Updated February 12, 2018
How a faulty gene is slowly robbing
our son's future and makes him
"differently abled"...
A parent of an A-T child once wrote and we can relate so much: "Everyone keeps saying we are strong... but we are NOT. We are actually very brocken physically and mentally. We wake up tired and go to bed tired. We have NO choice every seconds, every minutes, every hours of every days of our lives. A-T doesn't take a break in the summer or winter, at Christmas or at spring break. Many sacrifices are made to properly care and love our son while everyone else goes on with their lives... normal stuff. So we are NOT strong. We are stuck in the A-T inferno and try to do the best we can as parents and as a family to just go through one day at a time.
Teenagers like to talk about what they will become once they finish High School like driving a sporty car, choosing between university and college and then a rewarding career and becoming a parent. It is the sort of thing that most parents think about and wish for their children. But for us, those privileges have been taken away for our oldest child. Our life wishes for him have disapeared in a blick of an eye. It is simply heartbreaking to think that Alexandre will not have the opportunity to experience any of these things that a person should experience in a lifetime. Just trying to go through one day at a time is what we were given to think about.
Watching our son's health deteriorate each day is more than overwhelming. It is frustrating and painful. He is such a smart and loving person. We want him to have everything good that life can provide him.
Since Alexandre was 15 months old, we have consulted quite a few specialists in various hospitals. By the age of 5, he was wheelchair bound. For fifteen years, no one knew what our son had. The only diagnosis they could come up with was a severe progressive generalized dystonia of unknown origin. Numerous investigations did not yield any answers. Because he had no diagnosis, no one knew how to treat his disorder.
As of today, his condition keeps deteriorating. Alexandre is unable to do anything by himself because of his progressive dystonia and ataxia. The symptoms can range from twisting of the limbs to twisted postures accompanied by rhythmic jerking movements and involuntary spasms. The symptoms tend to be worse later in the day (diurnal fluctuation) than in the morning. He is no longer able to talk and even to provide himself the basic of his personal needs, like going to the toilet, washing, eating... everything that we take for granted. Since his needs are very demanding and challenging, Alexandre requires constant supervision, support and full assistant 24/7.
Alexandre will be turning 22 years old on April 10. As time goes by, he is more and more challenged by severe physical disabilities. That is why we are now being followed by a palliative care team. And for a while now, since his mind hasn't been affected, he deals with a lot of life issues. Remember your High School after ball party, your first car, your first girl or boyfriend... those were happy moments. Unfortunately, Alexandre will never experience any thing of these life moments like you did. The thing is that he mentally feels it but aren't able to live it.
We are relieved in many ways to finally have an answer to the mysterious ailment robbing our son of his health and strength after 15 years of research. In June 2012, he was diagnosed with atypical Ataxia-Telangiectasia (A-T), an orphan, genetics complex and progressive neurodegenerative syndrome.
According to Kyle Boyd, a young man with A-T in the Region of Durham (ON Canada), we are ALL "differently abled". Like him, we don't like the term "disabled" since everybody is able to do something. Everybody has unique abilities that vary from each other. Even though Alexandre is in a wheelchair, that he is unable to take care of himself, speak clearly, write or process like a normal person, it doesn't mean that he is not good at anything. His intellect is sharp and he is aware of the pain and frustration his disorder and treatment inflict.
We try to keep everything as normal for him as possible. Alexandre has a 18 year old sister. We have dedicated ourselves to making Alexandre's life as easy and as loving as possible while maintaining a normal family life and raising our family as best as we can.
We can't think too much about the future, as it would drive us mad. A-T is the worst condition you could ever imagine to affect a child and our son has it. Imagine a disease that combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies and cancer. A-T is a multi-system disease.
But despite our own worries, fatigue and pain, we go beyond the limits of imaginable strength to remain positive, joyful and grateful. We always say: "Despite our bad luck, we are fortunate". But for sure, our family can't experienced what normal families do, like traveling and family activities.
