To each his mission!
"We never thought that life would give us such challenges and why we have been chosen for it!"
My name is Alexandre Deschamps and I'm 21. I live in Rockland, Ontario (Canada) with both my parents, Luc and Nathalie and my younger sister, Gabrielle, who is 18. I love life and I am determined not to give up.
Here is my journey...
My mother often tells me how proud she was to talk to me, to hum me a few songs and to caress me while I was still in her womb. She could not wait for the day when she could take me in her arms for the very first time. The pregnancy and birth were both without complications. I was born on April 10th, 1996. My father was so proud to see my little face. Within my first year, I helped my mom and dad discover the joys of being parents. But, at the age of fifteen months, my life took a different turn. God had already predetermined my fate and I was unfortunately on that list. This is the story that will help my parents grow and discover life in a whole new way. We must not forget the thousands of tears and questions asked along with the numerous battles we’ll have to face...
My parents described to me how I used to walk without any balance. My walking was wobbly, unsteady and I held my arms above my head for stability and keeping my balance. I would often fall and I was never able to ride a tricycle. In the beginning, my parents thought that it was normal since I had only been walking for three months. A short time later, they decided to consult a doctor. It was in May of 1998 that I met a neurologist for the first time. That appointment led us nowhere. He said that I was double jointed and with time, I would grow out of it. My parents didn’t agree, but trusted his opinion. I was still happy and full of energy. Four months went by. I was still unsteady, had limited speech and was still drooling. I was starting to show signs of fatigue after activities. My parents wanted a second opinion. I then met another paediatric neurologist. He immediately came to the conclusion that something was wrong with me. I was therefore referred to the Children’s Hospital of Eastern Ontario (CHEO) (Ottawa ON Canada) where my name was placed on an eighteen month long waiting list to meet with a developmental paediatrician. What really saved us was the mention of a well known organization for children, family and community services. We had the first consultation the following Monday. At the end of this consultation, I was immediately referred to the chief neurologist at the Ottawa Children’s Treatment Centre (OCTC) (Ottawa ON Canada). This is when the multitude of consultations, investigations and tests began. I underwent a series of tests that all came back with no trace of evidence. During this time, my parents were very concerned, worried, despaired and many tears were shed.
Several months went by. I met several other specialists. I underwent many more tests while my parents fought to get me the best care and services possible. All through this, my condition continued to deteriorate. It was during one of these consultations that our neurologist told us that I may have cerebral palsy. I had just turned three.
On March 12, 1999, my mother gave birth to my little sister, Gabrielle. Even though she is younger than me and despite our brother and sister disputes, she helps me a great deal all the time. She is my little angel and always will be.
In July of 1999, the Fondation Alexandre Deschamps’ Foundation was established. Funds collected allowed me to undergo hyperbaric oxygen treatments. Considering that these treatments are extremely expensive, my parents had to work hard with the help of others to raise money. They hoped that people surrounding us would respond to our call for help.
But as time went by, my physical health deteriorates. Walking without assistance had become nearly impossible for me. I would fall every three or five steps that I would take. It was then that I needed a walker and prosthesis because my feet began to turn inwards.
Since the first day, my parents asked God thousand of questions. But unfortunately, no answers were revealed. They never lost hope and continued this long road with me. Through their perseverance, they requested that we meet with specialists at the Hospital for Sick Children in Toronto (ON Canada) for another opinion. On November 9th, 1999, we went to meet three neurology and metabolism specialists. Again, they were unable to come to a clear diagnosis with respect to my symptoms.
During this time, the community and our relatives demonstrated their support and displayed tremendous generosity. I began my first series of hyperbaric oxygen treatments on November 20th, 1999. My parents said that I always showed courage and a positive attitude through this change of routine. For me, each day was like a trip in a rocket. But I did not travel alone. My dad or my grandfather was with me every day. Everyone was extremely proud of me and I demonstrated improvements. A ray of hope was more and more present. On February 21st, 2000, I began my second series of treatments.
Unfortunately, it was all too good to be true. Other major signs of deterioration manifested themselves. Doctors told us to stop the treatments. Something else was wrong with me, something that could not be helped with hyperbaric oxygen treatments.
