Xavier Barthe (9 years old)
Born November 7, 2006

4H Syndrome

My name is Xavier and I am a young boy who loves to have fun. I like playing with my sister Léanne and my cat Rigolo. At my school, I have friends and I like participating in class. I am like all of the other boys around me even though my story is quite different.

I am the oldest child in my family. My parents were so excited when I was born. At just a few months old, they noticed that I wasn’t as strong as other babies and that my motor development was lacking. Regardless, when I began walking at 2 years old, my physiotherapist and doctor reassured my parents that everything was fine and that I would be back to normal. I continued to have motor development delays. I progressed slowly and with a lot of effort. In February 2013, I caught a flu that caused me tremors and impeded me from walking for several days. I went to the hospital and an MRI revealed that I suffered from an incurable degenerative disease. Since then, we try and enjoy all of life’s beautiful moments and understand that hope is essential to our happiness.

Xavier

Jasmine Daigneault (19 years old)
Née le 23 mai 1997

Aicardi-Goutieres Syndrome

We would like to introduce you our daughter Jasmine, who is 19 years old. The orphan disease of our eldest daughter, Jasmine, was discovered after 14 years visiting several specialists: Aicardi – Goutieres is a degenerative genetic disease in the Leukodystrophy group. The affected gene was discovered in 2007 as the origin of her disease.

Some children with Leukodystrophy die very young and some live longer. For these children and their families, new research gives us hope for a better future. Leukodystrophy research must continue for those who have an identified syndrome like Aicardi-Goutieres and also for those still undetermined. We thank the Leukodystrophy Foundation for its significant involvement in research.

Loiselle Daigneault Family

Lyne et Alain

Jasmine, 19 years old

Alice, 11 years old

Christina Fournier Proulx (22 years old)
Born March 14, 1994

Undetermined type of Leukodystrophy

Mathieu Garant (34 years old)
Born September 28 1981

Undetermined type of Leukodystrophy

Olivier Gonthier (19 years old)
Born January 8, 1997

4H Syndrome

Dear Olivier,

As a child, you were a sweet litlte guy full of life and curious about the world. Third born of four children, disease has always been apart of your life. When you were younger, you hung around your older brother, who also suffers from Leukodystrophy. You were a spirited little guy. You walked at 12 months and climbed everywhere. You were a playful and healthy litlte boy until you were 6 years old. In Grade 1, you started to suffer from tremors and we noticed that you had trouble with your fine motor skills. At this moment, my heart sunk and I suspected that you also had Leukodystrophy. I only saught help five years later trying to convince myself that there were other reasons behind your problems. When you were diagnosed after an MRI, the world stop yet once again. You refused to tell us about it for a year. You didn’t talk about it. You saw the way the disease ravaged your brother and you were scared. Regardless, you were stable. Doctors didn’t understand why your disease didn’t progress at the same rate as your brother’s. You are 19 years old, the same age as when your brother left us. William was severly handicapped but you can still walk and run. You eat and you can do just about anything physically. You unfortunately have learning difficulties, attention problems, and difficulty getting organized, but you are still a happy and playful boy. We hope that we find a treatment in time to beat this horrible disease. Don’t let go, my boy!!!

Karine Labrecque (24 years old)
Born October 7, 1991

Undetermined type of Leukodystrophy

Jimmy Lajeunesse (22 years old)
Born December 11, 1993

Undetermined type of Leukodystrophy

Frédéric Leblanc (13 year old)
Born June 3 2003

HEMS Leukodystrophy

My name is Frédéric. I am a happy boy who always smiles. I go to school and I have a lot of friends. I love my brother and also my amazing parents. Unfortunately, I have a disease and I don’t know what is happening. I can’t walk, I tremble a lot, and I have difficulty speaking. I love life and I know that my doctors are working hard to cure me.

Please help me by donating to the Leukodystrophy Foundation. Maybe one day I will be cured.

