Jackson family faces deadly rare diagnosis; 5K planned for therapy, research, wheelchair

Since Alexander disease first was identified in 1949, about 500 cases have been reported, according to the National Institutes of Health.

The rare disease is among a group of nervous-system disorders referred to as leukodystrophies, meaning it destroys the fatty coverings, or myelin sheaths, that surround healthy nerve cells.

Before her daughter Jordyn was diagnosed with Alexander disease in October 2015, Amber Conn of Jackson had no idea the 2-year-old’s condition was so serious.

Jordyn never had developed at the rate of other children her age, but early testing didn’t reveal much.

“There were kind of a lot of red flags, but we just thought she was delayed developmentally,” Conn said.

Jordyn Conn works with Malerie Essner, a physical therapist, Thursday, Aug. 11, 2016 at HealthPoint Rehabilitation in Cape Girardeau.Fred Lynch

But when Jordyn developed noticeable tremors that affected her attempts to crawl, her parents requested an electroencephalogram.

“And it was normal, so they sent us to Children’s Hospital in St. Louis,” Conn said.

There, the toddler underwent an MRI that showed her white brain matter was discolored, indicating some type of leukodystrophy.

Subsequent genetic testing confirmed Alexander disease was the cause.

“(The doctors) told us she wouldn’t live a full life; they were pretty grim,” Conn said. “The outlook was not good.”

Jordyn Conn works with Malerie Essner, a physical therapist, as her father Randy Conn II assists, Thursday, Aug. 11, 2016 at HealthPoint Rehabilitation in Cape Girardeau.Fred Lynch

The disease has no cure and gradually shuts down bodily functions and a patient’s ability to walk.

Sometimes the disease can be inherited, but in Jordyn’s case, her parents were told it came about through a random genetic mutation, as they both tested negative for the gene that causes the disease.

Although doctors have said Jordyn may live only another five to 10 years, the Conns are doing everything they can to fight her symptoms.

At almost 3 years old, Jordyn receives physical, speech and occupational therapy four days a week.

She also has been enrolled in a research study in Philadelphia.

Because of that, the family will be holding a 5K fundraiser at 8:30 a.m. Saturday near the ballfields on North Union Street in Jackson.

Proceeds will be used to help pay for the trip and to buy a walker and wheelchair for Jordyn.

The registration fee for the 5K is $25 for anyone 11 years old or older and free for children 10 and younger.

Race-day registration will be from 7 to 8 a.m., and raffle winners will be announced at 8 a.m.

ljones@semissourian.com

(573) 388-3652