Rare Disease Day

Nicolas is 11 years old. He lives with a rare orphan disease called FoxG1 syndrome, a genetic condition that affects brain development. This disorder causes significant neurological and cognitive impairments, as well as global developmental delays. Nicolas uses a wheelchair. He is non-verbal and experiences involuntary muscle contractions that result in repetitive, uncontrolled movements. He also struggles with severe sleep disturbances, is primarily fed through a gastrostomy tube, and lives with refractory epilepsy that remains difficult to control despite medication. 

Despite these significant challenges, Nicolas has a personality that naturally touches everyone who meets him. His laugh is, to us, the most beautiful sound on earth. His smiles, his gaze, and his gentle little touches leave a mark on every person he encounters. Nicolas is also fortunate to have three younger sisters who adore him. They are growing up alongside him, developing a depth of sensitivity that few children acquire so early in life. 

Nicolas’ early years were extremely intense and difficult. He cried almost 24 hours a day throughout his first year of life. At just four months old, exhausted from constantly worrying about my baby and repeatedly being told I was experiencing postpartum depression, I finally brought him to the emergency department at Sainte-Justine. Nicolas was quickly admitted for testing. That was when we learned he had brain abnormalities and that his life journey would be far from simple. 

Sleep, or rather, the complete lack of it, was one of the hardest parts. Nicolas never slept more than two consecutive hours, and this went on for years. He would become so exhausted that he would cry for hours without stopping. On top of that, he suffered from severe constipation, causing intense pain and triggering even more prolonged crying episodes. Because he is non-verbal, we could never truly know what was hurting him, which often led us back to the emergency room, desperately searching for answers. 

Over time, thankfully, we learned to understand him better, to recognize the signs of discomfort and find ways to relieve him more quickly. But the challenges remain significant. Nicolas’ epilepsy is refractory to medication, and he can experience up to three absence seizures a day. 

In our life, there is no room for spontaneity. With a child who has complex medical needs, every action must be planned, every outing carefully considered, and a very precise routine must be followed to ensure things go as smoothly as possible. 

Even a simple outing requires full preparation: packing a bag with diapers, extra clothing, feeding supplies, medications, syringes, nothing can be forgotten. Now that Nicolas is older, another consideration has been added: making sure in advance that wherever we go has a safe and dignified place to change him. 

Because of this reality, one of us often stays home with Nicolas while the other takes the girls to activities. It is never an easy decision, but it has become our way of balancing everyone’s needs, even if it means fewer moments together as a whole family. Over time, this brings a great deal of guilt, guilt about not being able to be everywhere at once, about prioritizing one child’s needs over another’s, about missing certain family moments. And also guilt for sometimes feeling tired or needing a break. 

We began receiving services from Le Phare when Nicolas was three or four years old. 

Le Phare has been, and remains, the most precious resource for our family. It is a place where we feel understood, supported, and never judged. We mainly use the respite services. When Nicolas goes to what we call “his vacation camp,” we are able to spend meaningful time with our daughters and enjoy special activities without the stress and pressure that usually accompany our daily life. 

These respite stays allow us to rest, not only physically, but especially mentally, because the team at Le Phare takes on the heavy mental load related to Nicolas’ care. For a few days, we have the opportunity to simply be parents again… or almost. 

We have also met with one of Le Phare’s social workers on several occasions. Her support was essential when, at the age of seven, we had to make the difficult decision to proceed with Nicolas’ gastrostomy. 

Thank you to Le Phare for your essential support, which brings true comfort to our family. Thank you for your kindness and gentleness toward Nicolas. You make a real difference in our everyday lives.