Frédéric

Éli Lechasseur (10 years old)
Born March 9 2006

Undetermined type of Leukodystrophy

Hello,

My name is Éli and I was diagnosed with Leukodystrophy at 5 months old. It was a huge shock for my parents and family. I appeared to be a normal little boy. But this disease has stricken me with severe developmental delays: I can’t speak, I can’t walk, I can’t sit or stand on my own (due to a lack of strength).

Regardless, my state is currently stable. I communicate with my parents via sound, gestures, with my eyes, and most importantly with my beautiful smile, as my parents would say.

I have Pelizaeus-Merzbacher disease. Specialists are still researching because the cause of the condition is still unknown.

Thank you for helping with the research,

Éli

Martin Parise (41 years old)
Born January 11 1975

CACH Syndrome

Martin has suffered from this disease since birth. This form of leukodystrophy that Martin suffers from evolves very slowly and allowed him to finish high school and even drive a car.

At 20 years old, Martin was bound to a wheelchair because his motor problems worsened and prevented him from walking normally. Moreover, the evolution of his illness causes him speech problems that prevented him from communicating properly.

After doing years of research, we went to the Maryland Neurological Institute in Bethesda where Martin had a brain biopsy. The samples were then sent to France, which then confirmed his CACH syndrome diagnosis.

There is so little research being done on this disease. I want to do something for my son, so that I can keep him.

Please help me,

His mother.

Clément Poirier (9 years old)
Born January 1, 2007

Allan-Herndon-Duddley Syndrome

Hello,

My name is Clément Poirier and I have Allan-Herndon-Duddley syndrome. This syndrome causes a lack of myelin in the brain which results in an enlargened central hypotonia. I can’t speak, I can’t walk, and I have been fed by a tube since my early years. Yet I am always cheerful and I like to make my two sisters laugh.

Thanks!

Gabriel Rola (14 years old)
Born April 17, 2002

Undetermined type of Leukodystrophy

Alexis Verville-Tailleur (16 years old)
Born October 23, 1999

4H Syndrome

Around 2 years old, Alexis began to experience mild balance problems. We found that he didn’t run the same way as other children his age. At his yearly check-up with his pediatrician, we talked to him about it. He told us that it was because of the overflexibility of his joints. (hyperlaxity)

He referred us to an orthopaedist who found nothing.

We were not unduly worried nor did we doubt anything. But Alexis still stumbled ungracefully as he ran which led us to see a neurologist to get to the bottom of it. The first neurologist we saw told us that everything was normal. As nothing improved with time, we finally saw Dr. Michel Sylvain who noticed his hyperreflexia (too strong reflexes) and recommended he undergo an MRI.

December 9, 2002, when Alexis was only 3 years old, the MRI discovered that he suffered from leukodystrophy. Unthinkable news. They told us that our little child who was full of life and love would progressively lose his abilities, die young—at best around twenty or thirty years old, in such conditions…

At that time, he had only minor motor delays. It was almost inconceivable that it could be true. But what was supposed to happen, happened. He has since lost a lot physically: tremors, uncoordination and imbalance... and nevermind his vision... And yes, his optic nerve has also been affected. His glasses do not fully correct his vision, so he has to just live with his handicap.

Ariane Boudreau
Born September 21, 2011 – Died April 4, 2014

Metachromatic Leukodystrophy

Ariane Boudreau was the first of twin girls born on September 21, 2011. A little devil at times, she always protected her twin sister Jasmine. Unfortunately, she died on April 4, 2014 from Metachromatic Leukodystrophy. She is now an angel watching over her parents, brother and sisters.

Jasmine Boudreau
Born September 21, 2011 – Died April 9, 2014

Metachromatic Leukodystrophy

Jasmine Boudreau was the second of twin girls born September 21, 2011. A little devil at times, she was always an accomplice to her twin sister Ariane. She unfortunately joined her sister on April 9, 2014, and died from Metachromatic Leukodystrophy after spending 5 days in the hospital. She waited to see her entire family before leaving us. She is also now an angel watching over her parents, brother, and sisters.

