Family fundraising to save toddler with disorder that turns babies into 'human time bombs' - KSL.com

Through their foundation and GoFundMe* fundraiser, the Saladinos are raising the remaining $2.5 million needed to design from scratch an antisense oligonucleotide, or ASO treatment, which would knock down the toxic impact of a genetic mutation that is causing the dysfunction in Henry's brain.

Scientists with the Rare Disease Translational Center at The Jackson Laboratory will then test ASOs in a mouse model that has the exact same mutation as Henry and also has similar symptoms.

"The biggest risk is unpredictable side effects, but that's why so much time and money is being spent on pre-clinical drug development to test for all potential toxicities until we can be as sure as possible that it is safe for Henry," Achkar said.

"Pharmaceutical companies aren't as interested in helping if there's a much fewer number of cases, so when you're talking about an ultrarare condition like AHC, it's not going to be profitable for pharma," Swoboda said.

Saladino regularly shares photos and videos on social media showing the heartbreaking nature of Henry's condition, especially during episodes in which he is seizing or not breathing, to raise awareness on the reality of living with AHC without treatment.

For the first time in three years, Saladino now sometimes drives with Henry but only to preschool, her eyes always jumping from the road to her rear view mirror in case he is on the verge of a seizure.