Jennifer Lynch has a very different life to many teenagers.
The 15-year-old walks with a white cane and wears a tracheostomy tube in her neck. She has to be closely monitored and equipped with portable oxygen and an insulin kit wherever she goes.
Jennifer, from Worthing, was diagnosed with Wolfram Syndrome, one of the rarest forms of diabetes, in March 2010.
Professor Tim Barrett, lead Wolfram Syndrome researcher in the UK, is in the process of applying for NHS funding to establish a national multidisciplinary service for children and adults affected. He believes experts are on the cusp of a cure that could save children like Jennifer but said funding is needed for research.
One way people can help is to support Jeans for Genes Day, the annual fundraising campaign for Genetic Disorders UK, a national charity that supports individuals and families.
Jennifer’s parents, Tracy and Paul Lynch, founded the support group Wolfram Syndrome UK and a grant from Jeans for Genes enabled the charity to continue funding Tracy as a full-time member of staff.
The family, including brother Iain and Marcus, wants to do all it can to raise awareness and help other children affected by a genetic disorder.
Tracy said: “Jennifer was diagnosed in March 2010 but the process began three years before that at the opticians, where she was diagnosed with nystagmus, the involuntary wandering of the eyes, and being long sighted.
“We had concerns about her eyesight, and we were trying to find out what the cause of the nystagmus was. The optician referred us to the local eye hospital.”
Jennifer was referred to Great Ormond Street Hospital and in 2008, she was diagnosed with Type 1 diabetes.
An issue was found on her brain during an MRI scan for her eyes and matters then snowballed. In 2009, Jennifer was registered as blind then the formal diagnosis of Wolfram Syndrome was received in 2010.
Tracy said: “She needs to visit the toilet frequently due to the diabetes insipidus, walks with a white cane and wears a tracheostomy tube in her neck following a severe choking attack in 2012 and three failed attempts at coming off the support of a ventilator.”
Jennifer can need a ventilator at night, her tracheostomy tube regularly needs changing and the family needs to prepare her for visits to anywhere new, as she prefers familiar situations.
The Jeans for Genes Day fundraising campaign has just been officially launched with celebrity backing. Fundraising packs available through www.jeansforgenesday.org