Art Piece Name: ‘Believe’

Program: SCN2A

Connor’s Story:

Some of Connor’s favorite things are listening to music, the beach, his adaptive bike, and his two brothers, Chase and Cameron. A few weeks after birth, Connor cried often, rarely slept, and had a lot of gastrointestinal issues and feeding difficulties. At eight months old, he had his first seizure and went on to begin having close to a hundred a day, trialing dozens of ineffective pharmaceuticals, having a feeding tube surgically implanted as he refused to eat, losing his laugh, his smile and the ability to hold up the weight of his own head. He went through an endless barrage of tests, which all came back “normal”. This began a diagnostic odyssey for him and his family that was to last five years.

After whole exome sequencing, he was diagnosed with a mutation in the SCN2A gene, which is the cause of all his debilitating symptoms and endless suffering. His family was told, “We don’t know much about this disease, and we have nothing new to offer you. In 100 years from now, we will have learned to silence the mutated gene, but not in your son’s lifetime”. It was a hopeless situation.

Fast forward eight years – advancing an enormous amount of research into SCN2A mutations, and Connor’s family meeting n-Lorem founder and CEO, Stan Crooke. Today, because of n-Lorem, Connor’s family is counting down the months until Connor receives his ASO, a treatment designed and tailored to his specific mutation.