For Raphaël, the future comes one day at a time; the horizon beyond is impossible to know. Despite the challenges he’s faced since birth, he’s moving forward with unshakeable hope and courage.
Raphaël was born with spondyloepiphyseal dysplasia, a genetic condition that affects the growth of bone extremities. As a result, he is smaller than other children his age and needs to be monitored closely at Sainte-Justine.
The 11-year-old has undergone a number of surgeries in recent years. The most recent operation was particularly delicate and complex: performed on the cervical vertebrae, it aimed to correct an anomaly that threatened to damage his spinal cord and cause paralysis.
After being postponed once because of newly diagnosed diabetes, the operation was then interrupted a second time because Raphaël’s swollen larynx prevented safe extubating. The teams in intensive care discovered that he was suffering from laryngeal stenosis, a condition that narrows the upper airway. The surgery was successful, but a temporary tracheotomy had to be performed so that Raphaël could breathe while being extubated.
Raphaël’s bones don’t grow normally, which means he’ll likely have to undergo other operations during his life, and it will always be a challenge to anesthetize him because of his small larynx. Raphaël has been a real hero through all of this.
A unique case?
Dr. Philippe Campeau, a geneticist at CHU Sainte-Justine, has used a range of strategies over several years to try to identify the cause of Raphaël’s condition.
He and his colleagues combed through the medical literature but were unable to find a similar case of spondyloepiphyseal dysplasia anywhere in the world. “The P3H1 gene mutation seems to be the main culprit,” said Dr. Campeau. “But we don’t have all the puzzle pieces yet.”
Despite the challenges presented by the case, the team refuses to give up. A master’s student is currently analyzing Raphaël’s stem cells in the hope of finding a personalized treatment for him.
In cases like this, where answers are extremely difficult to find, your support is essential to sustain research and to find new therapeutic approaches—some of which may lie in precision health care. This is one of the main priorities of our Grow Beyond campaign.
Our hope is to learn more about what lies ahead for Raphaël, and maybe one day find a treatment that will help him grow and allow him to have a life like other kids his age.
It takes a village
Raphaël is fortunate to have an exceptional care team behind him. Through the Amputation and Musculoskeletal Lesions Program at CHU Sainte-Justine’s Centre de réadaptation Marie Enfant (CRME), he is treated by a physiatrist, orthopedists, a physiotherapist, an occupational therapist, a nutritionist, a psychologist, and a social worker. Thanks to your generosity, this multidisciplinary team is able to provide him with the best possible quality of life.
Raphaël also has access to state-of-the-art equipment at the CRME’s Technopôle, much of which has been acquired thanks to the support of donors such as the Claudine and Stephen Bronfman Family Foundation and Opération Enfant Soleil.
With you by his side, Raphaël is moving toward his future one step at a time. Soon he’ll be going off to high school, ready to enter a new stage of his life. Thank you for supporting research and making a huge difference for families like his!
© Arianne Bergeron