the first time, there it was in black and white. I went home and discussed the results with my husband and encouraged him to speak with our family physician about seeing a geneticist.
Finally my husband and I were on the same page. Within weeks we were able to get into the geneticist. After listening to his heart, they discovered a heart murmur. I felt I was slowly melting into my chair. Exactly what I had feared in all the research I had done was beginning to unfold before my very eyes. What little bit of information I had found on the various connective tissue disorders, I knew that this was only the beginning. My husband tried reassuring me that many people have heart murmurs, and perhaps it was nothing. Then, the geneticist extensively measured his arm span, his long and skinny fingers, his head, and wide-spaced eyes. He looked at his velvety skin, his spine, and his scars from his hernias. He looked at his flat feet, and his long, skinny toes. When I thought that evaluating was over, he began to look at myself and my husband. This was so difficult. The most difficult part; we had four other children at home. Were they going to have to be evaluated as well? What did this diagnosis, whatever it was to be, really going to mean for our family?
Since a heart murmur was detected, an echocardiogram was ordered. I called two days after the test to find out who would be calling me to follow up with results. The receptionist set a date for us to come in to discuss the results, but as we talked, the geneticist requested to speak with me. He had the results of the echocardiogram and wanted to talk with me. They found an enlarged aorta, and many measurements of his heart were beyond normal limits. We were scheduled to see a cardiologist and the geneticist again.
The cardiologist said that we were treating Alex as though he had Marfan syndrome, and immediately put him on Atenelol, a beta-blocker. He said that when/if he required surgery to remove the aneurysm, he would be referred to Johns Hopkins. We then saw the geneticist that was going to test for Marfan 1 and Marfan 2 as it was referred to at the time.
One month later we received a call from the genetic counselor that Alex had the gene change for Loeys-Dietz syndrome. I asked how this would change our treatment options. She said, “It won’t. We will treat it as though he has Marfan Syndrome.” What little information I did find, I knew that Loeys-Dietz syndrome was much more aggressive, and most importantly, aortic aneurysms were being found to dissect at smaller dimensions than in people with Marfan syndrome. I knew we had to be in touch with Dr. Dietz, whose directory page on the Johns Hopkins site was the home of several small paragraphs pertaining to this new disorder called Loeys-Dietz.
My husband and I began to draft an email to Dr. Dietz. After finding his phone number online, I showed it to my husband, and he said, “Give it to me!” He dialed the phone, and after speaking just moments to the secretary, soon found that he was talking to Dr. Dietz. He explained that he was booked 8 months out, but that he would see us as soon as we could get there. He recommended full body (head to pelvis) CT imaging and an echocardiogram be performed. He said to schedule with his genetic counselor, Gretchen, and within weeks we were in Dr. Dietz’s office. Just one month after that, Alex had valve-sparing aortic root replacement to remove the aneurysm in his aorta that was greater than 3 times the standard deviation.
Alex continues to have yearly CT scans and/or angiograms, as well as echocardiograms to monitor not only his heart health, but to identify/assess other aneurysms. He has also had other hernia repairs, and allergy issues including eczema.
My husband, our five girls and I have tested negative for the mutation, and Alex’s mutation/gene change is considered to be a sporadic mutation. Shortly after, I started the Loeys-Dietz Syndrome Foundation (LDSF) with genetic counselor, Gretchen Oswald, to promote awareness, education and research. I continue to be encouraged by the growing number of families that are impacted from LDS, and look to them, as well as Alex for strength and courage.
I continue to be amazed by the good in so many people. The LDSF has collaborated on events and projects with The Marfan Foundation, and looks forward to similar relationships with other connective tissue disorder and related organizations – Including those involved with the TAD Coalition – to continue to raise awareness, education, and research for preventing thoracic aortic aneurysms.
Together, we can take heart, encourage education, foster research, and provide support.
Steve had never heard of Marfan syndrome until one fateful day in April of 1996, when emergency surgery saved his life because an astute intern in a NYC ER recognized the characteristics of Marfan syndrome and made a timely diagnosis. This is Steve’s story, in his own words.
My introduction to Marfan syndrome
April 18, 1996 started out as a rather nice day. It was a Thursday, eight days after my 25th birthday, the weather was sunny and warm, and life was pretty good. I worked for Transitional Services for New York, Inc., a private mental health agency in Queens, and my coworkers took me out to lunch for my birthday after a couple of very hectic weeks. We returned to the office at about 1:30. I sat at my desk to resume work and that’s the last thing I remember about that day.
I am told that the rest of the day proceeded this way: A couple of us at the office had a craving for some ice cream, so we went to Baskin & Robbins, got some Cappuccino Blasts’ and went back to the office. I worked until about 5:15pm and went home. There I waited for my friend Diane with whom I was to have dinner. She came over and boy did she get a surprise.
At about 6:15pm I started to feel light headed which soon escalated to extreme dizziness and disorientation. I also started to feel cold and shaky. I felt a hollow, empty feeling inside which turned to nausea. I started to feel pain deep within my chest and neck. My vision was blurry and I couldn’t remain on my feet. I asked Diane to call 911 because I though I was having a heart attack. The hollow feeling in the pit of my stomach grew, as did the tightness within my chest.
