When our first child was born in November, 1998 no one knew that Long QT Syndrome [LQTS] existed in our family. Although through unfortunate circumstances, a diagnosis was thankfully made approximately six months later.
My history with LQTS began in the mid 1960s, at the age of 6. Between then and age 10 I had six brief episodes of syncope. All of these occurred while or shortly following physical activity, including hockey, soccer, wrestling and twice while swimming. The first time that I fainted was on the front porch of my parent’s home after running vigorously playing hide and go seek with neighbourhood children. On the last two occasions I nearly drowned and had to be resuscitated. As a result of these episodes I was thoroughly tested in Edmonton hospitals in the late 1960s. I was initially tested for epilepsy and other neurologic disorders, all of which were ruled out. I was never provided with a specific diagnosis, although it was suspected that my problem might be a cardiac one. I was ultimately told that I would likely outgrow these episodes and no treatment or medications were ever prescribed. I had no further fainting episodes or health problems during the following thirty years and was not on any medication. I remained very active in numerous casual sports and exercised four to five times a week in the 15 years leading up to our daughter’s birth in 1998. I had also been subjected to a significant amount of emotional stress, completing seven years of university in business and law and practiced as a litigation lawyer. I only mention this because it is now known that emotional stress, in addition to physical stress, can be a “trigger” in some LQTS conditions.
In the early 1990s my mother saw a newspaper article which discussed symptoms which were much like those I had experienced as a child. As a result of that both she and I saw a cardiologist and were advised that our QT intervals were long, although there was no formal diagnosis of either of us having Long QT Syndrome. My mother had no history of fainting episodes and similarly had no knowledge of any of her family members experiencing difficulties or being diagnosed with Long QT Syndrome. However, one of her older brothers passed away in a drowning incident during her youth. In any event, although both my mother and I were provided with a list of medications to avoid neither of us were prescribed any further treatment or medication given the passage of time and the absence of any symptoms in the intervening 25 years.
In late May, 1999 I was involved in an unusual and relatively stressful presentation in preparation for an upcoming trial. At the outset of that presentation I collapsed and went into ventricular fibrillation. The only reason I survived was that I was blessed and fortunate enough to be in a meeting in the Administration suites at the University of Alberta Hospital in Edmonton when my arrest occurred. As a result, medical assistance was readily available. Not surprisingly, that moment was a life – altering event in many respects, both for myself and our family. I distinctly recall the cardiologist who responded to the code saying to me after being resuscitated that I looked “pretty good for a dead man” because my heart had stopped beating for five minutes.
I subsequently had a pacemaker defibrillator (ICD) installed and was placed on a beta-blocker medication. That medication, Acebutolol, was subsequently changed approximately 20 years later to Nadolol as the cardiologist treating myself and our children felt that it was a more effective beta-blocker medication for our condition. Our son was born in the summer of 2000 and in 2002 both of our children were genotyped and also found to carry the KCNQ1 gene associated Long QT, Type 1.
Upon receiving the results of our children’s genetic testing I was initially devastated but my wife and I also immediately realized that this knowledge would allow for appropriate treatment and hopefully protect them. I am thankful that our children, now ages 23 and 25, have been successfully treated with beta-blocker medication for the last 20 years. ICD’s were considered as a mode of treatment when they were young but a decision was made to treat them solely with beta-blocker medication, at least until one or both became symptomatic, which thankfully did not occur. Although there were certain things that our children were unable to do while growing up, like participating in intense sports such as hockey, marathon running and swimming they have otherwise been able to essentially live normal lives. We are obviously hopeful that this will continue and they too will have the benefit of being able to plan and test their own children should they choose to have them.
Although I was able to return to work three weeks after my initial cardiac arrest in the Spring of 1999 and was able to continue in full-time practice through 2022, my own LQTS journey was not without incident. An ICD lead failure lead to two other cardiac surgeries in 2001. Many years later, in 2018, I began to experience shortness of breath with mild exertion and it was discovered that the ICD leads, including one failed lead that had not been removed, had significantly damaged my tricuspid valve. That required open heart surgery to both remove the leads and put in a prosthetic tricuspid valve. A number of days following that surgery I had a second cardiac arrest, although I was advised it was not directly caused by my LQTS condition.
I have shared my story in numerous forums over the years, understanding the importance of awareness regarding SADS conditions, including LQTS. I am hopeful that this may, in some small way, indirectly contribute to heightening awareness and assisting in the diagnosis and treatment of other individuals with Long QT Syndrome or related conditions.
“It is through my dad’s tough circumstances that me and my brother were diagnosed very early on and can live a life less impacted by Long QT. Him being so close to death more than once has led me and our family to live a far more grateful life, to enjoy each day we have on this earth, and every day we get together as a family. We feel incredibly blessed he is still with us today and that the knowledge and awareness on Long QT is now much greater than it was when he was growing up. I am thrilled that because of wonderful nonprofit organizations like SADS that this awareness is continuing to grow.” – Riley, Jays Daughter