During this time, at the Ottawa Children’s Treatment Centre (OCTC) (Ottawa ON Canada), everyone called me “The Little Mystery Boy”. It was obvious that something was wrong with me... my legs decided not to support me anymore and all those negative tests with no results. To this day, doctors were very puzzled. They were quick to realize that I probably did not have cerebral palsy. I was deteriorating too quickly. They then looked at other types of diseases, which were discarded from their list. Once again, I did not respond to what they were looking for. My blood works nearly made it around the world for research purposes. My mom and dad say that I am their little angel sent from Heaven... with a mission to accomplish!
My father lost his job after 25 years of service. He was declared surplus in April 2012. My mother still continue to work her full-time job. Even though they sometimes feel completely drained, they continue their fight for my life. They had to struggle long and hard, especially to obtain a custom wheelchair in a very short time frame. I have been confined to a wheelchair, five years earlier than predicted. For my parents, having to wait several months for the final product was not an option. It took only one hundred and sixteen days... from the day of the request to the day of delivery. My parents really amazed quite a few. They do not let anyone intimidate them. We must also remember that it was the same scenario of constant battles to obtain several services. Sometimes, they had to talk louder but in the end it paid off.
I started elementary school in September 2000. I was accompanied at all times by a teacher’s aid. I quickly adapted myself to this change. I developed complete confidence in her. I also was able to make new friends and found my inner child back. My tears were rapidly converted into happiness. People around me were extraordinary. They made sure that I was safe, that I expanded my horizon to my full potential and that I met the maximum of my capacities. One teacher once told my parents that I was a ray of sunshine and through my personal magnetism, I attracted people. To this day, I always find a way to smile, love to tease and have fun. Mom and dad had accepted the fact of seeing me in a wheelchair. Now the people around me are doing the same.
Even then, my parents were determined to take consultations to another level. On June 4th, 2001, my parents and I left for New York City (USA). It was the first time flying for my family. What an experience! We had an appointment scheduled on June 7th at the Institute of Neurology of New York. We stayed for four days. Again, they were unable to give a clear diagnosis of my condition. All they were able to say was that I suffered from a neurological progressive movement disorder. I understand the eagerness of my parents to find the nature of my illness. However, there is surely a reason why it did not want to reveal itself at that time. Mom and dad believe in destiny and they say that things always happen for a reason.
The above-mentioned symptoms continue to degenerate. But other symptoms have manifested themselves. I have several uncontrollable involuntary movements. I have more difficulty swallowing so I choke more often and my body is in constant contractions and twisting. I need to be under supervision at all times. I cannot dress, feed nor go to the bathroom by myself. My physical handicap has severely affected my gross and fine motor skills. My speech is not as clear as it was and I have difficulties controlling my saliva. I have become a prisoner in my own body. I'm aware of my condition since this disorder hasn't affected my intelligence. Despite everything, I still remain a young teenager filled with life. At home, we live one day at a time. Tomorrow is still very far for us. My life is in my parents’ hands. I have full confidence in them and we let God guide our way through life.
While, my condition continued to degenerate, the nature of my illness remained unknown. My neurologist strongly believed that we were dealing with a rare disorder. My parents also met with a doctor from Boston (USA). A part of my file was referred to Cleveland, OHIO for genetic research. In June 18th, 2002 and January 22nd, 2003, we met again with others specialized neurologist in Dystonia and Movements’ Disorders from Montreal (QC Canada) and at the Civic Hospital in Ottawa (ON Canada). They also weren’t able to pin point my disorder. I was put on trial medications to try to help control my involuntary movements and to give back hope to walk. Unfortunately, none have been successful.
My parents had to conquer several mountains to get me where I am today and who I became. But they never gave up although they were tired of living in the unknown. Meanwhile, life went on, one day at a time. Through my parents, I have been able to teach my entourage that it is important to look at life with the eyes of our heart. For my part, I remained always the young boy with the radiant smile, filled with dreams and worthy of hope and faith. I know that everyone was so proud of me. My mom and dad’s determination and perseverance, along with their courage to never give up, gave me strength to never let go and continue living.
On June 17, 2009, I underwent a surgical brain procedure that lasted 10 hours at the Toronto Western Hospital (Toronto ON Canada). The procedure was to implant electrodes in the deepest part of my brain. This procedure is known as "Deep Brain Stimulation" (DBS). The electrodes are controlled by a device implanted under the skin of my chest that is connected by wires. This intervention is meant to alleviate my spasticity and my involuntary movements. Following the procedure, it required numerous visits to the hospital for programming the device and follow-ups by the Movement Disorder Centre at Toronto Western Hospital. That year, from July to December, we had to travel to Toronto every second Monday. It was very hard on every one. I will require regular follow-up for programming for the rest of my life due to progressive deterioration of my medical condition. And I will need to undergo surgery every four to five years to have the battery change in my chest.
