« I might only be 19, but I'm already a very busy mother. I spend all of my time with Elena, my little princess... She has a neurodegenerative disease whose exact name and cause are not yet known.
My pregnancy was a completely normal one. Nothing hinted at the devastating news we would receive just after she was born. Elena was only two months old when a doctor noticed a delay in her development. That started a never-ending battery of tests and exams and the always-increasing anxiety of wanting to know 'what' and 'why'...
During one of these tests, our neurologist, Dr. Chrestian, noticed that our four-month-old daughter couldn't follow objects with her eyes. It was, unfortunately, one of the first signs that her brain was affected by the condition.
Although Elena is now two years old, she has never progressed past the developmental milestones of a baby who is a few months old. She cannot walk and will probably never speak. She needs help to eat. But she recognizes us and gives us the most beautiful smiles in the world!
Since the doctors told us that there would be no improvement for Elena, I make the most of every moment with my darling daughter. Every minute is a precious gift. I am assured that her illness does not cause her any pain. I want to believe this, because even if Elena is unable to express how she feels to me, I can see that she is happy.
Her illness, however, causes her an immense amount of fatigue. The more the disease evolves, the more Elena needs to sleep. In the words of one of the doctors, her fatigue is comparable to that of how a person who has just completed running a marathon.
Last September, I took part in a race organized for the benefit of the Foundation of Stars — I thought it would help me gain some understanding as to what my daughter experiences. What a challenge! Each difficult step I made in my daughter's honour, steps that she will never have the opportunity to take on her own... And I felt it: the fatigue that inhabits her life on a daily basis! I have no idea how she is able to keep smiling every day.
Elena takes medication to reduce muscle stiffness. Every week, she meets with a care team who monitors her physical comfort. Dr. Chrestian continues to follow her as part of a screening program for rare genetic conditions, a research project that you contribute to when you make a donation to the Foundation of Stars.
In just a few months, his team will be able to identify the gene involved in Elena's condition. These researchers are working hard to ensure that the hope my husband and I have of expanding our family stays alive.
That is why I am inviting you to donate to the Foundation of Stars, today and every day that you might have the chance. Soon, your generosity will help children, like my beautiful little Elena, to have the chance of growing up and knowing their future brothers and sisters.
**Thank you for giving hope to families like ours! **»
Mother of 2-year-old Elena, who suffers from a rare neurodegenerative disease
Although we refer to them as rare diseases, the fact remains that when classified together, 1 in 5,000 Canadians is diagnosed with one of these diseases - that is a significant number. In addition, 75% of these affect children...
Dr. Nicolas Chrestian, neurologist
The latest news on Elena and her family...
Today, the family's doing very well.
Last September, they found out what was wrong with Elena. Elena is currently the only one in Canada and also in many other countries to have this disease.This disease was only discovered in May 2019. After tests on myself and my partner, we learned that we were both carriers of the specific gene.
Elena will have a new and important role this summer as she’s being promoted to big sister in July 2020.
The disease that she has doesn’t even have a name yet as it is still so unknown. We only know that it is a gene on chromosome 9 that is affected. The gene AGTPBP1.