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
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.
Alex Bieser
You will not find a more charismatic 12 year-old than Alex Bieser. Alex was officially diagnosed with Wolfram Syndrome at the age of 6, several months after his diagnosis of Type 1 Diabetes and Optic Atrophy. This disease has progressed faster in Alex than most children his age.
Alex’s special needs and his struggles with anxiety, aggression, obsessive thoughts, and impulse control make daily life more challenging than other kids his age. These difficulties have left Alex feeling that no one understands his needs or how he feels.
Finding the right help for Alex’s complexities has been crucial. Now with a support system of trained and caring teachers, counselors and therapists that provide the multiple services and help he requires, Alex is developing coping strategies and better communication skills to advocate for what he needs.
Although Alex’s manifestations are more prominent at his age, he has a huge heart and would give you the shirt off his back. His smile brightens this world and makes the Snow Foundation want to fight even harder for these Wolfram Syndrome patients.
Caitlin Fess
Hi! My name is Caitlin. I was diagnosed with optic atrophy at age 12 and diabetes at age 14. I was diagnosed with Wolfram at age 15. I suffer from a little bit of vision loss and color loss and diabetes mellitus but not insipidus. I also suffer from some depression and anxiety. I started playing soccer and dancing at the age of four and continued both for years and continued soccer all the way up until and including college. This helped me stay active and helped my diabetes a lot. I started working when I turned 16 and still work now. I started waitressing full time and now I’ve worked full time as a bank teller for the last 4 years. I haven’t let my diagnosis stop me from what I want to do. I think it has made me a stronger person. I’ll be getting married this October to an amazing guy who has been so understanding and helpful with all of my health issues and does anything he can to help me and support me. I’m also lucky to have a wonderful family and supportive friends who understand and help me no matter what.
Jennifer Lynch
Jennifer Lynch, from the UK, was diagnosed with Wolfram Syndrome in 2010 at just 8 years of age. She had many different symptoms leading up to her diagnosis from about the age of 18 months, which made it difficult for the different doctors treating her to discover what was actually wrong. She has had everything apart from hearing loss happen to her within the first 10 years of her life!
As a small child Jennifer was always uncomfortable, anxious, upset & amp; easily agitated with new or unfamiliar surroundings or people. On Mother’s Day in March 2007 she was diagnosed with Cyclo-Rotational Nystagmus being long sighted. This is what kick started her journey to diagnosis. 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. Due to complications from severe coughing and choking episodes, Jennifer needed a tracheostomy in March 2012.
In 2015 it was noticed that Jennifer was starting to get forgetful has since been diagnosed with short term memory loss as well as being on the Autistic Spectrum which answers a lot of questions about behavior from when she was younger. It gets frustrating when you get asked the same question 4-5 times within the space of an hour but as with everything else with WS you all learn to deal & live with it. Jennifer has now lost most of her vision, only being able to see things held right in front of her. She was registered as SVI in 2009. From the age of 6 she learnt Braille & amp; how to touch type. Jennifer hasn’t doesn’t live a normal social life like most young adults her age. She has to be accompanied everywhere she goes; not just because of the vision issues but also because of the ongoing care needed for the Tracheostomy.
In February 2020, the family were informed that the Local Education Authority wouldn’t finance a further year at the college that Jennifer attended so they would have to look at alternatives. In February 2021 Jennifer started to attend a Day Service provider 2 days a week to try to bring some routine back to her life, especially after shielding since March 2020 due to Covid-19, as well as to give her something to do.
Nick Pagan
At the age of 5, I was diagnosed with type 1 diabetes mellitus. Then, at the age of 6, during a ophthalmologist visit, I was diagnosed with optic atrophy. The doctor, taking note of my diabetes, told us that there are only 2 things that cause optic atrophy, and learning that I didn’t have a brain tumor, it was concluded that I had Wolfram Syndrome. I also had high frequency deafness and diabetes insipidus which was described, at the time, as DIDMOAD. My parents were told to take me home and give me the best quality of life possible because my life expectancy was between 18 and 20 years old.
I am now 28 years old, blind, hearing impaired, and have both diabetes mellitus and insipidus. I have experienced many incidents with low sodium, due to the diabetes insipidus, that have landed me in the hospital on numerous occasions. I never let any of this stop me. I have completed 4 years, away at college and obtained a bachelors degree in communication with a concentration in public relations. I am working 2 part time jobs in a supermarket and for the county parks and recreation. I currently hold a 4th degree black belt in Tae Kwon Do and teach it to children at my parks and recreation job, even after being told I could “never do contact sports”. I was told by an audiologist that music “might be very difficult for me”, but I frequently play guitar, ukulele, keyboard and perform in open microphone nights. I play in a band and write music and lyrics.
I attended the rehab center for the blind in Daytona Beach Florida, where I learned orientation and mobility, cooking skills, computer navigation and independent living skills. I lived there for 6 months and upon returning to my home town, began living independently for the past 3 years, and I do a decent job keeping my place clean and neat.
I am very optimistic and it is difficult to get me down. My life motto is “don’t worry, be happy”!
Brooklyn Reeves
Brooklyn is an outgoing, loveable and silly almost 5 year old. She passed her newborn screenings but when she wasn’t talking at 1 year old her parents started to question if she possibly had hearing loss. After 6 months of speech therapy and several inconclusive office tests, she was sent to Washington University Children’s Hospital to see an audiologist. It was determined that day that she had severe hearing loss and she was fitted for hearing aids. Over the next year her hearing loss declined further and she became a candidate for Cochlear Implants which she received at the age of 3. Her parents wanted answers so they asked for genetic testing, assuming it would probably come back with no genetic link. But, when the results came back they found out Brooklyn had Wolfram-like syndrome. Wolfram-like syndrome typically presents less severe effects, but they are still life altering. And there isn’t a lot of research on her variant as there are only 4 other known cases in the world. At age 4 Brooklyn was diagnosed with optic atrophy. Her parents and medical team are monitoring her vision and she visits with an endocrinologist regularly to monitor for type 1 diabetes, typical of wolfram syndrome. Thankfully for now she has not developed type 1 diabetes and her vision doesn’t require correction, but due to her diagnosis her parents are obviously concerned as to how things may progress. But all of this being said, Brooklyn is a light to those around her. She finds joy in every day and has such a fun personality. She approaches each day and experiences full of wonder and love.
Audrey Wipperman
Since her diagnosis, Audrey has met the challenges Wolfram patients endure each day to live as normal a life as possible. Early on and through her teen years, Audrey continued to push her physical limits by participating in cheerleading, swim club, and dance. These days, she works hard to maintain a regular fitness regimen. She has always had tremendous support and the necessary accommodations from her undergraduate and college administrations so that her education has not been deterred by her disabilities, particular her vision. Embracing the advances in technology has been a major factor to Audrey’s classroom success. While at college to pursue a secondary education degree, she has has lived independently on campus for most of the time. Since Audrey doesn’t drive due to low vision, she also braved the use public transportation while in the city. She is now finishing the last semester of college with a student teacher position at a local high school and looks forward to leading her own students one day.
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