In 1994 my parents were divorced, since then I have been very affected. My brother and I stay with my father. At 16 years old I am feeling the firsts symptoms of a bad whose I didn't know the existence.

At school, during classes, I had some loss of consciousness which were diagnosed as spasmophilia fit, spasms whose the origin, from the doctors, were the shock of the separation of my parents.

From 1996 the episodes syncopals have became more serious, I was losing consciousness for no reason. A ringing of the phone, a call, or hearing my father say : "Karine you must get up" one time of more it was the episode syncopal ( I was making a "fit" like everybody tells).

These episodes syncopals become more and more serious and are always attributed to stress, anguish and seeing my father in depression following the departure of my mother.

From 18 to 22 years old I had on average of two episodes syncopals per week. I was feeling to come those episodes syncopals very quickly, I don't always have the time to analyse all that was arriving but I remember that I was feeling an intense heat which was causing to me a lack of breath. At this moment, my breath was becoming very strong, was panting and I was collapsing. During those episodes syncopals, most often I was urinating. On waking, I can't move, I have a feeling that I have a weight on me and that I find it impossible to move my little finger. I was staying paralysed in my bed, and I could not remember anything, it was awful. I was vomiting all day and just before my hospitalization I was vomiting some blood, I had an excruciating headache like if I had received some blows to my head. I have many difficulties in speaking seeing the exhaustion in which I was with a maximum blood pressure to 60-65. I was asking if someone would pass to me a facecloth of cold water for my face, which made me feel better. The doctor called urgently not understanding what he was seeing.

At night in my sleep, I was feeling the episodes syncopals coming, I wanted to wake up but I could not. During those "fits", I had the feeling of counting down in my head and if I didn't wake up at zero, I felt I was going to die, it was a horror!

As soon as I was feeling the "fit" coming on , I would put very cold water on the face, but all was going very quickly, I couldn't see or hear anything . I could not feel my body from my waist to my feet, my legs didn't support me and I was collapsing. However, a few times when checking a "fit", I had the chance to stay a long time at a stage of a panting with some deeps rises of heat.

My life was became a nightmare, a continuous anguish, fear of laughter, with a total incomprehension and an unknown ache or rather non-existent for the doctors. Anyway I was weary of hearing the same words: "contain yourself, that isn't nothing, that will go, you worry yourself too often, you must react, shake you" In fact the diagnosis was easy, he said: "Try to contain yourself, you have nothing serious", therefore I didn't know what to say. I felt responsible for this ache that was eaten me up. I felt my problem was psychological and I must see a psychiatrist. After two sessions I have given up because I haven't learned anything.

In 1999, bit by bit I have become more aggravated of my sickness , I had big psychological problems, I was depressed, and with anorexia, I can't eat anymore. Further to this ache of living, I made a suicide attempt in bolting a tablet tube of LEXOMIL. Immediately I have been taken in a house of rest. I have been here for two days. Immediately upon arriving, the medical staff tried to comfort me. When I come out of this establishment I am starting a search for a job. First I found vocational training then a stable job.

Through these difficult days I was managing to keep my job even though I was exhausted. Each month I had one week of sick leave which was not near enough for the time that I was out.

In October 1999 I met my husband-to-be. I informed to him of my problems of health. Psychologically I was feeling better, not feeling alone therefore I had a little more security. For three months I didn't have episodes syncopals. Then brutally one night it began again until my pregnancy.

At 22 years old, my friend and I decided to have a child. During the nine months of my pregnancy I didn't have any episodes syncopals. But immediately after the birth of my little boy, who was born march 2001, episodes syncopals started again at breakneck rhythm up to twice a day. 15 days after giving birth I was very tired, I was breast-feeding my baby. In fact an episode syncopal in the morning when I awoke and one in the evening on bedtime. I was very frightened to go to sleep, I feared I would not wake. Those episodes syncopals can last from 30 seconds to 15 minutes. They were close to each other and exhausting.

In June 2001, I was getting up from my armchair to see about my little boy who was crying and when I picked him up I passed out and my baby fell out of my arms when I collapsed. Thankfully he was above the bed, therefore he didn't get hurt.

Upon waking, I realized the seriousness of my state and the consequences for my child and myself. Immediately I took the initiative to make an appointment urgently at the CHU in the town of Lilles in the cardiology department for my child. I heard that I needed to speak to Doctor Waksman about my father's family but I didn't have too much information.

When I arrived at the hospital I was taken into care by this doctor. I had several examinations with some ECGs, and with the results he decided to keep me. During this hospitalisation I heard that I was suffering from a serious cardiac abnormality called the Long QT Syndrome and that my two little cousins were being treated by this same doctor for an identical ache. After having examined me, the doctor Waskman said that I was in the last stage of the sickness. Immediately he prescribed me beta-blockers (CORGAR) for four days, then as episodes syncopals was starting again, a pacemaker was put in me and since then I have not had anymore episodes syncopals.

