A second chance

These people not only want to advance science, they want to help my child. I think they did. They gave me my son back.
— Lisa Maxwell, mother

Tuberous sclerosis complex, or TSC, is described as a combination of autism, cancer and epilepsy. As if any one of those diagnoses isn’t bad enough, this genetic disease causes tumors to grow in the brain and on other vital organs, with destructive consequences.

In Aiden’s case, these tumors changed him from a precocious 2-year-old to a non-communicative, destructive infant-like toddler with frequent seizures. The regression was devastating to watch, recalls his mother Lisa.

“What is more devastating? Having a child that is born broken, or watching your child become broken?” recalls Lisa. “He was gone because of one mutated gene.”

Children who experience hundreds of seizures every day represent one of the most complex challenges in pediatric neurology. Miraculously, a team from the NRI’s Gordon and Mary Cain Pediatric Neurology Research Foundation Laboratories discovered a novel treatment for some of the roughly 30 to 40 percent of patients who are unresponsive to current medications, special diets and surgery for severe epilepsy.

This NRI team found that an existing drug, everolimus, targets the same molecular pathways that are abnormal in the brains of the children with epilepsy. Everolimus was already FDA-approved for use in humans for transplant rejection and to prevent tumor growth in patients with TSC. Even better, it was known to be well-tolerated by adults and children.

The FDA, cautious because children were being studied, allowed just 20 children to participate in the original trial, and Aiden was one of them. The results were spectacular, with 50 percent of the children experiencing significantly fewer seizures and four of the 20 becoming seizure free.

Based on these results, a larger, international study was approved, which also showed positive results. After six months on the drug, Aiden’s speech became clearer and he went two years without a seizure. Today, he can read, do math and ride his bicycle.