A generous donor, Mr. Rémi Gilbert of IG Heritage Management has committed to doubling all one-time and monthly donations to a maximum of $25,000. Thinking of contributing on a monthly basis? Your first 12 payments will be doubled! Make this essential gesture for sick children. Please come here to make a donation. Discover below the moving testimony of Bianca, the mother of Zachary, Jeremy and Eliane.
My name is Bianca. I am the mother of three wonderful children, two of whom suffer from an almost unknown neurodegenerative disease. Two out of my three children. What are the chances, you ask? I have no answer…
The disorder contracted by my little loves is already a rare disease. To make matters worse, the gene mutation that is the cause for them, is even more rare. To my knowledge, there is no other child who has it in Canada. And I only know of three cases in the United States.
Still, 50,000 children in Quebec suffer from a rare disease. When they are tallied together these “isolated cases” represent the entire population of the city of Rimouski!
For my son Jérémy, 13, and my daughter Éliane, 7, who is more affected than her brother by the condition, the disease manifests itself in neurological disorders, including stiffness in the legs, difficulty moving and immense fatigue. We do not know how the disease will evolve, but almost all their organs and vital functions could eventually fail. We can alleviate some of the symptoms for the moment, but right now, there is no cure for my children.
I am telling you our story today so that you better understand how your support for research on rare diseases can change everything in the life of a family like ours.
Although our first child, Zachary, was spared from our unlucky genetics, he too has had to deal with the aftermath of this disease. My lovely boy, now 14 years old, grew up long before his time, supporting his brother and sister on a daily basis, while accepting that mom and dad simply don't have as much time for him.
Jérémy, our second son, was born in 2007. Such an easy-going, smiling child! He walked late, because he was clumsy and rather slow. We thought it was related to his temperament. At the age of 7, his right foot began to turn inward. Then he began to have difficulty climbing stairs, became unable to run and was falling all the time. Medical appointments and tests followed one after another, without being able to find what was affecting him.
Jérémy became less and less mobile, his hands trembled when he ate or wrote, and it became more and more difficult for him to make it to the bathroom without having an accident. I watched my son deteriorate—I felt helpless, with no understanding of what was happening. No child should have to experience this.
My beautiful baby girl was born in 2012. Around the age of 2, when Éliane had to take her first steps and walk, she had no coordination, no balance, and lacked energy. During a visit to the hospital for Jérémy, a doctor asked to examine my daughter. Expressing concern, she immediately referred us to a neurologist. Our world collapsed for a second time.
The lack of answers was terrible. Imagine seeing your children with disabilities without being able to explain the cause. A diagnosis is needed for treatment. How do you hope to cure a disease when you don't know what it is?
It was only three years later, after sequencing the genes of our children, that we gained the information: Jérémy and Éliane were diagnosed with a peroxisome biogenesis disorder, with a mutation of the PEX 16 gene. We might now know the name of disease, but the battle is far from over.
I remember going to the hospital to receive the diagnosis and coming out feeling completely changed. What was I going to say to my children, to whom I had promised a solution to everything? What would I say to my son who wants to become a physical education teacher, to my daughter who dreams of becoming a ballerina? How was I supposed to deal with my fear of losing my children? I might have left my innocence behind in that office that day, but my trust in life never left me.
When the diagnosis was announced, we were told that every little child who lives with this disease has their own personal challenges as a result of the daily battles imposed upon them by their bodies. Right now, we know almost nothing about the disease, we have no means of comparison, we don't know what will happen next.
When we were told that there was no cure for our children at this time, we began to understand the incredible importance of research. And, we vibrate with the hope that it brings us. The hope of seeing Jérémy, my sportsman who still wins swimming medals, make his dreams come true! The hope of seeing Éliane get out of her wheelchair and start figure skating—an activity that she has always wanted to enjoy!
But in order to progress and win the battle against this disease, it takes people like you. People who support the dedicated and tireless researchers who are dealing with the unknown. Because each small step on an unexplored path can open new horizons for children like mine who are living with diseases that still have no cure.
Together, we can make my children's disorder a treatable one. Support the Foundation of Stars today by making a donation that will be worth twice as much, thanks to our generous donor who is doubling your contributions!
My family and I sincerely thank you for your support and generosity. Thank you for nurturing the hope of a better future for the thousands of children who live with rare diseases throughout Quebec."
Mother of Zachary, Jérémy and Éliane