16-year-old Tom is living with the rare and progressive neurodegenerative disorder, Wolfram syndrome. The condition is characterised by diabetes, optic atrophy (sight issues), hearing loss, dementia and neuropathy.[1]
Tom’s journey began at age eight when he started experiencing problems with his vision. His mother Andrea visited numerous paediatricians seeking answers but found none.
“Tom was incorrectly diagnosed with type 2 diabetes at age 12 but we insisted on further testing for broader conditions. After eight months of persistence, doctors confirmed he had Wolfram Syndrome. At the moment he still produces a very small amount of insulin, unlike a type 1 diabetic, but he is still reliant on his insulin pump for survival,” says his mum, Andrea.
Tom experiences many challenges due to Wolfram syndrome. He is visually impaired and struggles to regulate his body temperature, which means he always feels hot. Even during winter, he will always wear shorts and a t-shirt. His mum Andrea explains: “In the summer, this becomes unbearable for Tom, and he’ll often have to change clothes up to three times a day. We ensure he has air conditioning units at home and school, but he often has to stay at home during the summer. It doesn’t sound like an awful symptom, but it means that he is permanently uncomfortable.”
Tom also has autism and experiences hearing loss – both linked to Wolfram syndrome.1,2 He has a neurogenic bladder and bowel which means neither function properly.3 For a 16-year-old teenager, these issues are particularly difficult.
Fatigue is another pervasive symptom.2 Lately, Tom has been suffering from choking fits three to four times a night, making it impossible to get a full night's sleep. These episodes, which began in July, are distressing for Tom and his brother. The constant fatigue further impacts Tom’s ability to participate in daily activities without becoming exhausted.
Andrea shares that symptoms and progression vary widely among individuals with Wolfram syndrome: “From meeting other families affected by the condition and doing our own research, we’ve learned that everyone has slightly different symptoms at different times. This is why research is so important. The symptoms and timeline are unique for everyone. It’s hard to research and develop treatments because there’s no single pattern.”
Some symptoms, however, are common across cases: vision and hearing issues, diabetes and overwhelming fatigue.1,2 “If Tom has been out or doing any kind of activity, he usually needs to nap afterwards,” Andrea adds.
The unpredictability of Wolfram syndrome is one of its most challenging aspects. A very difficult element is the unknown – you never know what symptom is coming next and there is no pattern.
Fatigue is intrinsic to the condition, but now Tom also faces sleep deprivation. This has affected his ability to prepare for his GCSE’s. “I’ve told his school that he won’t be sitting his mock GCSE’s,” Andrea says. “He cares so much but at the moment, he’s not well enough to revise. It will do him more harm than good to sit them now.”
Fortunately, Tom’s school has been incredibly supportive. Although not a specialist institution, its supportive SEN (Special Educational Needs) department and small size help Tom avoid sensory overload, a challenge linked to his autism.
Social life is tough for Tom. His fatigue, combined with the challenges of managing a dysfunctional bladder and bowel compound the challenge of being a teenager.
Anything that can slow down the onset of symptoms is desperately needed.
Despite the immense challenges, Tom’s story emphasises the urgent need for continued research to develop treatments and improve the lives of those living with Wolfram syndrome.
With the help of funding from Action Medical Research, Dr Sovan Sarkar of the University of Birmingham is carrying out research to find out whether existing therapies used for other health conditions could help slow the progression of symptoms that affect the nervous system in children with the neurodegenerative diseases Niemann-Pick type C1 disease and Wolfram syndrome. His ultimate goal is to develop an effective new treatment strategy that could help improve the quality of life and extend life expectancy for children born with these devastating conditions.
Speaking about the prospect of new research to improve quality of life for children like Tom, Andrea says: “It’s the only thing that keeps many families going as they watch their child suffer, the hope that things will get better. We are so grateful for any donations as it’s so hard to raise funds for a condition most people have never heard of”.
References
- Wellchild 2024. What is wolfram syndrome. Wolfram syndrome resources. Available at: https://www.wellchild.org.uk/get-support/information-hub/wolfram-syndrome-resources/. Accessed January 2025.
- Wellchild 2023. Supporting children and young people with Wolfram syndrome at school. Available at: https://www.wellchild.org.uk/wp-content/uploads/2023/06/CHILDREN-WITH-WOLFRAM-SYNDROME-AT-SCHOOL2.pdf. Accessed January 2025.
- Wellspect 2022. Neurogenic bladder dysfunction. Available at: https://www.wellspect.co.uk/education/articles/neurogenic-bladder-dysfunction/. Accessed January 2025.