Author: Jason Martin
Life is always a task! But that task is amplified tenfold for someone like my son Tyler who suffers from an extremely rare autosomal recessive disease called SSADH.
Tyler was diagnosed due to failing to reach regular milestones at the age of 10 months, and quickly became ill because of his low immune system which then caused ketotic hypoglycemia ( which is unconnected to his condition).
SSADH is so rare that it is only shared by 400 people worldwide. To explain SSADH in simple terms – because of an enzyme deficiency in the brain, signals or messages cannot be sent properly to the body, and most commonly causes physical, mental, developmental delay, hypotonia (a weakness of muscle tone), and can lead to possible seizures and behavioral problems with autism-like features.
As a parent, the most heartbreaking thing about this rare disease is that it varies vastly from individual to individual. There is no specific pattern or way of knowing when Tyler will sit up unaided, stand up for the first time, or even take his first steps. For a parent, watching their child suffering from any illness is upsetting, but not knowing when or if your child will speak properly or tell you “I love you” is so hard.
Being told by doctors who know little about this rare condition that there is no cure or any specific treatment for this disease is soul-destroying to any parent. Half the time you find yourself explaining the disorder to the medical experts, which is kind of crazy living in a world that seems to be full of so many medical breakthroughs.
Very little know about this rare metabolic disorder. Unfortunately, this means that the SSADH association’s research to develop medicines is not supported by the big fund raising organisations, so it is largely reliant on families & friends of patients.
This is why I am going to try my utmost to promote the awareness of SSADH & Hypotonia and urge others to support the SSADH association– they need all the help and support they can get!