On June 27, 2011, I underwent another extensive surgery on both hips including bilateral varus derotation osteotomies, adductor releases, and psoas/hamstring/adductor myotomy on both sides. At the same time, there was an extensive administration of Botox injected to the muscles in my right leg. A hip osteotomy is a surgical procedure in which the bones of the hip joint are cut, reoriented, and fixed in a new position. Healthy cartilage is placed in the weight-bearing area of the joint, followed by reconstruction of the joint in a more normal position. I needed to have this intervention done because I had started to have difficulty to sit and to lie down for a long period of time. I had to be in a full body cast (Spica) for a month and had to deal with a significantly high level of pain.
Now, nearly fifteen years have passed since my first consultation with a neurologist. Unfortunately, irrelevant of the several tests and my deterioration, I still remain in the eye of the medicine “The Little Mystery Boy”.
In August 2011, we were one of the families chosen to enroll in the FORGE Consortium Research Project (Finding of Rare Disease Genes) through the Children's Hospital of Eastern Ontario Research Institute (CHEO) (Ottawa ON Canada). After ten months of waiting, on June 8, 2012, we finally received a diagnostic that will change our lives forever... I have Ataxia-Telangiectasia (A-T), more known as Louis-Bar Syndrome. Unfortunately, I don't have the classic form of this rare and complex genetic disorder. I have a diagnosis of a nonclassical form of A-T. This means that it is rarer than the classic form. Being that dystonia is my primary feature and that my Alpha-Fetoprotein (AFP) levels and Immunoglobulin were normal as well as my head circumference, the lack of telangiectasia and (masked) ataxia tells that I'm not following the combination of neurologic clinical features of classic A-T. Only my ATM gene (gene responsible for producing a protein that repairs DNA) shows a defect and both of my parents are carriers. My key symptom is an early onset, generalized dystonia. But the more we read and learn on this disorder, we recognize the common signs of A-T from when I was a baby till now... those signs that progressively robs my daily life. In other words, it means that my parents were part of the 1% of the population who were carriers of the ATM gene and together, they passed it on to me (AKA recessive). Roughly 500 children in the United States have it (AKA rare). It is fatal and there is no cure. I was just handed a death sentence. This disease is the reason why I'm losing my movement capabilities. It will eventually compromised my immune system and pulmonary function. I have a higher risk to develop leukemia/lymphoma. My parents sobbed harder then they ever sobbed before. They told me that every night when I was asleep, they let themselves fall into pieces. But by the time I woke up in the morning, they pulled themselves together and I had no signs that they had cried all night for me.
Every day is a challenge and a battle for me and my family but we are relieved in many ways to finally have an answer to the mysterious ailment robbing my life of my health and strength. Now, we will have to cope with the prospect of increasing disability and with more challenging and severe medical conditions.
Having said this, I will need to undergo a series of tests... again. My life is not going to get better so my family and I will need to find courage, perseverance and determination to face the unknown... again. We will really need to find ways to live one day at a time and to focus on the present. I don't know what tomorrow might bring us. We will have to do the best we can, one day at a time.
Near the end of 2012, another ailment showed up to add to the complexity of my needs. I would choked most of the time I would drink and sometimes eat. It was getting harder and harder to get the sufficient hydration. On December 6 of the same year, I had to have a PED-J Tube inserted in my abdominal wall. This procedure is call "Percutaneous endoscopic gastrostomy". I was really reluctant at first but now I am very happy about it. The good thing is I can still eat food by my mouth but all the liquids and medications are giving by the tube. That makes my life easier, especially for giving my medications. I don't have to endure that awful sense of taste in my mouth that I've been dealing with four times a day for the last 15 years.
The year 2013 went rather smoothly. I had only two interventions done. In February, I went to CHEO to have my PED-J Tube (temporary) checked and measured. My dad went and bought the new G-Tube, called Mic-Key Low Profile Feeding Tube, which replaced the temporary one. Let me tell you, while they changed it, I was badly in pain. They did it without local anesthesia. The Mic-Key needs to be changed 3 to 4 times a year.
