A new syndrome…
Multiple spondyloepiphyseal dysplasia. “Multiple” includes hearing, visual, physical (proportional dwarfism, scoliosis, dislocation of both hips, arthritis), neurological (peripheral and sensory neuropathy) and metabolic (hypoglycemia, growth hormone deficiency and cortisol deficiency) impairment.
I am currently undergoing genetic treatment at Sainte-Justine Hospital in Montreal. A researcher is on my case and has identified the defective gene that causes my medical condition. However, even though the diagnosis was established at a young age, it is still unknown. There are 3 of us with this disease in all of America. We don’t know if there are any in the world, which complicates the search a little. I was stunned to learn while building my family tree that the other 2 people are, in fact, my 2 distant cousins. I’ve traced our common ancestor. It was quite a revelation; I felt less alone and I saw it as a mission: to understand my origins, my illness…
In the photo: Marie-Josée and Lisa.