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Gilbert - Living with factor X deficiency

by Gilbert Nicole, Crabtree, Québec

Factor X deficiency is a very rare disease and not very well known. According to the Canadian Hemophilia Registry, 37 people affected by this disease were living in Canada in 2013. This translates to about 1 in one million people affected by this bleeding disorder. Gilbert Nicole is part of this select group. Here is his story.Sébastien Bédard

I was born in 1955 on a farm in Montmagny, Québec. My father is Léopold Nicole and my mother, Noëlla Nicole. I'm the ninth in a family of ten children, made up of five boys and five girls.

Of the ten children, three brothers are living with factor X deficiency — Pierre and Jacques, twins born in 1941, and me. Pierre took over the family farm and had a few bleeds after injuries, notably after a fractured leg while working in the woods. Jacques was a chartered accountant all his life (and is still practicing at 73). When he was young, he had a serious operation for appendicitis, where he lost a lot of blood. This statistic (3 children out of 10) leads us to presume that both my parents were carriers of the same defective gene, and also makes us suspect that there was some degree of blood relation between them. In fact, the histories of both my paternal and my maternal ancestors include a number of similarities. Same family name, same country of origin (France), same region and same number of generations living on Canadian soil.

My first “hemo'folly”
My first memories with hemophilia go back to the age of three or four. I got the brilliant idea to put the female connector from the vacuum plug into my mouth. The vacuum wasn't plugged in, but the wire was still plugged into the wall socket. The shock was immediate. My first reflex was to yell very loudly and to pull with all my might on the wire, stuck like two hungry suction cups to my tongue.

There ensued an emergency trip to the hospital where I was put to sleep so that they could suture my tongue. As a souvenir, I have two lovely scars in the shape of stars on my tongue. I was told that that the healing process was punctuated by a few bleeding episodes that no doubt revealed my hemophilia.

It's hard to say whether or not I have any physical or psychological scars from this accident. At times I have episodes of atrial fibrillation. I sometimes wonder whether or not the electric shock could be related to this type of cardio electrical problem.

My second “hemo'folly”
My second adventure happened in 1970 at the age of 15, when I helped gather up rocks, without really pushing myself too hard. After supper, I went over to a neighbour's where we listened to a record of funny stories. I remember laughing until my stomach hurt. I rode home on my bike at about 9 p.m. At that point I started to feel a bit weak and nauseous. Later, I woke up feeling nauseous. I vomited up an enormous amount of blood and lost consciousness for a few minutes. Once again, the whole household was in an uproar!

I remember being taken out of the house on a stretcher and telling the paramedics not to put a sheet over my head because I wasn't dead yet... These words slightly 'reassured' my mother, who was in tears... I remained in the hospital for a few days to receive blood and plasma transfusions and do several tests.

Since at that time there was no camera that could investigate more in depth, it was decided that I had a stomach hemorrhage caused by physical effort. The only instructions I got when leaving the hospital were to limit my physical activities and not to laugh too hard for two or three weeks.

Following this second misadventure, I still continued to lead a very active and normal life, working on the family farm and playing different sports during which I sustained a number of hematomas on my legs, got black eyes and even fractured my nose. But nothing stopped me from laughing like a madman whenever I got a chance to!

I can honestly say I lived a worry-free life in relation to my disease, especially between the ages of 18 to 30, during which I left home to study at CEGEP, then went for a bachelors in rural economy, followed by a 6-month apprenticeship on a sheep farm in Australia and then started off my career at the Lanaudière Agricultural Producers Union (UPA).

During this time, I discovered different outdoor sports with my wife, Claire. We travelled in Europe and the United States a few times, taking long hikes in the mountains and biking, sometimes fairly far from any first aid.

Our son, Alexander, was born in 1986, and our daughter, Laurence, was born in 1989. Since then, we've continued to take part in active sports and hobbies as a couple or as a family, but without straying too far away from some kind of first aid, mainly for the children's safety.

My third “hemo'folly”
My third serious event took place in the summer of 2001, as I approached turning 46 years old. One evening, I had indigestion which didn't last long and so I went to bed. The next day I did a bit of gardening and felt some fatigue, which I put down to my indigestion from the previous night.

During the day, I had a bowel movement and I noticed that the stools were black. I didn't worry about it right away, telling myself that it would pass and everything would be fine after a good night's sleep. Mistake! The next morning when I awoke, I was extremely weak and felt as if I was going to faint. I asked Claire to call an ambulance. I got to the hospital and was put under observation. A short time later, I began vomiting blood. I was immediately transferred to intensive care where I received a number of blood transfusions. I spent ten days at the hospital. A gastroscopy allowed the doctors to see a mild irritation in the sphincter between the stomach and the esophagus that was bleeding. It seems the irritation had been caused by the short bout of indigestion from two nights before. Since I had lost a large amount of blood and iron reserves (a third of my blood, according to the doctors), doctors prescribed a convalescence period of two months, after which I asked my employer for an additional month without pay.

Since then, I have always worried about possible indigestion. I've only had one episode, with no consequences, but previously, it would happen once a year on average following the little 'gifts' that children brought home from the day care or school. Considering the numerous bouts of indigestion I had as a child, I feel lucky not to have suffered other hemorrhages, but I remain more nervous about going too far from first aid care for outdoor activities.

My fourth “hemo'folly”
My fourth and last episode up until now dates back to a morning in June 2008 when I noticed I had black stools. Remembering my severe hemorrhage in 2001, I didn't wait and went to the emergency department where I was quickly admitted. They found an irritation in the same place as in 2001, at the sphincter joining the stomach and the esophagus, a type of irritation called 'Barrett's esophagus'. The hemorrhage was controlled rapidly. I spent only a brief time at the hospital (two days) and was back to my normal activities and work in the following days.

Since Barrett's esophagus is due to gastric reflux (which wasn't observed in 2001), the gastroenterologist prescribed Pantaloc (a drug whose purpose is to reduce the acidity in the stomach and facilitate healing of the irritated esophagus) permanently to limit damage caused by gastric reflux and halt the progress of Barrett's esophagus. The good news is that this recent hemorrhage made it possible to diagnose and treat a gastric reflux problem for which I had never noticed any symptoms.

And that's my story in relation to factor X deficiency. Of all the adventures I lived through, the most striking for me was the one in 2001. It's when reality caught up with me, when I truly became more aware of the risks related to my condition.

I admit that before 2001, I was vaguely, in fact not at all, worried by my hemophilia, despite the problems I'd had when I was 3 or 4 and 15 years of age.

Despite it all, at almost 59 years of age, I have a job that's fairly demanding, in management at the UPA Federation in Lanaudière where I began my career in 1979. In spite of my office job, I try to keep active and in good shape by doing a number of activities including gardening, arts and crafts projects, biking, kayaking, cross-country skiing, alpine skiing, hiking — not to mention vacuuming… They are what help me keep a certain physical and mental balance.

- March 2014