Riley’s Story…

Riley is a 9-year-old boy with a rare, genetically-driven disease known as pantothenate kinase-associated neurodegeneration.

The condition, also known as PKAN, is a nervous system disorder rooted in an error in the PANK2 gene. This gene mutation causes a metabolic deficiency that leads to progressive difficulty with movement, usually beginning in childhood.

Riley was diagnosed with PKAN when he was 3 ½ years old, after failing to meet many developmental milestones. As with many PKAN patients, his condition was confirmed through an MRI scan, which showed iron had accumulated in part of the brain known as the basal ganglia. Deep within the cerebral hemispheres, the basal ganglia is responsible for motor control and many other important functions.

Since that time, Riley’s condition has worsened. Until a couple years ago, he could walk on his own — although, even then, he experienced muscle contractions known as dystonia, and fell frequently as a result. At age 6, he lost that ability. Today, his body is limp and he struggles to hold his head up. His mom, Erin, carries him from place to place.

Riley experienced similar setbacks in his speech. While his speaking abilities were always severely limited due to the disease, now he can barely say a word.

PKAN has had a major impact not just on Riley, but on his whole family. Erin is the primary caretaker, with lots of help from Riley’s younger brother, Mason, and grandmother, Janis. All of them regularly shower their “Riley-bear” with love. In fact, few things make Riley as happy as the moment when Mason returns home from school. Mason bursts through the door, tosses his backpack down and runs over to embrace his big brother, always eliciting a big smile from Riley.

Extended family and neighborhood friends in Colorado also frequently stop by Riley’s house to relieve some of the burden PKAN has placed on the family. Community support became a lifeline in summer of 2017, when Riley experienced a severe episode of dystonia that led to a lengthy hospital stay. Doctors had to induce a coma to minimize brain damage. “When we went into the hospital, I didn’t know if [we] were all going to walk out of there together,” Janis recalls. “But sure enough, here we are.”

Riley’s family struggled to regain financial footing after the episode. “We spent seven-and-a-half weeks in the hospital,” Erin says. “I lost of my job. I had no income.” But the community rose to the challenge. Local fundraisers helped cover Riley’s medical costs and provided money to advance research for PKAN, for which there is no treatment.

Today, Erin is working towards becoming a certified nursing assistant, which will benefit the family in more ways than one. She exudes a positive attitude, hopeful for a therapy that one day will improve quality of life for Riley and others with PKAN.

Despite all that PKAN has taken away, Erin’s tone of optimism permeates the household; Mason continues to be his big brother’s strongest ally, and Riley continues to find joy in daily activities. Riley’s family demonstrates how simple, loving gestures and an encouraging mindset can sometimes make the biggest impact on the lives of individuals with PKAN.