The ambulance arrived with paramedics from NYC’s EMS. I knew one of them, Gigi, through my volunteer work as an EMT in the Queens Village Hollis Bellerose Volunteer Ambulance Corps. Gigi ran through her primary assessment of me and quickly determined that I was losing blood internally, fast. She had no idea from where though because there were no obvious areas of distention, swelling or bruising. I was, however, losing all color in my face and was becoming extremely pale. My disorientation persisted and became worse. All Gigi knew was that they had to get fluids into me and get me to an Emergency Room as quickly as possible.
Along the way to the hospital I began gagging and was becoming incoherent. By the time we got to Long Island Jewish Medical Center I was choking, gasping for air. I started coughing up fluid, about a gallon in total, all from my lungs. I was drowning in my own blood. They knew I was bleeding into my thoracic (chest) cavity but had no idea why. My lungs collapsed and I lost any semblance of consciousness I may have had. Still, no one had any idea what was going on.
A cardiology intern was called upon to consult. He took one look at me – 6’6”, thin, pectus carinatum, in severe respiratory and cardiac distress – and fortunately suspected Marfan Syndrome. I was sent for a CT Scan, X-Rays which showed I had suffered from a rupture of an ascending aortic aneurysm, which was dilated about 10cm, and my aortic heart valve had been stretched out and was completely useless. All my blood was being pumped right out my heart and into my chest.
The ER staff immediately summoned Dr. L. Michael Graver, Chief of Cardiothoracic Surgery, who actually had his jacket on and was leaving the building to go home. He ordered that both of their Operating Rooms had to be cleared because I was top priority and he needed both OR teams to work on me.
My friend Diane contacted my family. In a panic they rushed to the hospital as quickly as they could. Dr. Gary Friedman, cardiologist, and my surgeon explained to my family that all that could be done was being done to try to save my life. The blunt truth, however, was that I was given no more than a 10% chance of survival. The aortic rupture encompassed my entire ascending aorta, about 6 inches worth, and I was deprived of adequate blood circulation for some time. The collapse of my lungs also cut off my intake of oxygen.
My surgery lasted about 7 long and grueling hours. I was placed on a heart-lung machine, my thoracic cavity was drained, my blood was filtered and put back in me, my heart was repaired and when it was all said and done, I had an ascending aorta grafted with Dacron and a new St. Jude Medical aortic heart valve. But I was still not given much of a chance to survive.
And now back to what I do remember: Eighteen hours after surgery I opened my eyes. I saw my dad standing across from me. I felt like I had the worst hangover known to man. I was hooked up to lot of different catheters and tubes. I was heavily medicated and thoroughly confused. But I was alive.
And I have managed to stay alive ever since. There has been a lot to get used to with Marfan’s syndrome (heart medications, the clicking of a mechanical heart valve, an adjusted lifestyle, and the inevitability of more surgery), but words can not describe how lucky I feel to still be alive.
Since then I’ve had 5 more surgeries to repair/replace my descending and abdominal aorta, a pseudo-aneurysm repair and 2 hernia repair surgeries. I’ve had endocarditis and a few run-ins with high Coumadin levels. But I’ve also gotten a Master’s Degree in Social Work, a job in the home care industry making a difference in people’s lives everyday, a beautiful wife who’s there for me and supports me and we have a great home.
Life just keeps moving forward and my ability to keep going is because of all the love and support of my friends and family. I give myself no choice but to look forward. I try to make the most of what I have and the people I have in my life. People often tell me that my survival is a gift, or that I’ve been kept alive for a reason – to fulfill some purpose. I have no idea what my purpose is, but I try in some way, everyday, to help enrich the lives of others, or at least brighten someone’s day.
On the night of September 11, 2003, my husband John Ritter lost his life to an aortic dissection. He died in the hospital while being mistakenly treated for heart attack.
The intensity of the sadness and grief that overwhelmed our family is imaginable only to those of us who have lived through such a devastating upheaval. As the initial shock of our loss faded and the reality of what had happened set in, I realized that part of the confusion of this ordeal came from our hazy understanding, at the time, of what exactly an aortic dissection was.
I educated my family and myself about aortic aneurysm and dissection by reaching out to clinicians, surgeons, scientists, patient survivors and family members of victims. Every day since having my own consciousness raised I have endeavored to pass on information in ways large and small to the public regarding this disease. I started the John Ritter Foundation for Aortic Health to raise public and professional awareness through research and education. The goal is to simultaneously enlighten the general public while promoting an open exchange of information sharing at the highest levels of cardio-thoracic expertise. In John’s name, the foundation will create an informative and understandable environment that encourages and supports participation in one’s own aortic health.
— Amy Yasbeck [Learn about Family Aortic Aneurysm]
Letter from Tom Ritter
Although John was my little brother, because of my cerebral palsy, in many ways he became my big brother. From childhood on he was always there for me. When I stumbled he was there to help me up. When I became frustrated with myself because of my disability, through his gift of laughter I found strength. He cheered me on a supported me in my day-to-day life and in my ongoing struggle with cerebral palsy. Together, we took on the task of raising public awareness of the condition.
