WOLFRAM SYNDROME PATIENTS
These are the stories of some of the young people with Wolfram Syndrome and their ongoing struggles fighting the disease.
Gianna Aiello was born profoundly deaf and received cochlear implants as a toddler. Later, after failing her Kindergarten vision screening and following what seemed like hundreds of doctor appointments, tests, and hours of research, Gianna’s parents, Gina and Carl received devastating news — Gianna had Wolfram Syndrome.
Gianna is no stranger to overcoming obstacles and adapting to the curve balls life has thrown her. She also has Celiac Disease and multiple food allergies, which have required adjustments in diet. While her strong self-advocacy skills have helped her in the classroom setting, due to her hearing and visual impairments and ADHD, school is still a struggle for her.
Thankfully, Gianna has an Individualized Education Program (IEP), and has supportive teachers, and receives multiple services for vision, hearing, and speech. She uses a sound field and FM system in the classroom and has begun using a 360-degree video magnifier that helps her see things from distance and also magnifies print on worksheets and books. With the help of private tutors and an after school speech therapist, Gianna is able to continue with her education. Gianna’s struggle propels the Snow Foundation forward to continue the search for a cure and treatment for Wolfram Syndrome.
You will not find a more charismatic child than 7 year-old Alex Bieser. Alex was officially diagnosed with Wolfram Syndrome when he was 6 years old. This disease has progressed faster in Alex than most children his age. He is insulin-dependent and suffers from optic atrophy, bladder issues, aggression, impulse control as well as anxiety and obsessive thoughts.
Alex has a difficult time in school mainly because of his bladder issues and the lack of support from teachers and school administrators. This lead Alex’s mom, Amber, to find a new school for her son — a school with teachers and administrators who were trained to care for kids like Alex who suffer from rare diseases. Although Alex’s manifestations are more prominent at his young age, he has a huge heart and would give you the shirt of his back. His smile brightens this world and makes the Snow Foundation want to fight even harder for the younger generation of Wolfram Syndrome patients.
Jennifer Lynch was just 8 years old when she was diagnosed with Wolfram Syndrome. She had many manifestations leading up to her diagnosis, except doctors couldn’t figure it out what was wrong. As a small child Jennifer was always uncomfortable, anxious, upset & easily agitated with new or unfamiliar surroundings or people. Due to complications from severe coughing and choking episodes, Jennifer needed a tracheostomy. At the beginning of 2008 Jennifer was diagnosed with early stage Type 1 Diabetes and with a Neurogenic Bladder, which meant signals were not getting sent correctly from the brain to the bladder. Jennifer has now lost most of her vision and is currently learning Braille. Jennifer doesn’t live a normal social life like most teens her age. She has to be accompanied everywhere she goes; not just because of the vision issues but also because of the ongoing the care needed for the Tracheostomy.
In September 2014, Jennifer moved up to high school in the West Sussex, U.K. town where she lives. However, after attending full days for 8 weeks, there were difficulties because the school administration felt it was too challenging to address her many special needs. Jennifer had lost all her self-confidence and felt isolated from the other students. So her parents moved her to another school 20 minutes away from home. At this new school she has blossomed. The change in her is amazing. She is even able to participate in school sports activities.
When Lauren was two, she was diagnosed with Type-1 diabetes. It wasn’t until 10 years later that her ophthalmologist made the connection between Lauren’s vision loss and her other symptoms and suspected Wolfram Syndrome. Lauren is blind and uses a cane to get around. She has also experienced a full range of other manifestations, including loss of hearing, smell, and taste, plus seizures, bladder problems, heat intolerance, fatigue, and short-term memory loss.
As the disease has progressed, Lauren has had to slow down. With the exception of using a cane, you wouldn’t know Lauren had Wolfram Syndrome by her appearance. Because of this, most people do not know the day-to-day struggles she has. It’s hard for her to get out of bed in the morning because of her extreme fatigue, or when she has had seizures all night long, or having to go to the bathroom every half hour, or had trouble keeping her blood sugars regulated.