But anyone whose life is touched by Ataxia-Telangiectasia is changed forever. Your world is suddenly altered, and the future is most uncertain. It is making adjustments, physical and psychological, that many find agonizingly difficult
Emily Read, mother of a little girl with A-T in the UK, once wrote: "There is a cure out there. They just haven't found it yet. We have to remain positive that there is something that can be done." Even if it comes too late for Alexandre, hopefully it won't be too late for other children with A-T. I couldn't find better words. This is what we say from the beginning and we continue to believe in. We strongly believe that everyone is, in this world, for a mission.
Alexandre, and all those kids who have A-T, are put on our path to teach, us all, a lesson: to learn to see and love life with our heart, not our eyes.
Watching our son's health deteriorate each day is more than overwhelming. It is frustrating and painful. He is such a smart and loving person. We want him to have everything good that life can provide him.
Since Alexandre was 15 months old, we have consulted quite a few specialists in various hospitals. By the age of 5, he was wheelchair bound. For fifteen years, no one knew what our son had. The only diagnosis they could come up with was a severe progressive generalized dystonia of unknown origin. Numerous investigations did not yield any answers. Because he had no diagnosis, no one knew how to treat his disorder.
As of today, his condition keeps deteriorating. Alexandre is unable to do anything by himself because of his progressive dystonia and ataxia. The symptoms can range from twisting of the limbs to twisted postures accompanied by rhythmic jerking movements and involuntary spasms. The symptoms tend to be worse later in the day (diurnal fluctuation) than in the morning. He is no longer able to talk and even to provide himself the basic of his personal needs, like going to the toilet, washing, eating... everything that we take for granted. Since his needs are very demanding and challenging, Alexandre requires constant supervision, support and full assistant 24/7.
Alexandre will be turning 22 years old on April 10. As time goes by, he is more and more challenged by severe physical disabilities. That is why we are now being followed by a palliative care team. And for a while now, since his mind hasn't been affected, he deals with a lot of life issues. Remember your High School after ball party, your first car, your first girl or boyfriend... those were happy moments. Unfortunately, Alexandre will never experience any thing of these life moments like you did. The thing is that he mentally feels it but aren't able to live it.
We are relieved in many ways to finally have an answer to the mysterious ailment robbing our son of his health and strength after 15 years of research. In June 2012, he was diagnosed with atypical Ataxia-Telangiectasia (A-T), an orphan, genetics complex and progressive neurodegenerative syndrome.
According to Kyle Boyd, a young man with A-T in the Region of Durham (ON Canada), we are ALL "differently abled". Like him, we don't like the term "disabled" since everybody is able to do something. Everybody has unique abilities that vary from each other. Even though Alexandre is in a wheelchair, that he is unable to take care of himself, speak clearly, write or process like a normal person, it doesn't mean that he is not good at anything. His intellect is sharp and he is aware of the pain and frustration his disorder and treatment inflict.
We try to keep everything as normal for him as possible. Alexandre has a 18 year old sister. We have dedicated ourselves to making Alexandre's life as easy and as loving as possible while maintaining a normal family life and raising our family as best as we can.
We can't think too much about the future, as it would drive us mad. A-T is the worst condition you could ever imagine to affect a child and our son has it. Imagine a disease that combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies and cancer. A-T is a multi-system disease.
But despite our own worries, fatigue and pain, we go beyond the limits of imaginable strength to remain positive, joyful and grateful. We always say: "Despite our bad luck, we are fortunate". But for sure, our family can't experienced what normal families do, like traveling and family activities.
But anyone whose life is touched by Ataxia-Telangiectasia is changed forever. Your world is suddenly altered, and the future is most uncertain. It is making adjustments, physical and psychological, that many find agonizingly difficult
Emily Read, mother of a little girl with A-T in the UK, once wrote: "There is a cure out there. They just haven't found it yet. We have to remain positive that there is something that can be done." Even if it comes too late for Alexandre, hopefully it won't be too late for other children with A-T. I couldn't find better words. This is what we say from the beginning and we continue to believe in. We strongly believe that everyone is, in this world, for a mission.
Alexandre, and all those kids who have A-T, are put on our path to teach, us all, a lesson: to learn to see and love life with our heart, not our eyes.