In September of this same year, I underwent another intervention. Since my hips surgery in June 2011, I was living with a lot of pain. So twice a year since then, the Orthopedist Surgeon inject a big amount of cortisone in both my hips to release the pain. It's not always fun to live with pain.
Another year flew by so quickly. In January 2014, I had to have my wisdom teeth pulled out through anesthesia. I am so happy that my body recuperates really fast from any surgeries I had in my life.
In August 2014, I had all the "hardware" removed from both my hips. It was this that was causing all the pain since on one side, one of the screw was trying to pierce through my skin. At the same time, they did the reconstruction of my two big toes (crows feet). They were merged with a plate to prevent curving downwardly and causing the others to do the same. I was in cast for six weeks. But after the removal, I had to have an emergency surgery on my left foot. My dystonia is so strong that it broke the plate and screws. They put a larger one with more screws to make sure that it doesn't happen again. After being in a cast for almost three months, I am now able to wear shoes again, like my friends.
In June 2017, I finally graduated from High School at the age of 21. I was attending a regular high school but was accompanied by a full time teacher's aid. My courses were modified to meet my needs since I needed regular physiotherapy and I got tired easily. It was special since my sister graduated at the same time. It was very emotional.
I will be 22 soon and I continued to stay strong. I still need to go through multiple follow-ups in a regular basis in Ottawa and Toronto (ON Canada). I get botox injections every 3 months in my weak muscles to help minimize the spasticity and unvoluntary movements. I eat less by mouth and more through my G-Tube. And to top it all, I was just diagnosed with severe arthritis in both my hips. But the most important thing is that I am not going through all of this alone. I am lucky enough to be surrounded by people who love and cherish me for who I am and they don't give up on me.
Now, it explains why they called me "The little mystery boy"!
We need to build awareness of this horrendous disease and help fund the research so we can find a cure. We are racing the clock to save my life and of course the other children living this horrible nightmare.
Alexandre -xo-
Here is my journey...
My mother often tells me how proud she was to talk to me, to hum me a few songs and to caress me while I was still in her womb. She could not wait for the day when she could take me in her arms for the very first time. The pregnancy and birth were both without complications. I was born on April 10th, 1996. My father was so proud to see my little face. Within my first year, I helped my mom and dad discover the joys of being parents. But, at the age of fifteen months, my life took a different turn. God had already predetermined my fate and I was unfortunately on that list. This is the story that will help my parents grow and discover life in a whole new way. We must not forget the thousands of tears and questions asked along with the numerous battles we’ll have to face...
My parents described to me how I used to walk without any balance. My walking was wobbly, unsteady and I held my arms above my head for stability and keeping my balance. I would often fall and I was never able to ride a tricycle. In the beginning, my parents thought that it was normal since I had only been walking for three months. A short time later, they decided to consult a doctor. It was in May of 1998 that I met a neurologist for the first time. That appointment led us nowhere. He said that I was double jointed and with time, I would grow out of it. My parents didn’t agree, but trusted his opinion. I was still happy and full of energy. Four months went by. I was still unsteady, had limited speech and was still drooling. I was starting to show signs of fatigue after activities. My parents wanted a second opinion. I then met another paediatric neurologist. He immediately came to the conclusion that something was wrong with me. I was therefore referred to the Children’s Hospital of Eastern Ontario (CHEO) (Ottawa ON Canada) where my name was placed on an eighteen month long waiting list to meet with a developmental paediatrician. What really saved us was the mention of a well known organization for children, family and community services. We had the first consultation the following Monday. At the end of this consultation, I was immediately referred to the chief neurologist at the Ottawa Children’s Treatment Centre (OCTC) (Ottawa ON Canada). This is when the multitude of consultations, investigations and tests began. I underwent a series of tests that all came back with no trace of evidence. During this time, my parents were very concerned, worried, despaired and many tears were shed.
Several months went by. I met several other specialists. I underwent many more tests while my parents fought to get me the best care and services possible. All through this, my condition continued to deteriorate. It was during one of these consultations that our neurologist told us that I may have cerebral palsy. I had just turned three.
On March 12, 1999, my mother gave birth to my little sister, Gabrielle. Even though she is younger than me and despite our brother and sister disputes, she helps me a great deal all the time. She is my little angel and always will be.
In July of 1999, the Fondation Alexandre Deschamps’ Foundation was established. Funds collected allowed me to undergo hyperbaric oxygen treatments. Considering that these treatments are extremely expensive, my parents had to work hard with the help of others to raise money. They hoped that people surrounding us would respond to our call for help.
