Life with a different child Fragile X syndrome Montréal, February 27, 2011 I’m the mother of two children, one of whom is an 8-year-old boy with Fragile X syndrome. We were diagnosed relatively early, at 20 months, following several neurology appointments at Hôpital Ste Justine. This syndrome is still relatively unknown to health professionals […]
Félix, our “little” happiness On the occasion of International Rare Disease Day 2011, we’d like to share with you a letter written to our son Félix, who will be 2 in April and suffers fromhyperchylomicronemia. It’s been almost two years, Felix, since you changed our lives forever. You are a daily ray of sunshine
The challenge of the 18th Congenital hyperinsulinism This year marks our 18th year living with a rare disease. Rare Disease Day is the perfect time to highlight a new challenge facing us all: changing GPs. Our daughter Catherine’s transition from hyperinsulinism to adulthood means she can no longer be cared for at the children’s
Zackaël and Mitochondria Progressive External Ophthalmoplegia ( Mitochondrial myopathy with DNA2 gene mutation) Zackaël is the baby of a family of 3 children. A little darling who was sleeping through the night from birth. A little tocson, a playful baby. But something worried me. Zackaël was full of ganglions in his groin, under his arms,
Life is beautiful, but health is fragile… Hereditary spastic ataxia with a dominant gene (Magdalen Islands). “Hello, I’d like to encourage you to enjoy the present moment without thinking about the past. I used to be a speech therapist (and CHSLD care worker) who loved all sports. One day on my 28th birthday, a fortune-teller
“Hello, I’m writing to you today to tell you about my daughter Skye. A smiling, blue-eyed little girl diagnosed on December 20 with POLYMICROGYRIE and SCHIZENCÉPHALIE. Skye’s adventure is still in its infancy at just 19 months old, but we’ve already experienced a lot of highs and lows, victory and defeat, sorrow and joy. It