There are several rare, life-threatening diseases and disorders that exist, and one of the most vexing and rare is a genetic disorder called “Wolfram Syndrome.” It is extremely rare — it affects 1 in 500,000 people, but unfortunately, one of them is here in Lycoming County — 11-year old Danny Flexer IV. He is the son of Dan Flexer III and Sherry Stahl and the nephew of Dawn Flexer, owner, and operator of the Newberry Sub Shop.
What Is Wolfram Syndrome?

It is an autosomal recessive genetic disorder, in which each parent passes an affected gene to the child. Between the ages of 5 and 16, children with WS typically first develop insulin-dependent diabetes (Type 1 Diabetes Mellitus).

“Danny was 3 1/2 years old when he was diagnosed with Type 1 Diabetes,” Dawn Flexer, his aunt, told Webb Weekly. “I also have another niece (not Danny’s sibling) who was diagnosed with Type 1 Diabetes as a juvenile, so our family simply believed Danny was merely afflicted with Type 1 Diabetes.”

Most Wolfram Syndrome children go on to develop optic atrophy and vision impairment, eventually leading to blindness.

“Danny’s optic atrophy began noticeably in the fall of 2018,” Dawn said.

“At this time, Danny can see just fine and does not require any assistance.

His next eye appointment is at the end of this month, February, and we will know more about the progression of the optic atrophy at that time. At his last 6-month appointment, Danny’s vision in both eyes was holding at 20/40, however, he is nearly 100 percent color blind. WS patients generally experience large sudden drops in visual acuity. With this knowledge, our family and Danny’s pediatrician decided to add a new medication to Danny’s drug therapies with the guidance of Dr. Urano at Washington University School of Medicine Research Center in St. Louis. This experimental medication is proven to stop or delay optic atrophy, helps with Danny’s headaches, and reduces the chance of seizures — Danny experienced three grand mal seizures in 2016.”

About 40 percent of WS patients develop Diabetes Insipidus, which is a disorder of salt and water metabolism marked by intense thirst and heavy urination.

About 50 percent of WS patients develop hearing loss, often leading to deafness.

Dawn said that Danny’s endocrinologist’s office at Geisinger Pediatric Hospital in Danville has never seen one single case of Wolfram Syndrome before Danny, and there has only been one case of WS at Children’s Hospital in Philadelphia.

What does Danny himself think about what he is going through?

“I have to take a lot of medicines in the morning and at night. I have trouble sleeping at night when it’s pitch-black, and I’m trying to sleep, I see colored dots,” Danny said. “So, I have to sleep with a nightlight on or the TV. My feet and legs hurt a lot at night too. I get high anxiety a lot in the car, and school when I can go, and around large groups of people. That’s why I don’t like going to restaurants to eat.”

He continued, “When I’m feeling good, I ride my dirt bike, and hang out with my family. I like going to the sub shop and spending time with my Gram and Aunt Dawn.”

The Snow Foundation supports global Wolfram Syndrome research, including Washington University’s School of Medicine in St. Louis, Missouri.

“Our family, along with many families affected by Wolfram Syndrome, are committed to raising awareness and money for research for WS,” Dawn said. “Rare Disease Day is Saturday, February 29. We at the Newberry Sub Shop, 2002 Newberry Street in Williamsport, will be raising funds for the Snow Foundation and WS, for the entire week of February 24 to the 29, we will donate $1 per half sub and $2 per whole sub (sold at full menu price). Our business phone is (570)326-5544.