All in the Family, Lisa and Lauren, ACTA2 Mutation
On a spring evening in 2010 I was reading a bedtime story to my son, Alex, when I noticed a flash of light in my vision. I tried to refocus by squeezing my eyes shut but the zigzagging lights would not go away. Then I felt heat and an unusual heaviness in my chest. The sensation moved to my throat and jaw. My husband, Ken, called 911. As is not uncommon with aortic dissection, my vitals were all normal. I went to the hospital just to be ‘on the safe side’.
I was seen at the same hospital where I’d given birth only six days earlier to our healthy baby girl, Lauren. The diagnosis took some time and I later learned that I lay in that hospital bed like a ticking time bomb; not just for a few minutes or hours, but overnight. Nobody could diagnose the strange, seemingly unrelated cluster of symptoms that I was experiencing. At 8 am we learned my blood work was normal and was told that I could go home. Arriving to start his shift for the day, a radiologist examined my chest CT as I was getting dressed to leave. He found what nobody else had - an aortic dissection. When they told me, I was instantly terrified. My father had died of complications related to surgical repair of an abdominal aortic dissection when he was only 45 and I was just 19.
I was rushed to the Hazal McCallion Institute for Heart Health at Trillium Health Centre in Mississauga, Ontario, where I underwent highly complex surgery. Deep hypothermia was induced and my brain was without oxygenated blood for close to ninety minutes; a recipe for brain damage. The dissection ran from the root of the aorta, through the arch, and down through the descending aorta. The arteries going to my head and neck were tearing from the aorta and there was very little healthy tissue to work with. I had been bleeding internally and suffered two strokes before the operation had even begun. When it was all done, the surgeon advised my husband that I’d likely be in coma for two to three weeks. I surprised everyone by waking the following morning.
The surgery was a tremendous success, but I had a long recovery ahead of me. One stroke had taken part of my vision another had caused paresis in my right side. I was in hospital for two months. My husband was running the house and taking care of two kids. One was just new to the world and her mummy was not with her. Ken worked hard to hold it all together. He would visit me daily, work as much as possible, make dinners, do the laundry, entertain the kids, and then get up throughout the night to feed our newborn.
It was truly a disaster of epic proportions for our little family. We found out later, that all of it could have been avoided. Twenty years earlier when my father passed away we were told aortic dissection was not heritable except in carriers of Marfan syndrome which he did not have. What happened to my father in 1991 was likely not preventable; we didn’t have the medical knowledge regarding aortic health then that we have now.
Fast forward 20 years and we now know that Marfan syndrome isn’t the only path to genetically-based connective tissue disease affecting the cardiovascular system. Other diseases such as Loeys-Dietz and ACTA2 carry the same risks of aortic disease. Through a geneticist I soon learned that the rapid deterioration of my aorta was triggered by the pregnancy and did have a genetic basis though it was not Marfan syndrome. We went on to discover that myself, my sister and my little Lauren all carry a genetic mutation known as ACTA2, as did in all likelihood my father. This places us at an inordinate risk for thoracic aortic diseases such as aneurysms and dissections that are related to connective tissue disorders.
What happened to me was preventable had my family physician been more knowledgeable about the sizeable risk of family history as it relates to aortic dissection. What happens from here with my health and that of my sister and my daughter is now something that we can actively manage. We are all being monitored closely so as to prevent any acute aortic events. Prevention is the key.
We need to continue with research efforts to help us understand ACTA2 and cardiovascular connective tissue disorders better. They are complex and multi-systemic but most of all, they can be deadly.
Although I have some residual vision loss as a result of the stroke I’ve been fortunate to be able to return to my life as a mother, wife, daughter, sister, relative, and friend. I can work, drive, read, and take care of my kids and family. In fact there is very little that I cannot do in the same way that I did before this incident took place. I was lucky, I figure I won the jackpot; but like the lottery, many don’t win.
Please help to improve the odds by contributing to the efforts of the Genetic Aortic Disorders Association Canada.