Year after year, through The United Cerebral Palsy Telethon we raised money for research and support for children and adults living with CP. John tirelessly took on this cause because he truly believed that the public platform that his fans and his profession had so graciously afforded him could be used to improve the quality of peoples’ lives. He was right. More than four years after we lost him, the Cerebral Palsy Community still feels the positive affect he had on our cause.
John will have the same, if not greater, affect on the community of those who have survived or have lost someone to Aortic Aneurysm or Dissection.
Last year I found that I had an aneurysm in my aorta and I was at risk of an aortic dissection, the same condition that my brother had. The doctors also think my father Tex may have had this same condition when he passed away.
Although numb, my wife Pam and I went forward seeking second opinions and were directed to Dr. Craig Miller from Stanford University. I had surgery at Stanford on December 21st. Through aortic replacement surgery, I have been assured of not having an aortic dissection and will hopefully enjoy a long life. It was painful for me to learn that Dr. Miller has been doing this procedure for 14 years. It was painful, because John has been gone for only four years, and I believe that proper diagnosis could have made the difference and John would be here with us today.
Although, I am still recuperating, I think that it is important for all of you to know more about this condition and its diagnosis (often misdiagnosis). I also am very grateful to my sister-in-law, Amy Yasbeck, whose passion and encouragement resulted in me not accepting the status quo. In fact, Amy’s perseverance ultimately may have meant “life over death” for me.
Please speak to your doctor at your next check up about aortic aneurysm. If you have a relative that has survived or succumbed to and aneurysm or dissection you risk is much higher. Let your doctor know this. Tell John and my story and save your own life or save the life of someone irreplaceable to you.
– Tom Ritter
Robert F. Epps, a retired Coast Guard Senior Chief residing in Virginia, became aware of his existing heart murmur when he enlisted. What was repeatedly diagnosed as a minor, benign ailment became a serious dilemma likely to turn into a life-threatening aortic aneurysm. The experience, requiring three surgeries to reconstruct his diseased aorta, served as the catalyst for Epps to establish the National Organization for Aneurysm Hope (N.O.A.H.), an organization dedicated to raising aneurysm awareness and providing hope for those affected.
[Learn about Familial Aortic Aneurysm]
Allison Dunvegan Reed, 23, was brought to a suburban Detroit emergency room, with sudden and severe mid-back pain, writhing and vomiting. She was unusually tall and thin at 6 feet, 170 pounds; the lower portion of her body disproportionately long; her armspan exceeding her height; with extreme myopia; a high, arched palate; a long face; extremely flexible joints; long, flat feet; long fingers and toes, and pectus excavatum. She was diagnosed with a stomach flu and sent home to rest with plenty of fluids. Fours day later, on November 1, 1994, she died of pericardial tamponade when her dissecting aortic aneurysm ran its course. She had undiagnosed Marfan syndrome.
People with Marfan syndrome are at significant risk for aortic aneurysm and dissection, up to 250 times greater risk than the general population. Without proper monitoring and medications to reduce stress, the aorta could tear, resulting in sudden death as with Allison. Her life might have been saved if an echocardiogram, CT scan or MRI had been done to rule out aortic dissection, often felt as throat, chest, jaw, head or back pain. Surgery to replace the damaged section of her aorta could have given Allison a normal lifespan.
Following her death, Allison’s mother, Judith, was diagnosed with Marfan syndrome. Judith has made it her mission to raise awareness of Marfan syndrome and aortic dissection. Over the years, she has visited many Detroit-area emergency rooms with her message with the hope of saving the lives of others.
In 2011, Daniel Moyer passed away at the age of 30 of vascular complications associated with the diagnosis of Loeys-Dietz syndrome. After undergoing initial aortic root repair at a young age, he experienced an aortic dissection at 17 years of age in the ungrafted portion of the aorta. Subsequently, he had undergone multiple surgical interventions for aneurysms throughout the arterial tree. Daniel was a passionate advocate for appropriate healthcare and rehabilitation services for those impacted by aortic aneurysms.
Here is Daniel’s story, in his own words, as shared before his passing.
The first signs of Loeys-Dietz syndrome (LDS) were the hernias I had when I was 3 weeks old and 5 months old. Then when I was 6 years old I had a surgical repair of my pectus excavatum. It was noted during this surgery that my joints were very flexible (hypermobility) as I laid on the operating table. This had the surgeon question if I had Marfan Syndrome and encouraged further examination.
A slit lamp ophthalmological exam was performed to determine if I had dislocated lenses, a common feature of Marfan syndrome, however it was found that I had no ocular issues so I was not diagnosed. Then when I was 7 years old I had my fourth hernia and by that time my mother was the one who finally convinced my pediatrician that I should be formally checked for Marfan syndrome.
So in February of 1989 I had an examination at Johns Hopkins Hospital by Dr. Victor McKusick. After the examination and an echocardiogram it was determined that I met the criteria for Marfan syndrome and since LDS was not discovered yet, I was formally diagnosed with the best diagnosis of the time. Initial treatment involved medication, limits on physical activity and regular echocardiograms and MRI testing.
