Wolfram syndrome is an autosomal recessive inherited genetic ultra-rare progressive neurodegenerative condition with four main features—diabetes insipidus, diabetes mellitus, optic atrophy and deafness. No two people seem to be affected in the same way. WS can also cause anxiety, aggression, depression, loss of gag reflex/choking, respiratory issues, balance and memory loss, sleep apnoea and in extreme cases scoliosis. Being on the autistic spectrum is also seeming to be mentioned more by parents of those affected. Generally the first sign is early-onset type 1 diabetes, followed by colour blindness and worsening of vision by early teens. Diabetes insipidus and hearing issues follow from the mid-teens. The average life expectancy is 30–40 years of age; but this can vary depending on an affected person’s health and severity of the syndrome. WS affects 1 in 770,000 people in the United Kingdom. Many doctors have and never will see a person with WS.
My daughter was diagnosed with WS at the age of 8 following 3 years of investigations. Her development of the condition seems to have started when she was about 2.5 years old with coughing attacks, followed by vision issues diagnosed when she was 5. At the age of 6 she was diagnosed with type 1 diabetes and a neurogenic bladder. At the age of 10 she had the second of two severe choking attacks in a year, which resulted in being on a ventilator for 3 weeks with three failed attempts at coming off, which resulted in a ‘temporary’ tracheostomy being carried out. Seven years later this is still in place and looks likely to remain so. At the age of 12 she was diagnosed with scoliosis, and over the last 3 years, she has developed short-term memory loss with her balance deteriorating so much that a wheelchair is required if we are out for any length of time or walking any distance. Around the age of 6 she had the first of several sleep studies that showed she had central obstructive sleep apnoea. She would desaturate for up to 13 seconds at a time, up to 20 times in an hour, but never requiring any medical intervention. We have been told that she has an extreme form of WS as everything has happened within the first 10 years of her life.