But as time went by, my physical health deteriorates. Walking without assistance had become nearly impossible for me. I would fall every three or five steps that I would take. It was then that I needed a walker and prosthesis because my feet began to turn inwards.
Since the first day, my parents asked God thousand of questions. But unfortunately, no answers were revealed. They never lost hope and continued this long road with me. Through their perseverance, they requested that we meet with specialists at the Hospital for Sick Children in Toronto (ON Canada) for another opinion. On November 9th, 1999, we went to meet three neurology and metabolism specialists. Again, they were unable to come to a clear diagnosis with respect to my symptoms.
During this time, the community and our relatives demonstrated their support and displayed tremendous generosity. I began my first series of hyperbaric oxygen treatments on November 20th, 1999. My parents said that I always showed courage and a positive attitude through this change of routine. For me, each day was like a trip in a rocket. But I did not travel alone. My dad or my grandfather was with me every day. Everyone was extremely proud of me and I demonstrated improvements. A ray of hope was more and more present. On February 21st, 2000, I began my second series of treatments.
Unfortunately, it was all too good to be true. Other major signs of deterioration manifested themselves. Doctors told us to stop the treatments. Something else was wrong with me, something that could not be helped with hyperbaric oxygen treatments.
During this time, at the Ottawa Children’s Treatment Centre (OCTC) (Ottawa ON Canada), everyone called me “The Little Mystery Boy”. It was obvious that something was wrong with me... my legs decided not to support me anymore and all those negative tests with no results. To this day, doctors were very puzzled. They were quick to realize that I probably did not have cerebral palsy. I was deteriorating too quickly. They then looked at other types of diseases, which were discarded from their list. Once again, I did not respond to what they were looking for. My blood works nearly made it around the world for research purposes. My mom and dad say that I am their little angel sent from Heaven... with a mission to accomplish!
My father lost his job after 25 years of service. He was declared surplus in April 2012. My mother still continue to work her full-time job. Even though they sometimes feel completely drained, they continue their fight for my life. They had to struggle long and hard, especially to obtain a custom wheelchair in a very short time frame. I have been confined to a wheelchair, five years earlier than predicted. For my parents, having to wait several months for the final product was not an option. It took only one hundred and sixteen days... from the day of the request to the day of delivery. My parents really amazed quite a few. They do not let anyone intimidate them. We must also remember that it was the same scenario of constant battles to obtain several services. Sometimes, they had to talk louder but in the end it paid off.
I started elementary school in September 2000. I was accompanied at all times by a teacher’s aid. I quickly adapted myself to this change. I developed complete confidence in her. I also was able to make new friends and found my inner child back. My tears were rapidly converted into happiness. People around me were extraordinary. They made sure that I was safe, that I expanded my horizon to my full potential and that I met the maximum of my capacities. One teacher once told my parents that I was a ray of sunshine and through my personal magnetism, I attracted people. To this day, I always find a way to smile, love to tease and have fun. Mom and dad had accepted the fact of seeing me in a wheelchair. Now the people around me are doing the same.
Even then, my parents were determined to take consultations to another level. On June 4th, 2001, my parents and I left for New York City (USA). It was the first time flying for my family. What an experience! We had an appointment scheduled on June 7th at the Institute of Neurology of New York. We stayed for four days. Again, they were unable to give a clear diagnosis of my condition. All they were able to say was that I suffered from a neurological progressive movement disorder. I understand the eagerness of my parents to find the nature of my illness. However, there is surely a reason why it did not want to reveal itself at that time. Mom and dad believe in destiny and they say that things always happen for a reason.
The above-mentioned symptoms continue to degenerate. But other symptoms have manifested themselves. I have several uncontrollable involuntary movements. I have more difficulty swallowing so I choke more often and my body is in constant contractions and twisting. I need to be under supervision at all times. I cannot dress, feed nor go to the bathroom by myself. My physical handicap has severely affected my gross and fine motor skills. My speech is not as clear as it was and I have difficulties controlling my saliva. I have become a prisoner in my own body. I'm aware of my condition since this disorder hasn't affected my intelligence. Despite everything, I still remain a young teenager filled with life. At home, we live one day at a time. Tomorrow is still very far for us. My life is in my parents’ hands. I have full confidence in them and we let God guide our way through life.