By the age of 9 my aortic root had expanded to 5 cm with associated aortic valve insufficiency and I was experiencing chest pain. So I underwent an aortic root replacement with a composite valve graft. From age 9 to 17 my health was fairly stable and I stayed out of the operating room. However, with hypermobility I was prone to sprains, dislocations, and broken bones. I was also followed for scoliosis during my teen years, although no intervention was needed.
Then at the age of 17, I presented to my school nurse with radiating pain in my abdomen. The pain was the result of an acute dissection of the ungrafted portion of my aorta. Emergency surgery involved graft replacement of the distal ascending aorta and transverse aortic arch, which prevented aortic rupture. Over the next 10 years I underwent 7 more cardiovascular procedures to treat rapidly progressive aneurysms, dissection and tortuous vascular disease involving the aortic root and arch, thoracoabdominal aorta, and the brachiocephalic, vertebral, left internal carotid, internal thoracic, iliac, and superior mesenteric arteries.
In 2006 my surgical team in Houston questioned my diagnosis of Marfan syndrome and felt that the newly discovered Loeys-Dietz syndrome was a more accurate diagnosis. Through genetic testing it was confirmed that I had Loeys-Dietz syndrome.
Patty Peterson was born into the renowned Peterson family, Minnesota’s First Family of Jazz. She is an award-winning singer and has moved her love of audiences into becoming a radio personality in the Twin Cities. However, there was a time three years ago when this acclaimed vocalist could barely listen to music, much less sing. That was after a life-threatening cardiovascular event, an aortic dissection.
It happened on February 12, 2007. After a busy day of volunteering at her son’s school, taking a Pilates class, doing a rehearsal and a recording session, Patty was driving down the freeway in Minneapolis when she suddenly felt a ‘burst’ in her chest. “Not a twinge – more like a dagger in my heart,” she said. She was able to pull over to the side of the road and call 911 for assistance. An ambulance arrived within minutes and rushed her to Abbott Northwestern Hospital. In less than an hour, doctors quickly ruled out a heart attack and determined she had an acute aortic dissection. This is the same condition that took the life of John Ritter.
Now Patty is telling her story and bringing awareness to this deadly disease called aortic dissection. She lives with a mechanical valve and a partial mesh aorta and will live with aortic disease for the rest of her life. This has not stopped her! She is presently writing a book about her life story entitled “Live Your Gift.” It not only talks about her musical career and family, but also her experience with aortic dissection, and her intense recovery, including learning how to sing again. Patty also reminds us in her talks, in her book, and by her example that we are here to do one thing in life, and that is to “Live Our Gifts.” It’s just that simple.
Patty Peterson is the recipient of the 2009 American Heart and Stroke Hero Award in the Survivor Category for her work in raising awareness for Heart and Aortic Disease.
For more information on Patty Peterson, visit www.pattypeterson.com.
[Learn about Familial Aortic Aneurysm]
In October 2008, at 28 years of age, Melissa experienced an aortic dissection while 35 weeks pregnant with her first child. After emergency surgery, she underwent two other surgeries that year for further repair of other aortic aneurysms. During this time period, she was diagnosed with Loeys-Dietz syndrome.
Here is Melissa’s story, in her own words.
On October 19, 2008 I survived a Type I aortic dissection. I was thirty – five weeks pregnant with our first child, a little boy, and had been hospitalized for high blood pressure just two days before. That Sunday morning felt like any other morning. Besides being very pregnant and in the hospital on bed rest, I felt just fine. With no hesitation, I stepped into the tub to take a hot shower. I leaned my head back and into the stream of water. Then, suddenly, a pain hit me. It wasn’t in my chest, as I certainly would have expected it to be, but in my teeth. Everything went black for a second, and I remember thinking that my teeth were going to crack into a million pieces. I felt too hot and faint. My jaw tightened and then I felt like I couldn’t breathe. I grabbed onto the side of the tub and screamed my husband’s name.
I had no idea what was wrong with me, but I did insist to my husband, the nurse, and then the doctor, that something was indeed wrong. Doctors decided to deliver the baby via an emergency C – section. Our seven pound beautiful little boy was born just minutes later. I was elated but still felt “like a bulldozer was sitting on my chest.” Chest X-rays came back clean, but finally, a CT scan revealed the huge dissection, originating in the ascending aorta and extending to beyond my kidneys. I kissed my little boy goodbye and was loaded onto a helicopter bound for the nearest trauma center and my second surgery of the day.
That moment was the hardest moment of my life, and the weeks that followed were some of the most difficult I’ve ever experienced as complications continued to arise. I was completely overjoyed when I finally returned home six weeks later. Doctors suspected that I may have a connective tissue disorder, and I was officially diagnosed with Loeys-Dietz Syndrome in May 2009. My geneticist called me at my home and in her strong Turkish accent told me that my Loeys-Dietz test came back positive. “Now, it all makes sense,” I thought to myself: “The pectus excavatum I was born with, the hypermobile joints, and the dissection.”
