Freddie has Maternally Inherited Leigh Syndrome, which is a Mitochondrial Disease. He was first diagnosed with Mitochondrial Disease at eight months old and we received the clinical diagnosis of Maternally Inherited Leigh Syndrome two days after his first birthday. Freddie has inherited this condition from my DNA and since finding out about the condition I have also undergone genetic testing.
Heartbreakingly, these diseases are degenerative and have no cure and, sadly, the earlier the onset of the disease usually means the shorter the lifespan of the child. The average life expectancy of a child with Leigh Syndrome is 2-3 years. Symptoms in Freddie include developmental/learning difficulties, epilepsy and being gastrostomy fed.
I am Freddie’s Mum, and I am sharing his journey through my eyes.