I am 36 years old, fourth of a family of six children and, even if I have the long QT syndrome, I am in good health.
My testimonial cannot be compared to previous ones, as I do not have any symptoms: I live normally; I just take a daily beta-blocking medication since November 1996. In 1989, one of my mother’s cousins died suddenly while sleeping in the hospital. She was 35 years old. I barely knew her. I learned, some time later, that she was sometime fainting. This sudden death, during a set of medical examinations, looked to me both strange and chocking.
Few months later, my maternal grandmother did let me know that, in fact, her niece’s death was caused by a genetic heart disease. That information did not attract my attention until being told by my mother that the doctor, following an ECG, diagnosed her with a “minor” anomaly of the cardiac rhythm called long QT syndrome. I did link both information and concluded that my mother was affected by the same illness her cousins died from.
As, personally, I did not have any problems; it took few months to realize the benefit of having an ECG done. I was torn between wanting and not wanting to know. Reason did prevail.
During the following months, in 1991, if I remember well, my brothers, sisters, and I consulted a cardiologist. A long QT was diagnosed for all of us except my younger sister. She was borderline and therefore, in theory, disease free. (She died in 1995 in an accident without completing any further tests.)
These results did not change our lives. We were only warned to be careful about taking some medications on a list that was supplied to us. Doctors were encouraging, telling me that I had nothing to fear, that this “anomaly” had been found by chance, and that I would never have found out otherwise.
However…
However, in 1994, one of my brothers suddenly passed away while sleeping. He was 30 years old. We did request a post-mortem, but we were not able to obtain it. We were told that it was due to the rupture of an aneurism and that it was happening some times.
I always had doubts regarding the rupture of an aneurism. While I will never know for sure what did happen exactly, the link between his long QT and death seems evident to me. I keep remembering that the phone rung just before he was found dead… just like with my mother’s cousins.
Six months after my brother’s death, all the family was requested to go to the hospital for heart examinations. I remember going there without really knowing why. I did not understand the results and the doctor was not really ready to talk. Few days after, our family doctors received instructions to prescribe beta-blocking medications to the five of us. I was prescribed half a Detentiel daily.
Since that time, I am taking beta-blocking medications without any adverse effect.
I went to a private cardiologist in 2000. I remember that he did not understand why I had been prescribed beta-blocking medications only six years ago when it was known four years before that I had the long QT syndrome. According to him, I should have been prescribed beta-blocking medications immediately.
I fully understood, that day, that my brother could be still alive today if he had been prescribed beta-blocking medications. Our situation was not dealt with seriously, specially my brother who was having some seizures during his sleep. Those seizures were diagnosed as epilepsy.
During a family reunion, in 2001, I was told that most of those tested in 1997 had some results. Our family bears the long QT, type II, with a mutation of the Herg gene. I totally forgot that, in 1997, I went back to the hospital for blood tests and a Holter test. No one told me why. I met a nurse that was doing the tests prescribed by a cardiologist that I had never consulted. Other family members had the same test performed… for research. I found out, four years later, that those tests were genetic tests. We were told that the results would take long time and that it was even possible that we would not receive them. I had forgotten this incident.
I tried to obtain my results. The cardiologist told me that the tests done in 1997 had to be redone due to a mismatch between my genotype and my phenotype. Potentially, it could mean that the long QT present in every ECG could not be confirmed in my genes. In consequence, I was very skeptic.
In May and June 2002, the genetic study confirmed the long QT syndrome for my mother and my youngest brother. For my sister and my elder brother, the gene mutation is not present even if their ECG shows a long QT. After eight years with beta-blocking medications, they can progressively stop it and they do not need to watch the list of medications anymore.
I got the results of my second genetic study in October of 2002. I have the long QT syndrome even if I never had any episode of fainting. The cardiologist changed my prescription from Detentiel to Corgard saying that Corgard gives better protection if I occasionally forget to take it. Except for the Raynaud syndrome in my hands and feet, especially during cold weather, I have no side effect with Corgard.
I am reassured by the beta-blocking medications given the family context. I have a very stable pulse and blood pressure.
I am sometime wondering what could happen to me. I live normally. I practice sports except those with strong accelerations on the advice of the cardiologist. I have stopped practicing aerobics and badminton even if I never had any problem doing those. I walk and do maintaining gymnastic every week.
My maternal grandmother also has the long QT syndrome. She never had any problems until she was 90 years old when she had fainting spells. Those fainting spells stopped after she was prescribed beta-blocking medications and she lives like a normal 92 years old.
The rest of the extended family does not have symptoms whether they did some test, took it lightly, or ignored it. Some are made aware of having the long QT syndrome by chance, for example, during checkups before practicing a sport such as tennis. Sometimes, they have to abstain practicing such sports due to the result of the checkup.
That is the story of my involvement with the long QT syndrome.
I do not necessarily understand all elements of my situation that is very different of that of people with symptoms. Sometimes, I am scared of not having warning signals. I do not know what else I can do considering that doctors contradict each other. I realize that, even if important progress has been made, not much is known about this condition. Lack of information is sometime destabilizing.
Jeanne