In June ’09, just nine months after my dissection, a follow – up CT scan revealed a 6.2 cm aneurysm near the top of my descending aorta. Only the ascending aorta had been repaired during my first surgery and now the entire aorta, weak and dissected, needed to be replaced. Dr. Chad Hughes of Duke University Medical Center replaced my entire descending aorta in July 2009. The thoraco-abdominal incision begins near the top of my left shoulder blade and wraps underneath my arm, around my rib cage, and down into my lower abdomen. That surgery was, by far, the most painful thing I’ve ever lived through. I recovered for only three months, and then on October 22 of the same year underwent my third surgery: a valve – sparing root replacement and aortic debranching procedure, which prepared my aortic arch for a less invasive stent.
Now, after three surgeries in just one year, I am home and awaiting that final stent procedure. I spend my days making up for lost time with my son, Nathanael, who is now just over one year old and thriving. I could never have made it through this without the help of my family. I have learned that life is the here and now. It is in my son’s eyes when he awakes in the morning and in my husband’s when we kiss goodnight. Life is what is beautiful. I know that now.
At 29, Adam Carabajal (pictured with son Kaven) of Garden City, Kansas, was an active, athletic husband and father of two when he died of a thoracic aortic dissection on July 19, 2009. Jade, his wife, explains, “Never in a million years would I think this could happen. Adam was one of the healthiest people I knew.”
Jade remembers that on the night her husband died, they were enjoying an evening out with friends until suddenly Adam started saying something was terribly wrong. He felt ill and needed to go home. Because Adam was complaining of a burning sensation in his throat and upper chest area, they first assumed Adam had indigestion. His condition worsened throughout the night, and after Adam become increasingly clammy, sweaty and nauseated, the couple went to the hospital.
Emergency room tests showed that Adam’s heart rate was up, his blood pressure low and dropping. An X-ray revealed nothing unusual, but EKG results prompted the doctor on duty to repeat the test and request a cardiologist. Adam’s condition quickly deteriorated. He went into shock, was intubated and then transferred to a heart hospital where more tests were run to identify the problem.
It was only when doctors decided to perform a heart catheterization that the real problem was discovered: a tear in the ascending aorta to the carotid arteries.
“I remember the doctors telling me that Adam had a big tear in his aorta, and the chances of him making it were very slim,” Jade says. “Then the news came that he was gone.”
Jade describes Adam as “an awesome husband and daddy, and a great man who was truly loved by many. He made an impression on everyone he met.” She was deeply moved by the outpouring of support, with more than 700 people attending his funeral.
After Adam’s death, Jade researched thoracic aortic disease. Because of the genetic component, genetic testing was vital for her two children, Adam’s parents and siblings. Adam and Jade’s two-year-old son, as well as Adam’s father, have enlarged aortas that are being monitored, and further genetic and connective tissue testing is planned for members of Adam’s family. [Read about Familial Thoracic Aortic Aneurysms and Dissections]
Jade, a respiratory therapist, is committed to making more people aware of thoracic aortic dissection. “If it can happen to us, it can happen to anyone,” she explains, “and as a medical professional myself, I want to tell our story if it might save another person’s loved one and educate the health care providers who can help prevent this from happening to someone else.”
In January 1996, in the few days before the final dress rehearsal of RENT, Larson visited the emergency departments at two different hospitals complaining of excruciating chest pain. One sent him home with a diagnosis of food poisoning; the second diagnosed a mild case of flu. In the middle of the night, without the emergency surgery that could have saved his life, Jonathan died alone in his New York City apartment. It was ten days before his 36th birthday.
The cause of the chest pain, and Jonathan’s death, turned out to be an aortic dissection, a tear in the large artery near the heart. Only after his death did Jonathan’s family and friends learn that his tall, lanky frame, indented chest bone, flat feet, long fingers and toes, and flexible joints should have led doctors to a possible Marfan syndrome diagnosis, which would have indicated a need for additional testing and immediate surgery. The survival rate for emergency surgery to repair a torn aorta is higher than 90 percent.
“We cannot bring back Jonathan, but it’s not too late for others,” said Al Larson, father of the Tony Award and Pulitzer Prize winning playwright. “Many people have told us that RENT changed their lives. For those who now become aware of Marfan syndrome and receive proper medical care as a result, the show can truly be life-saving.”
Watch a public service announcement about Jonathan Larson and Marfan syndrome
Quentin is an 11 year-old boy with a huge heart for supporting other children with aortic aneurysms. His many medical challenges during his first years of life included progressive aortic enlargement, for which he required valve-sparing aortic root replacement surgery at 8 years of age. After many years of not having a genetic diagnosis, the discovery that Quentin had Loeys-Dietz syndrome gave his physicians guidance about the urgent necessity of cardiac surgery.
Quentin’s story, as told by his mother Sheila
Our story begins the evening of April 20, 1998 in Columbus, Ohio. Quentin Paul Waid was our third son and the doctors were sure that Quentin was healthy and would be going home with me from the hospital. Quentin entered the world and I was blessed to hold him for a few minutes before a concerned doctor took him away. He had a very large bulge in his lower abdomen and was turning a very worrisome shade of blue.