While, my condition continued to degenerate, the nature of my illness remained unknown. My neurologist strongly believed that we were dealing with a rare disorder. My parents also met with a doctor from Boston (USA). A part of my file was referred to Cleveland, OHIO for genetic research. In June 18th, 2002 and January 22nd, 2003, we met again with others specialized neurologist in Dystonia and Movements’ Disorders from Montreal (QC Canada) and at the Civic Hospital in Ottawa (ON Canada). They also weren’t able to pin point my disorder. I was put on trial medications to try to help control my involuntary movements and to give back hope to walk. Unfortunately, none have been successful.
My parents had to conquer several mountains to get me where I am today and who I became. But they never gave up although they were tired of living in the unknown. Meanwhile, life went on, one day at a time. Through my parents, I have been able to teach my entourage that it is important to look at life with the eyes of our heart. For my part, I remained always the young boy with the radiant smile, filled with dreams and worthy of hope and faith. I know that everyone was so proud of me. My mom and dad’s determination and perseverance, along with their courage to never give up, gave me strength to never let go and continue living.
On June 17, 2009, I underwent a surgical brain procedure that lasted 10 hours at the Toronto Western Hospital (Toronto ON Canada). The procedure was to implant electrodes in the deepest part of my brain. This procedure is known as "Deep Brain Stimulation" (DBS). The electrodes are controlled by a device implanted under the skin of my chest that is connected by wires. This intervention is meant to alleviate my spasticity and my involuntary movements. Following the procedure, it required numerous visits to the hospital for programming the device and follow-ups by the Movement Disorder Centre at Toronto Western Hospital. That year, from July to December, we had to travel to Toronto every second Monday. It was very hard on every one. I will require regular follow-up for programming for the rest of my life due to progressive deterioration of my medical condition. And I will need to undergo surgery every four to five years to have the battery change in my chest.
On June 27, 2011, I underwent another extensive surgery on both hips including bilateral varus derotation osteotomies, adductor releases, and psoas/hamstring/adductor myotomy on both sides. At the same time, there was an extensive administration of Botox injected to the muscles in my right leg. A hip osteotomy is a surgical procedure in which the bones of the hip joint are cut, reoriented, and fixed in a new position. Healthy cartilage is placed in the weight-bearing area of the joint, followed by reconstruction of the joint in a more normal position. I needed to have this intervention done because I had started to have difficulty to sit and to lie down for a long period of time. I had to be in a full body cast (Spica) for a month and had to deal with a significantly high level of pain.
Now, nearly fifteen years have passed since my first consultation with a neurologist. Unfortunately, irrelevant of the several tests and my deterioration, I still remain in the eye of the medicine “The Little Mystery Boy”.
In August 2011, we were one of the families chosen to enroll in the FORGE Consortium Research Project (Finding of Rare Disease Genes) through the Children's Hospital of Eastern Ontario Research Institute (CHEO) (Ottawa ON Canada). After ten months of waiting, on June 8, 2012, we finally received a diagnostic that will change our lives forever... I have Ataxia-Telangiectasia (A-T), more known as Louis-Bar Syndrome. Unfortunately, I don't have the classic form of this rare and complex genetic disorder. I have a diagnosis of a nonclassical form of A-T. This means that it is rarer than the classic form. Being that dystonia is my primary feature and that my Alpha-Fetoprotein (AFP) levels and Immunoglobulin were normal as well as my head circumference, the lack of telangiectasia and (masked) ataxia tells that I'm not following the combination of neurologic clinical features of classic A-T. Only my ATM gene (gene responsible for producing a protein that repairs DNA) shows a defect and both of my parents are carriers. My key symptom is an early onset, generalized dystonia. But the more we read and learn on this disorder, we recognize the common signs of A-T from when I was a baby till now... those signs that progressively robs my daily life. In other words, it means that my parents were part of the 1% of the population who were carriers of the ATM gene and together, they passed it on to me (AKA recessive). Roughly 500 children in the United States have it (AKA rare). It is fatal and there is no cure. I was just handed a death sentence. This disease is the reason why I'm losing my movement capabilities. It will eventually compromised my immune system and pulmonary function. I have a higher risk to develop leukemia/lymphoma. My parents sobbed harder then they ever sobbed before. They told me that every night when I was asleep, they let themselves fall into pieces. But by the time I woke up in the morning, they pulled themselves together and I had no signs that they had cried all night for me.
