Category: Family Stories

October 12, 2021

On a cold and blustery Chicago morning, I received a phone call that would change the fate of my family forever. Just a few days earlier, my son Joshua had undergone an MRI scan. While I considered the possible results, I had never thought the diagnosis could be something so terrible. A diagnosis of a…

October 12, 2021

Kora has always been a gift to her parents, starting from the moment of her arrival on December 25th. In her first few weeks of life, Kora struggled with acid reflux and major spit up. We lived by the five Ss (Swaddle, Side-stomach position, Shush, Swing, Suck) to soothe her somewhat cranky nature. Thankfully, Kora…

October 12, 2021

May 17th, 2001 was a day that changed my life forever. Julia Marie Novak was born at 6:20pm, weighing seven pounds and eleven ounces. I remember thinking to myself that seven and eleven were good luck numbers, sealing her fate of a perfect life. Eighteen months later on Christmas of 2002, my sister brought Julia…

October 12, 2021

Learning To Soar With My Superhero Our story pivots around one precise moment—a phone call one afternoon in May 2016 almost four years ago. Every life event before, and every moment since is redefined now in relation to the information we received that afternoon. The rest of that particular day is a blur, and yet…

January 12, 2021

When Yaya was finally diagnosed with 4H Leukodystrophy, we were devastated and confused. Little information was available and it was impossible to understand what this disease meant for our daughter. Even Yaya’s very reputable and experienced geneticist admitted that he knew very little about this disease. Most importantly, he was not able to give us…

January 12, 2021

Meet Courtney and Nick and their two beautiful daughters, Jamie and Layla. In 2019, both Jamie and Layla were diagnosed with 4H Leukodystrophy (POLR3A). Jamie Jamie was born in 2016 and had developmental struggles from about 4 months old, not hitting any of the expected milestones on time. She bobbed her head and shook all…

January 12, 2021

Asher is a beautiful, 7-year-old boy living with 4H Leukodystrophy, POLR3B type. His family, including an older sister, were thrilled to welcome him as a healthy, full-term baby. He was happy, had an infectious smile and met all early milestones. Diagnosis At around 14 months, Asher began walking. As he grew, his parents noticed he…

January 12, 2021

Long before I had ever heard of learning disabilities, attention deficit disorder, language impairments and emotional handicaps, I believed that young children learned what their parents taught them or what their parents modeled for them. By the time my middle son, Jon, was three years old, my confidence in what I was able to teach or…