Later, that night I was able to visit him in the NICU and this kind doctor approached me and proceeded to go over a list of things wrong with Quentin. The list began with, extremely floppy, very long fingers, slanted this or that, transparent skin, blue sclera, split uvula, kyphosis, recessed chin, extra ribs and vertebrae, and on and on and on. He proceeded to tell me that a genetic doctor would be in first thing in the morning to talk to us about a syndrome that he felt our son had. We would also be talking with a surgeon to fix his bulge, which was a double inguinal hernia and a hole in his diaphragm. So we saw a geneticist and would continue to see a genetics doctor for the next 7 years until we would finally reach a diagnosis for Quentin.
About the time Quentin was 5 years old, our cardiologist told us that his aortic root was too big and was continuing to grow despite the medicine he was taking. He said it could rupture at anytime and it could be fatal, but that he could not do surgery to fix it – Quentin was too young. I found this to be very hard to understand. The fact that something was wrong with my son that could be fatal, but the doctors could not fix it! The cardiologist continued to monitor Q with an echo every 3 months, but the news did not seem to get better. The medicine the doctor was trying to treat him with made Quentin’s’s asthma worse and so we switched medicine finally, but the aortic root seemed to still grow.
Quentin continued to enjoy being a kid and loving horseback riding, cooking, swimming, and watching his brothers play basketball, while mom tried to find a doctor who could give us the diagnosis that would answer our questions.
First grade and the beginning of second grade brought more surgeries: spleenectomy, more hernias, and sinus surgeries. Then came the appointment with the cardiologist again – telling me that he just didn’t know where else to send me with Quentin, and surgery was not an option at this point, but that yes, the aortic root could indeed rupture. What kept going through my mind was that “Quentin could not be the only child out there with these symptoms! It’s just that the doctor who knows what was wrong with him didn’t know we were here, living in Florida and that I MUST find that doctor who knows what’s going on because he or she will not know to find us!!”
I must have e-mailed 75 doctors around the country that day. Then came a voice at the other end of the telephone: “I’m Dr. Hal Dietz from Johns Hopkins and I believe I know what is wrong with your son.” He proceeded to tell me about Loeys Dietz Syndrome and some of its characteristics. Genetic testing confirmed the diagnosis. Along with our team of physicians and knowledge about the risk of aortic dissection at young ages and small dimensions in Loeys-Dietz syndrome, Quentin underwent valve-sparing aortic root replacement in 2006.
Although it was difficult being away from Florida friends and family while Quentin had surgery and was recovering in Baltimore, Quentin was a champ and made many friends in the hospital. There are many additional challenges that come along with the diagnosis of Loeys-Dietz syndrome, including the risk of aneurysms and dissections in other parts of the aorta or arteries; however, we face Quentin’s medical issues as they come and as a team. The greatest gift of the diagnosis is that Quentin now has other kids to talk to who understand his experiences and frustrations, too. I just love when he tells me he’s texting a friend he’s met with LDS or e-mailing a friend who he has met not just in another state but in another country.
Tyler Kahle was just 19 when he died Oct. 7, 2002, of an undetected rupture inside his chest, a tearing of the aorta called thoracic aortic dissection. At the time, Tyler’s care providers believed he was too young for this to occur. What Nebraska Methodist Health System learned from Tyler’s death, including what other health care institutions can do to prevent a similar tragedy, is the subject of the video “Aortic Dissection at Any Age: The Tyler Kahle Story.” Watch the video below.
The video, produced by Nebraska Methodist Health System in cooperation with Tyler’s family, is designed to raise public awareness about familial aortic disease and educate medical professionals. Through the video, Methodist shares lessons learned from Tyler’s death — lessons that are saving lives.
Family photo albums show Tyler as a boy in constant motion, a young man in love with life. Always a daredevil, Tyler grew up cannon-balling off high dives, shimmying up trees and testing the limits of his considerable athletic abilities with rollerblading and other X Game-style sports. At 19, Tyler was a college freshman contemplating a career in computer science or Web design. His future seemed bright. Focusing on cherished memories of her son, Debra Kahle McMillan explains, “We learned so much from Tyler. He believed there was always time for fun, and we have learned not to take even five minutes for granted.” Tyler’s sudden death, following treatment for what was believed to be a respiratory problem, stunned and devastated his family. Confirmation that aortic dissection was the cause of death only intensified the family’s anguish. Four years earlier, Tyler’s father, Terry Kahle of Atlanta, had suffered a similar dissection and survived the difficult surgical repair. Tyler might have been saved if his condition had been recognized.
Knowledge gained from Tyler’s death helped save the life of his brother, Marcus. Just days after Tyler’s funeral, 22-year-old Marcus experienced chest pain. At first, the admitting hospital in Atlanta was reluctant to do an imaging study to rule out aortic dissection, assuming he was too young to be at risk. The family insisted, emphasizing the family history and recent tragedy. Imaging identified an aneurysm, and Marcus underwent a successful repair of his aorta before dissection occurred.