When I come out of hospital I took my baby for an appointment with this same doctor. After three days of hospitalisation, at the end of august 2001, it turned out that my little boy also suffered from the Long QT Syndrome. My baby has been put on beta-blockers (SECTRAL) and he is dealing with it very well. This doctor did a genetics tests. When the results came back in February 2002, my family and I learned that we were corresponding to the chromosome 7, the gene HERG, QT2.

My brother has never had episodes syncopals. Until today he refused to be genetically tested. They made him an ECG who it turned out negative.

Thanks to my hospitalisation I learned all of my sickness. She was concerning numerous members of my family who were already confronted with the Long QT Syndrome for 20 years old.

In my family I have learned more about the genetic ill but without any explanation. My father has never spoken us, probably that he was saying nothing. I have memories of my father when he had episodes syncopals which were happening at the rate of one to twice a year. My father died in October 2000 of sudden death in his bed, he was 45 years old. Dad has always refused to go to see a doctor, he was traumatized by a hospitalisation when he stayed there for three years (from 8 to 11 years old) without any going out, for a decalcification of the hip.

Since my hospitalization I spoke with my uncle who leaves near my home, my father's brother, who also suffers from Long QT and is also on CORGARD for six years after having suffered several episodes syncopals.

From his first marriage, my uncle has a girl that is 25 years old who suffers from Long QT. At 15 years old, she was having some very big problems. She has managed to get from Belgium to Italy in Milan in the department of the Professor Schwartz so that suffering an intervention "the left cardiac sympathetic denervation" and since little she takes beta-blockers also.

At the time she was part of first Europeans patients suffering this kind of intervention.

Very weakened physically, she can't work, however she wishes to have some children. Actually, she is mum of a little girl of 4 years old who would seem not to suffer from QT and a little boy who was just been born who unfortunately suffers from it.

My uncle, father of this cousin, had two little girls, twins born of a second marriage, they are seven years old and are suffering from the Long QT Syndrome, they are on beta-blockers, SECTRAL. They plan to implant a pacemaker at 14 years old if they are still ill.

My father comes from a family of seven children. My father's sister is about 40 years old and suffers from LQTS. They implanted a pacemaker in her when she was 19 years old, despite that she has made three heart failures again ; which encouraged the cardiologist to prescribe her beta-blockers.

This aunt has three girls of 18,16 and 14 years old. The one that is 18 years old had an episode syncopal this summer. Until this day she doesn't wish to know the truth then recently the july 15 2002, she went with her three girls to have examinations. At first sight the ECG should be normal. Now we must wait the results of the genetic search.

I also heard that a young sister of my father died of sudden death in 1982, she was 20 years old.

My grandfather on my father's side also died of sudden death. Unfortunately I don't have all the information on my family, not knowing all the members.

After my hospitalization being sure of the existence of my ill I was wanting to know more and to speak with patients, people who can understand me and in same time to know their life.

This year, in March 2002, I made inquiries through the Internet. I had the chance to find an organization corresponding to this sickness. Through this organization, I can speak with some people who like me, have a painful life and who can understand me. I have been astounded by the stories of people that are victims and have no comprehension and I was asking myself this question "How is it that it has taken so many years to discover this sickness and know of the medicine, even if she remains rare?" Sickness wrongly diagnosed or diagnosed too belatedly and it is the discover of sudden death in the families and it is without forgetting the patients not diagnosed who are too numerous, alone and without treatments.

If I tell my story it is in the first place for saying that now I am not alone more with my ache, that I am not an imaginary ill who deserves the contempt, who is not fit to be listened to. Since I met people with who I can communicate, who understand me, give me moral support and for me this is very important.

Beside my health I am feeling better since I no longer have episodes syncopals, I can say that I am feeling alive again as if I am limited in my activities of all days. I get tired very quickly and I need a lot of rest.

Beside psychologically, I don't have to solve so many years of anguish contempt. There are some words and suffering who leave a mark at ever. I ask the doctors to listen more to their patients. I think that the majority of patients don't go in consultation by pleasure. I am grateful to my doctor of family who has had the courage and the modesty to make one's apologies when he knew I was suffered from the LQTS, what is rare in the medical profession and I want to thank you him of this process.

I want give hope at all the patients, I tell them that as if it isn't impossible for the moment to cure of this ill, there are several possibilities of therapies according to the seriousness of cases.

I encourage all the persons to write their family story. That is how we can progress, when we support and we give to each other.

Karine

(Region of North France)

I am anxious to thank Kerri Sheet for her help for the English part of Karine's story. Thank you very much Kerri.