Guelph Ont. Mother Raises Awareness Of Rare Child Alzheimer S .

However, unlike most children, Joseph has a rare genetic metabolic condition called Sanfilippo syndrome, commonly referred to as “Childhood Alzheimer’s”. “[Children with] Sanfilippo syndrome, their brain starts to go away, like dementia,” said Francine Saliba, Joseph’s mother. “Say they’re walking and talking for a minute, and then, like with Alzheimer’s, they start to lose their memory, their physical function, their speech, everything. Until they pretty much die.” People with this disease lack or have a malfunctioning enzyme that the body needs to break down the molecules in our cells. “These are long chains of sugars or carbohydrates in our cells, and they help build bones, cartilage, tendons, skin and connective tissue,” explained Kim Angel, executive director of the Canadian MPS Society, an advocacy group for people with MPS. this condition. “It first affects the central nervous system, so the brain and spinal cord.” Life expectancy for people with Sanfilippo syndrome is between five and 15 years. “When I learned that the average age of these children, I felt like I had a heart attack. That was it, I’m losing everything, all my dreams. All I wanted was to have a family,” Francine said. “I can’t see my son grow up, I can’t see my son graduate, I can’t see him get married, or anything like that.” Francine said that when Joseph was born he was very advanced for his age. He said his first word at three and a half months and started walking at nine months. However, at the age of one, Joseph started getting chronic ear infections. “We notice that he started to decline in his verbal skills and his learning skills every day,” Francine said. Francine said for two years, she took him to several doctors to figure out what was wrong with him. Finally, after seeing a geneticist at McMaster, she was diagnosed with Sanfilippo at age four. “The main signs for these children are a protruding abdomen, a hernia. And then also very strong facial features, so she has a dominant nose, dominant lips,” Francine said. About one in 70,000 people are diagnosed with this disease. There is no treatment. There is currently a trial underway for gene therapy, which could help extend life. “Gene therapy would basically allow the body to start producing the enzymes on its own, and thus stop the progression of the disease,” Angel said. However, the test is only available for children under the age of two. “What happens is around three years old, the growth segments start to decline rapidly. Thus, gene therapy cannot restore this developmental segment. It cannot rebuild neurocognition or the damage already done by this disease,” Angel said. “If it can be administered before the age of two, the damage is not as bad.” When Joseph was diagnosed with the condition, he was too old to start gene therapy. Francine now wants to raise awareness for Sanfilippo, “that way it’s not too late for other parents.” Her hope for her son is for him to live a long life and she said she is grateful for every day she gets to spend with him. “That’s all I can do, is just give it my best, every day. It’s my little sunshine.”