“After losing a child to this and very nearly losing another, we want to see an end to it,” Deb explains. She remains a strong patient advocate, extending Tyler’s legacy by working with Nebraska Methodist Health System and the TAD Coalition to advance systemic change in the diagnosis and treatment of thoracic aortic aneurysm and dissection.
[Learn about Familial Aortic Aneurysm]
[Insert “Aortic Dissection at Any Age” video]
When Aaron Roberts was 37 years old he suffered an aortic dissection while on a business trip to Chicago. He found out after the fact that a bicuspid aortic valve was possibly the cause; however, the valve was damaged during the dissection and it was never confirmed.
Here is how Aaron describes his ordeal
Tuesday, September 11, 2007.
I arrived in Chicago for a series of meetings. The first meeting and lunch went excellently. I navigated out to the suburbs to get set up in my hotel. I normally stay near Midway or O’Hare, but could not get a room either place and ended up in the western suburbs near Hinsdale.
I had trouble getting my hotel internet connection to work and worked with several folks overseas trying to get it to work. I eventually went to a nearby Barnes & Noble to update my email.
I returned to my room and set down on the bed to watch TV. But, when I got up off the bed, I felt a pain in my chest that felt almost like a muscle tear. I felt dizzy and light headed. Then I tried to walk over to the phone and collapsed between the wall and the TV stand/dresser. I just happened to look at the nearby clock and saw that it was about 9:30 PM. I woke up about 10 PM and was able to make it the short distance back to my bed. Fortunately, I was able to call my wife via my mobile phone. (I have always had her number programmed in the 5-speed dial position because the 5 key has always had a little bump on it, so I could call in the dark or on the road. It just made it easier it.)
When I called my wife, I told her that I had fainted and I wasn’t sure if I had had a heart attack. I asked her to look up my symptoms on the internet to see if we should call 911.
She immediately looked and told me I should call 911, I mentioned to her that I could not figure out how to dial 911. That sent a signal to her that maybe something was really wrong. She hung up with me, called the hotel and had them call 911.
In the meantime, I was able to call 911 from my cell phone, but they could not figure out where I was and went to the wrong place. The EMTs my wife had called arrived in minutes. I had my door open and was on the bed.
I explained the chest pain, but I also was beginning to feel better and was almost embarrassed that I had bothered them. I was very pale and sweating profusely so they told me that they were going to take me to Hinsdale Hospital.
I don’t really remember much except they kept asking me about drugs and I kept telling them I had a Target Pizza Hut pizza and garlic chips. Per the medical reports I continued to be very talkative in the ER. I had low blood pressure and a normal EKG. The medical staff told me that I kept asking them to help me and kept telling them that they weren’t helping.
I’m not completely clear on all the events that follow, but have attempted to put together everyone’s stories in the correct order.
At some point, the paramedics and the medical staff called my wife trying to get medical history. In the ER or the CT lab I crashed and had to be resuscitated. The ER doctor also drew the blood from the sac around my heart to keep me alive. Because of the pressure from the internal bleeding, the medical staff had a very difficult time intubating me. In fact, almost everyone mentioned how a special procedure on the third attempt saved my life just to get me to surgery.
The CT scan confirmed that I had an aortic dissection. The prepped me for emergency open heart surgery.
The medical team again called my wife to give her an update on my condition and to get more medical history and consent. They told her to get to Chicago as fast as she could because I had only a 50/50 chance of survival. One of the ER intake coordinators helped my wife book a flight to Chicago for 6 AM the next morning.
I went into surgery after midnight. It just so happens that two very prominent surgeons were on call that night. I was told that I could not have scheduled better surgeons; in fact, if they had not both been on call together I probably could not have scheduled them together at all. But, everyone says how great they both are and how good it would be to get just one of them.
There were a couple of complications with my surgery, but they were overcome. The doctor in charge of the cardiac unit at Hinsdale Hospital came out and met my wife in the morning afterwards and explained to her how great the team I had was, how well they all worked together. He said it was like watching a pit crew at the Indy 500, fast, efficient and beautiful.
They explained I was still not out of the woods; the next 24-48 hours would be critical. But, at least I had survived surgery and it had gone about as well as it possibly could have. I now had a new aorta and a mechanical heart valve.
The cardiac program at Hinsdale has an excellent reputation. I could not have been in better hands. I was admitted Tuesday night (9/11) and was discharged to a local hotel in time for Monday Night Football. I returned to Texas the following Saturday and have been seeing doctors and recovering since.
Chantal recounts how she avoided a tragic dissection, in her own words
I grew up being very athletic and concentrated on eating healthy. I knew about the prevalence of heart disease in my family and, even though in my twenties, I experienced chest pain at times. I always had it checked out and was given a clean bill of health via the results of an EKG, stress tests and holtor monitors. I thought I had dodged the heart disease bullet.
One time, when I was 42, I went for my usual jog, feeling healthy as ever. I woke up the next day with severe chest pain that continued long enough to send me to the ER. They did a CT scan and found I had pneumonia. I couldn’t believe it because I actually felt fine. I did get sick as the days went on and eventually needed more antibiotics. I went to the walk-in clinic where the doctor casually asked me, “Did anyone tell you that you had a dilated aorta?” It had showed up on the CT scan that had diagnosed my pneumonia, but I hadn’t been told nor did I know what it meant.