Every day is a challenge and a battle for me and my family but we are relieved in many ways to finally have an answer to the mysterious ailment robbing my life of my health and strength. Now, we will have to cope with the prospect of increasing disability and with more challenging and severe medical conditions.
Having said this, I will need to undergo a series of tests... again. My life is not going to get better so my family and I will need to find courage, perseverance and determination to face the unknown... again. We will really need to find ways to live one day at a time and to focus on the present. I don't know what tomorrow might bring us. We will have to do the best we can, one day at a time.
Near the end of 2012, another ailment showed up to add to the complexity of my needs. I would choked most of the time I would drink and sometimes eat. It was getting harder and harder to get the sufficient hydration. On December 6 of the same year, I had to have a PED-J Tube inserted in my abdominal wall. This procedure is call "Percutaneous endoscopic gastrostomy". I was really reluctant at first but now I am very happy about it. The good thing is I can still eat food by my mouth but all the liquids and medications are giving by the tube. That makes my life easier, especially for giving my medications. I don't have to endure that awful sense of taste in my mouth that I've been dealing with four times a day for the last 15 years.
The year 2013 went rather smoothly. I had only two interventions done. In February, I went to CHEO to have my PED-J Tube (temporary) checked and measured. My dad went and bought the new G-Tube, called Mic-Key Low Profile Feeding Tube, which replaced the temporary one. Let me tell you, while they changed it, I was badly in pain. They did it without local anesthesia. The Mic-Key needs to be changed 3 to 4 times a year.
In September of this same year, I underwent another intervention. Since my hips surgery in June 2011, I was living with a lot of pain. So twice a year since then, the Orthopedist Surgeon inject a big amount of cortisone in both my hips to release the pain. It's not always fun to live with pain.
Another year flew by so quickly. In January 2014, I had to have my wisdom teeth pulled out through anesthesia. I am so happy that my body recuperates really fast from any surgeries I had in my life.
In August 2014, I had all the "hardware" removed from both my hips. It was this that was causing all the pain since on one side, one of the screw was trying to pierce through my skin. At the same time, they did the reconstruction of my two big toes (crows feet). They were merged with a plate to prevent curving downwardly and causing the others to do the same. I was in cast for six weeks. But after the removal, I had to have an emergency surgery on my left foot. My dystonia is so strong that it broke the plate and screws. They put a larger one with more screws to make sure that it doesn't happen again. After being in a cast for almost three months, I am now able to wear shoes again, like my friends.
In June 2017, I finally graduated from High School at the age of 21. I was attending a regular high school but was accompanied by a full time teacher's aid. My courses were modified to meet my needs since I needed regular physiotherapy and I got tired easily. It was special since my sister graduated at the same time. It was very emotional.
I will be 22 soon and I continued to stay strong. I still need to go through multiple follow-ups in a regular basis in Ottawa and Toronto (ON Canada). I get botox injections every 3 months in my weak muscles to help minimize the spasticity and unvoluntary movements. I eat less by mouth and more through my G-Tube. And to top it all, I was just diagnosed with severe arthritis in both my hips. But the most important thing is that I am not going through all of this alone. I am lucky enough to be surrounded by people who love and cherish me for who I am and they don't give up on me.
Now, it explains why they called me "The little mystery boy"!
We need to build awareness of this horrendous disease and help fund the research so we can find a cure. We are racing the clock to save my life and of course the other children living this horrible nightmare.
Alexandre -xo-
"Alexandre, we strongly believe that you are an angel sent to us for a mission. You were put on our path to teach, us all, a lesson: to learn to see and love life with our heart. You make us discover things that we would never have seen without you. If someone is lucky to know or even to cross your path, that person has just been blessed with the most beautiful gift...an angel. Alexandre, you make us learn to appreciate every little thing life sends us, one day at a time. We are blessed to know that there are so many people who love you as much as we do. You are definitely not alone on this journey. You are surrounded by an extremely large family."
- Mom, dad and Gaby
- Mom, dad and Gaby
The real me...
"Just don't look at my legs not walking or not running;
Just don't see my constant moving body;
And most of all, just don't just fix your eyes on my wheelchair.
These broken pieces are not totally me.
See instead, the light in my eyes and my radiant smile;
See instead, my loving soul and my thinking mind;
See instead, the child within me that wants to bloom.
These inner pieces are the REAL ME."
My mom wrote this little poem for me in 1999.