Janie Dupuis
Born December 28, 1981 – Died April 17, 1994, at 12 years old

Metachromatic Leukodystrophy

When Janie was young, you never could have imagined that she had a disease. She was strong, soft, affectionate, loved playing, laughing, and having fun with others. We never saw her run but she began walking and talking at a very young age.

When she was about 17 months old, Janie began squinting, which lead us to go see a paediatrician and then an ophthalmologist, to confirm that it wasn’t due to poor vision and that it was likely from a lack of oxygen at birth. A few months later, we noticed that she lacked balance and coordination when she moved. She experienced difficulty walking, sitting, and standing. They suggested physiotherapy, which she did for five months.

At the very beginning of her second year, her condition worsened and we noticed a loss of autonomy every day, so we consulted more specialists. After several rounds of tests with neurologists and geneticists at the Sainte Justine Hospital, on February 19, 1984 doctors Guy Geoffroy and Serge Mélançon confirmed that Janie had Metachromatic Leukodystrophy. They told us that it was serious and hereditary…what a result! We were devastated and at the same time, we wanted to learn more about it. We were then told about the degenerative effects of this disease and the likelihood of her early death.

During her hospitalization, she lost the ability to speak (at two years old) and other problems soon followed. The years went by and the disease took control of our little girl. She lost all autonomy and her condition required constant care. She had great difficulty swallowing, which caused secretions.

She left us on a beautiful Sunday in April at the age of 12 with one of her most beautiful smiles.

Michelle Dupuis
Born January 16, 1984 – Died February 24, 1996, at 12 years old

Metachromatic Leukodystrophy

Our dear Michèle had no signs of anomalies and showed no symptoms of this serious disease at her birth. We couldn’t have known what lie in store for our beautiful little girl in the days to follow. When she was very young, she was a sweet, chubby, and energetic little baby, but at about 18 months old, we noticed that the disease began to take over.

Just like her sister Janie, she began to squint, her little hands closed up, and we noticed that she was uncoordinated. When she was around 21 months old, she had great difficulty walking, and shortly thereafter, couldn’t walk at all. Her nieces and nephew, as well as her aunt, tried to stimulate her a lot. They played with her, talked to her, and they tried to help her walk everyday. They had to assist her with even the tiniest movements. Even with all of her hard work, she lost complete independence and she could no longer function on her own. She could not even eat on her own.

In order to verify our fears, we underwent testing with the help of doctor Geoffroy who finally confirmed that Michèle had Metachromatic Leukodystrophy. While we had hoped that Michèle would be healthy, it turned out that she carried this defective gene as well. At that time, we had two daughters, who were only two years apart, with this terrible disease.

Just like her sister, Michèle’s symptoms were strangely similar and many of her vital functions were affected. Our days were limited to sitting them in wheelchairs, feeding them (by syringe or with purees), washing them, burping them each time they swallowed something, helping them exercise with the support of a specialized teacher and physiotherapist, etc. Every six months, an occupational therapist came to our home to assess her needs with regards to the disease’s progress.

This serious degenerative disease causes problems with motor development, breathing, swallowing, and speech. It also causes blurred vision. They also had to suffer through all the little colds and flus just like so-called healthy children

Activities were limited during this period; we weren’t able to drive too far with them by car, because they had secretions, which often caused them to choke.

Michèle left us very suddenly. One Saturday in February, when she was 12 years old, our little angel left us to go find her sister.