It was only then that I found out that the “heart disease” on my dad’s side of the family was actually the existence of ascending aortic aneurysms and everyone who had it died. My dad died at the age of 54, my grandpa at 63 and my great grandpa at 49. This is something I should have had monitored! Instead, I found out by accident.
Soon the knowledge that it would be watched and eventually require open heart surgery began to sink in. Two years later, to the date, I found out that my aorta had grown from 4.4 cm to 5.0 cm. It was decided by my surgeon that it was time for surgery to repair the aorta before it tore or ruptured. The aorta was fragile and flaky, consistent with a connective tissue disorder. After the operation, I found out it was actually even larger — 5.2 cm.
The knowledge that my three children have an increased risk of aortic aneurysm due to my family history is very important. They will have a baseline scan. I’m also currently participating in a study to possibly help find the gene or connective tissue disorder that caused this in my family. The study is being conducted at the University of Texas Health Sciences Center at Houston by the John Ritter Research Program in Aortic and Vascular Diseases (which is a collaborative partner of the John Ritter Foundation for Aortic Health).
I’m doing fine now. I can skate and jog, although not quite at the same intensity as before. However, I am happy and satisfied with the knowledge that I am no longer a ticking time bomb. I am blessed that the problem was discovered, even though it was by accident. Finding out this way was great, but it would have been better if I would have known about my family history – not just about the heart disease but also about the aortic disease. I am very fortunate to have avoided a dissection. Thank God for accidents and a doctor at a walk-in clinic who happened to care enough to notice.
On the morning of January 30th, 1998, I found myself suddenly widowed at the age of 29 and the single parent of a beautiful seven week-old son. Around 11:45 that morning surgeons were struggling to explain how their efforts had failed to save the life of my 27 year-old husband, Joshua Doss. He had just died in surgery from a ruptured abdominal aortic aneurysm.
He had recently been diagnosed with a genetic connective tissue disorder called Vascular Ehlers-Danlos Syndrome (vEDS), which causes the walls of arteries to be significantly weaker, leaving him at extremely high risk for arterial dissection, aneurysm, or rupture. Our newborn son was just seven weeks old when Josh died. Two weeks after his death I received confirmation from our geneticist that my son, Karsten, had the same life-threatening disease as his father.
The summer before he died, in the eleventh week of my pregnancy, Josh survived a splenic artery dissection that nearly took his life and left him hospitalized for ten weeks. Through the diligence and commitment of our local internist, we were sent to a geneticist at Emory University in Atlanta who diagnosed Josh with the vascular type of Ehlers-Danlos syndrome. Because of his disease, Josh’s body didn’t make enough Type III collagen which is like the glue that holds the cells together. We didn’t realize it at the time, but his body, his vascular system, was literally coming unglued.
In December of 1997 Josh was admitted to the ICU at Emory after doctors discovered bilateral iliac aneurysms which were causing excruciating abdominal pain. That same night while nurses were settling him in his room, my water broke. It was five weeks too soon.
I was taken to a nearby hospital where friends and family surrounded me; Josh and I would not be together for the birth of our son. The night our son was born, Josh’s mother stayed on the phone with him throughout the delivery, keeping him up to date on how the baby and I were doing.
Five days after he was born, I took our son to meet his daddy for the first time. Still in I.C.U., still covered with I.V.’s and monitors, Josh held his son in his arms for the first time and together we cried tears of joy and gratitude. The fact that Josh was alive to see Karsten at all was a gift; we were both keenly aware of how serious things were.
We had six short, precious weeks together as a family. We weren’t always under the same roof because Josh was in and out of the hospital many times. But whenever possible I was there with him, baby stroller and all.
We were staying at his parents’ house on the night before Josh died. Around 10:15 I found him crumpled on the floor, crying out in pain from an aneurysm we never knew he had. His abdominal aorta had ruptured and within 14 hours he slowly, painfully bled to death. Surgeons tried to repair the artery, but his disease had left his tissues so weak, so fragile, that they literally fell apart when touched by the surgeons’ hands. After completing the autopsy, doctors learned that Josh had been living with multiple aneurysms, fistulas, and dissections for years.
Receiving my son’s diagnosis two weeks later was the single darkest day of my life and if I’m honest I must say that I still have not completely come to terms with it. Having that knowledge, though, regardless of how painful it may be, is exactly what allows my son to have a much better chance at surviving than his father ever did.
Because of the lessons learned during his Josh’s illness, I am able to fight for our son’s life with my eyes wide open, fully aware of what risks are involved, and do all I can to try to ensure that things will turn out differently for him. In the fight against vascular complications, knowledge really is power; and education and preparation are the two most important weapons I have.
Groups such as the TAD Coalition and its member organizations are working hard to get accurate, life-saving information into the hands of patients and physicians on aortic complications and the warning signs that can’t be ignored. It’s because of resources like these and the people who work so tirelessly to create them that I have real hope that my son’s life will turn out differently.