A family finds purpose after a life-changing diagnosis of neurofibromatosis

Jack O’Brien Burke was born to Jake Burke and Elizabeth O’Brien in 2005. At age two, while the couple was expecting the birth of their second son Luke, they received a devastating diagnosis: Jack had neurofibromatosis (NF).

In Jack’s case, a spontaneous mutation caused his NF. Almost half of NF type 1 patients develop the disease randomly, without either parent contributing to the genetic mutation, though those patients can then go on to pass their version of the gene on to further generations.

The most striking symptom of the disease is the potential for tumors to grow on any nerves in the body. These tumors are generally not cancerous but can cause issues if they grow in places like the brain or spine. Other symptoms of NF include learning disabilities, headaches, and heart defects.

When Jake and Elizabeth got Jack’s diagnosis, they say it brought them to their knees. Faced with a parent’s worst fear, they began to read everything they could find on the disease and its prognosis. They were struck immediately by the fact that although this “rare” disease is relatively common, there is currently no cure.

With new purpose, they set up Cure NF With Jack (CNFWJ), a non-profit group dedicated solely to raising money for NF research. They have partnered with the Children’s Tumor Foundation, the largest NF organization, to bring potential treatments through clinical trials. The family has organized golf tournaments, fishing tournaments, and symposiums with one single goal: cure Jack and people like him.

They soon learned that they had an unexpected and talented ally: Jack himself. As they said in their talk at Charles River’s 3rd World Congress this September, Jack has been bravely telling his story to crowds of all sizes since preschool. With the help of his brother Luke and his sister Grace, Jack has inspired thousands of people to donate their time and money to curing his disease.

For now, the family continues to fight for the day when they can change the name of their organization to Cured NF With Jack. According to Grace, they have planned a large party with a chocolate fountain when that day comes.

To learn more about Jack’s story, watch this video interview conducted by Charles River scientist David Clark. And remember, as Jack said himself: “I have NF, but NF doesn’t have me.”

Explore Charles River’s rare disease drug discovery and development platform here.