During those years, Janie and Michèle brought us small but all too fleeting moments of happiness. We can’t forget their pain and suffering and especially how quickly their condition worsened. Today, our only consolation is to know that they are no longer suffering and that they are always right behind the door…

Fjora Gareau (7 years old)
Born April 27, 2009

Leukodystrophy, type undetermined

William Gonthier (21 years old)
Born April 25, 1995 – Died October 14, 2014

4H Syndrome

My Dear William,

We were so happy the day you were born. You were our second child in a family of four: you had an older sister and two younger brothers. You started having tremors at a year old and didn’t walk until you were 22 months old. Your doctors told us at this point about a mild cerebral paralysis. You began treatments in physiotheraphy, ergotheraphy, and orthophony and you began to life the almost normal life of a little boy. However, at 6 years old, your state deteriorated and after we met with your neurologist, we received the diagnostic that would change our lives. Our beautiful little boy suffered from leukodystrophy. Everything fell apart around us. This disease would take away everything that you worked so hard to achieve and you were going to die. You provided us with an important life lesson because of your remarkable personality. Always in a good mood, you were an example to everyone you met. Whenever your health allowed, you went to school. You loved being around friends and nobody could resist your charm. Your disease was very challenging but you never complained. You left us October 14 2014 at 19 years old. The last few years, you were a prisoner in your own body. You couldn’t even move your hands. You were often hospitalized and even in the midst of pain, you were always smiling and happy until your death. We love you, William, and we will never forget you. Please look out for your family, especially your little brother Olivier who, in 2008, was diagnosed with the same disease as you.

Your mom Johanne, Dad Martin, Audrey, Olivier, and Matthew

Christopher Lajeunesse Perrier
Born June 16, 2004 – Died September 17, 2009, at 5 years old

Metachromatic Leukodystrophy

Shawn Lajeunesse Perrier
Born October 19, 2005 – Died May 15, 2007, at 18 months old

Metachromatic Leukodystrophy

Pascale Lepage-Poirier
Born July 11, 1996 – Died March 4 2000, at 3 ½ years old

Metachromatic Leukodystrophy

Étienne Perroud
Born December 28, 2012 – Died March 21, 2016

Metachromatic Leukodystrophy

Dear Étienne,

You were special and unique just like your life was. We thank life for having you as a family member.

Three years old is young, but you were the person who touched our lives the most. You were a great gift to us as you helped bring out the best in us and pushed us to become better people.

Three years old is young, but now you are wiser than all of us. You know what we do not.

We love you and we must let you go, but we will always have an everlasting memory of you as a smiling and determined little boy. You always knew what you wanted or didn’t want. How many times did you hit your head on the floor to show that you didn’t agree with us?! It was never a good idea to close the door on you or impose anything upon you.

You loved vanilla yogurt, bananas, and, of course, chocolate. We will also never forget your little chocolate ritual: you’d close your eyes and smell it passionately before eating it. You made tasting it worth your while.

Three years is short, but you had a life full of affection, love and, of course, challenges. You were perseverant and your faced beamed with pride when you overcame your challenges.

Three years is short, but you still experienced love. You loved your older brother unconditionally and that was, and is still, reciprocal. You would have followed him to the moon and back had he asked you.

You loved animals, especially cats. Our cats watched over you until the very end by snuggling beside you.

Now, we must learn to live without your physical presence and without your smile lighting up the lives of everyone you encountered. We cannot see you anymore but you will always be a part of this universe in another form. Nothing is lost, nothing is created: everything changes.

Three years old is young, but you were able to touch the lives of many people, not because of your condition, but because of your charm as an adorable little boy. Between all of your family members, the amazing teachers at CPE Marie-Lune, and everyone who saw you grow up during their loving care; nobody could resist “the world’s most beautiful smile”, as your brother Gabriel so fondly describes.

Thank you Étienne for three unforgettable and wonderful years. We love you dearly and you will be in our hearts forever.

Dad, Mom, and your big brother

P.S. When you eat chocolate, close your eyes and take time to smell it in Étienne’s memory.

Daniel Pratte
Born September 7, 1992 – Died June 13, 2004, at 13 years old

Adrenoleukodystrophy X-Linked (ALD)