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 […]
A spirit of steel in a body of glass I have osteogenesis imperfecta (OI) type 5. This type was found in our family about ten years ago. There are about 6 cases in Quebec. From birth to around age 7, our bones are very fragile. From the age of 7 until the end of growth,
Small but go-getter! My name is Carolane, I’m 19 and I have Silver Russell syndrome. I have an orphan disease. The hardest part is finding a job. My short stature of 138 cm gives me a lot of trouble with that. But that doesn’t stop me from having my car, which is not modified, by
A full life… and counting! My name is Patrick Tanguay and I have Morquio disease, just like my brother. I’d like to share my story because I believe it can help people with this disease, or their parents. I’m 38, married and have a job I love. My illness has never prevented me from living
Smiling Maélie Maélie was born with PHACES syndrome. Since her birth, she has seen a dozen specialists at CHU Ste-Justine and undergone numerous tests: cardiac ultrasound, laryngoscopy, MRI, CT scan, X-ray, hearing screening, eye exam, physiotherapy, dermatology, etc. Despite all the difficulties she encounters, she always keeps a smile on her face. Maélie is our
Élodie is still smiling Nine-year-old Élodie was diagnosed with Morquio disease type A in November 2006. She underwent three surgeries: cervical fusion, surgery on both hips and, finally, on both knees. She’s still smiling…. Morquio disease or syndrome Mucopolysaccharidosis type IV (two forms: A and B) MPS-IV Morquio disease is an inherited, progressive disorder
Olivier, the only one with his disease in Quebec CINCA syndrome (chronic, infantile, neurological, cutaneous, articular) is characterized by a skin rash, joint involvement, chronic meningitis, sometimes deafness and ocular manifestations! The disease is inflammatory in nature. Almost every part of the body is affected by inflammation, including the neurological system, liver, spleen, joints and
Congenital adrenal hyperplasia Although my first pregnancy and delivery went well, the return home was difficult; Thomas regurgitated a lot and lost weight…until one day he couldn’t keep anything down, even a few milliliters of water! He was vomiting in spurts and crying a lot, he was amorphous and his skin had taken on a
When the sun hurts… Jean-Michel, aged 10, suffers from congenital erythropoietic porphyria. Because of this illness, he can’t play outside. Porphyrins in red blood cells from bone marrow and plasma are deposited under the skin, causing severe cutaneous photosensitivity to all UV rays, including sunlight, fluorescents and heat. When the skin is exposed, it can
Amanda the fighter Little Amanda has exceptional grandparents who have set up the Amanda-Raymond-Lamoureux Foundation for DiGeorge Syndrome. In January 2007, just as I was about to experience one of the most beautiful moments in the life of a future grandmother, I received some terrible news, one of those pieces of news that you never