It all started when Caroline noticed that 4-month-old Tommy couldn’t hold his head up on his own. Her pediatrician thinks that it’s just a slight developmental delay, but the more Tommy grows, the more his motor difficulties multiply. He can neither sit upright nor stand to try to walk like other children.
More than 12 years have passed, and Tommy still has no diagnosis.
His case is far from isolated. It is estimated that 50% of people with rare diseases live without a diagnosis. This means that patients and their families live in complete uncertainty.
“There is one question that has haunted me for years: What is Tommy’s life expectancy? It haunts me not knowing ”– Caroline, Tommy’s mom
Powerless in the face of disease progression
When Caroline takes Tommy to see a specialist in genetic rare diseases, he warns her to expect that her son will progress until he is 10 years old and then start to regress.
In March 2019, Caroline noticed that her son often asked her to repeat what she said. She took him for hearing tests. They showed a significant hearing loss. This result really shocked Caroline. Since then, Tommy’s doctors have noted that his disease has progressed.
“Tommy has new conditions coming up all the time, and that’s something scary, especially when you don’t have a diagnosis”
“Tommy has new conditions coming up all the time, and that’s something scary, especially when you don’t have a diagnosis”– Caroline, Tommy’s mom
A crying need for support
Caroline says that she needs more help. Being directed to the right people, having information about the tests available, in Quebec or elsewhere, would make all the difference. Today, this young woman feels like she is fighting alone.
“The problem I encountered in the health care system with Tommy is having to deal with everything on my own”– Caroline, Tommy’s mom
A national rare disease strategy would help people like Caroline and Tommy to access more resources.
Three million Canadians, two-thirds of them children, have rare diseases. Canada is one of the few industrialized countries that does not have a national rare disease strategy. The pandemic makes the need more urgent than ever.
We invite you to sign our petition here: lesmaladiespassirares.com