Wolfram Syndrome — A Rare Form of Diabetes
Audrey was 6 years old when we began her journey with Type 1 diabetes. It was the Fall of 2005, same as Nick Jonas. Becoming a big Jonas Bros. fan over the next few years, she jokingly said that she and Nick had a special connection because of the fact they both were diagnosed with diabetes at the same time. (She even had a Jonas Brothers birthday cake for her ninth birthday!)
We made the adjustments needed to deal with Audrey’s diabetes with relative ease. Six months after she was diagnosed, we moved to Pittsburgh where we would still have access to quality medical care and nursing services at her school and over the next couple of years, she would continue on as any other active elementary-age kid. She took dance lessons, participated in cheerleading, belonged to a swim club, went on field trips and traveled with our family to lots of fun places. We even survived school parties, Trick-or-Treating, birthday parties, and yes, sleepovers! She seldom complained about the rigors of testing and getting shots, having me along for field trips and all the other inconveniences associated with Type 1.
We were doing fine with Audrey’s diabetes management, but she started having some bladder issues that no one could explain. Assuming it was diabetes related, we didn’t get too alarmed until about a year later when she went for her annual eye exam. Interestingly, her doctor could not get her visual acuity to 20/20 even with correction, and the pallor of her optic nerve did not appear normal. The challenges we had been dealt previously were nothing compared to the turn this diabetes journey was about to take. After an MRI, a battery of eye tests and seeing a total of five different eye doctors (not to mention a neurologist and a rheumatologist), it was finally recommended that we have Audrey tested for Wolfram Syndrome, a rare genetic disease. Let me just tell you, it can be very scary when you look up a diagnosis like Wolfram Syndrome on the internet! Wolfram Syndrome is a rare form of diabetes, causing vision loss, hearing loss, and other neurodegenerative problems with the average lifespan of a Wolfram patient being 30 years.
After confirmation of Audrey’s Wolfram Syndrome diagnosis when she was 9 years old, we kept a low-profile so as not to scare her about the future of her health. With the diagnosis, we now understood and could treat her bladder problems, but there was nothing we could do to stop her vision loss and color blindness. Fortunately by this time, Audrey was a candidate for a new clinical study for Wolfram patients started by the late Dr. Alan Permutt.
Dr. Permutt was an endocrinologist at Washington University in St. Louis with a passion to cure diabetes, and the Wolfram Syndrome link provided him clues to understanding all forms of diabetes. To date, the research is still active under the leadership of Dr. Fumihiko Urano and has shown some very promising results. A pre-clinical trial with a potential drug candidate was successful in lowering beta cell death in the diabetic animal models and has yielded good blood glucose levels. This potential drug candidate is currently FDA approved for other indications and repurposing this drug will expedite the final delivery to Wolfram Syndrome patients. The Snow Foundation, created to find a cure for Wolfram Syndrome, is working hard to raise awareness and money for this much needed clinical trial. We are encouraged that this research may lead to new therapies and potentially a cure for all types of diabetes.
In the mean time, Audrey is moving forward in her teen years with a full understanding of the scope of Wolfram Syndrome. She has taken full responsibility for her diabetes and works at maintaining a good A1C reading despite the fluctuations that come into play just being a teenager. We continue to travel to interesting places while she still has her vision. Her favorite destinations are New York City and Southern California with Europe on her radar. She still dances, and in 2015, Audrey performed at Walt Disney World with members from her dance studio. She accepts the necessary school accommodations needed for her diabetes and vision loss with courage and humility working hard at her studies to prepare for college after her senior year. Audrey is determined to live her life beyond the obstacles that began with her diabetes journey.
What is Wolfram Syndrome?
Wolfram Syndrome is an autosomal recessive genetic disorder in that the mother and the father each pass two copies of the gene down to the child. Wolfram Syndrome is considered a rare form of diabetes and afflicts about 1 in 500,000 people. There are around 30,000 patients in the world who have this disease.
Children with Wolfram Syndrome will typically develop insulin-dependent diabetes early in life. Other manifestations of the disease are optic nerve atrophy (vision loss), hearing loss, diabetes insipidus and other neurologic disturbances. These manifestations usually occur at different stages, making it difficult to diagnose. The identification of optic nerve atrophy after the diagnosis of diabetes mellitus in a patient under the age of 16 does lead to suspicion of Wolfram Syndrome. In addition to the four hallmark manifestations, Wolfram Syndrome can also lead to loss of sense of smell, problems with balance and coordination, muscle spasms and seizures, urinary tract problems, and irregular breathing. Due to the progressive neurodegeneration of the disease, the median age at death is 30 years, usually from respiratory failure as a result of brain stem atrophy.
Read Christine Heath’s A Mother’s Intuition and a Rare Diagnosis.