Alex
This is the English version, you find the original version below
Alex is 25 and has just gone into supported living. He is a very happy and sociable young man who loves dogs, dance blast and bowling. He can understand what is being said to him, but has difficulty communicating back as he can only say a few words and phrases. He has me, his mum, his stepdad Chris, his sisters Megan and Lilly, and a dog called Bailey!
Alex’s pediatric neurologist, Dr. Frances Gibbon, tried to find a diagnosis for Alex for years. In 2012, when Alex was 13, she attended a seminar in Amsterdam and discussed her case. A professor was aware of the children in Salla and advised Dr. Gibbon to take a urine sample from Alex and test it for sialic acid. A muscle biopsy was then taken, which confirmed Salla.
Alex’s MRI scan pictures showed virtually no myelin, and he shouldn’t be able to do anything. His clinical picture does not match it, as he is quite capable of doing some things.
Alex makes us proud all the time. He brightens up the day and is a joy for anyone who is in his life.
Salla is an extraordinary disease. When a family member researched our history, she discovered that my mother’s ancestors originated from Salla in the 13th century.
It was lovely to speak to Mums who also have a child with Salla, and hear their experiences. No one knows what it’s like, and it’s very hard to explain, and can feel very lonely at times.
Thank you to Karen Webb for sharing Alex’s story and her family’s experience with STAR.
