Bryce Thomas Heckendorf was born on May 6, 2013. For the first five and half months of his life, he was a healthy, thriving baby boy: He hit key milestones and was developing right on track. Over the weekend of October 26th, Jenna and Kyle noticed that Bryce didn’t seem to be using his arms as much as he had been: He wasn’t interested in swatting at the toys hanging from his activity center or reaching for favorites like his toy football or Sophie the Giraffe. He had a cold and they initially thought that he just wasn’t feeling well and would bounce back within a few days.
Later the following week, they became worried when he had a tough time holding himself up in his Bumbo chair; he was also acting as though he was very stiff. On Saturday, November 2, they took him to urgent care, where all of his blood tests came back normal. The following Monday, they went to a pediatrician, who referred them to a physical therapist. That Wednesday, they saw their regular doctor for Bryce’s 6-month checkup; she was concerned at how much he had regressed developmentally and immediately referred them on to see a pediatric neurologist at St. Mary’s Hospital in Madison the next day.
An initial EEG turned up nothing, so Bryce was admitted as a patient to St. Mary’s and underwent an MRI; that also came back clean. He spent that entire night hooked up to the EEG so they could monitor his brain activity. The results showed that Bryce was having discharges, or mini-seizures, in the occipital lobe of his brain. Basically, neurons were either not connecting or misfiring; this, they thought, was the reason he was having issues with some motor functions. WHY it was happening was still a question. The doctor prescribed an anti-convulsant to help, and Bryce was released from the hospital late Friday afternoon. With several lab panels still outstanding, they were hoping to have some answers within a few days.
On Tuesday, November 12, Jenna and Kyle took Bryce back to St. Mary’s with concerns about his lack of appetite and additional side effects from the medication. An initial EEG did not show that Bryce was having the discharges they initially saw the previous week. With that, the pediatric neurologist referred Bryce to the American Family Children’s Hospital at UW-Madison. Throughout that week, Bryce underwent a number of exams and tests, including a spinal tap, which ruled out autoimmune disorders. Additional blood samples were sent out to test for genetic conditions. Bryce was discharged from the hospital on Friday, November 15, and spent the weekend resting comfortably at home.
On Tuesday, November 19, Jenna and Kyle received the sad news that Bryce has Krabbe Disease (pronounced crab-a), a rare and incurable genetic disorder that falls under the umbrella of leukodystrophy. Basically, Bryce does not produce a key enzyme known as galactosylceramidase (GALC), and the deficiency affects the growth and maintenance of myelin (the protective white sheath that protects nerve endings — think of a wire that’s being exposed). The lack of GALC results in demyelination and an excess of globoid cells, which are toxic. As a result, children slowly lose their motor functions, have seizures and muscle spasms, and go blind and deaf before losing their life. The average life expectancy of a child diagnosed with the early infantile form is 13 months, though with proactive care, many children are living up to five years. (For more about Krabbe Disease, please go here.)