BOSTON — Each day brings Henry Saladino a new set of challenges and opportunities. The two-year-old was born with a rare genetic disorder that can bring on life-threatening seizures and paralysis at any moment.
We met Henry and his mom Mary on a good day recently, inside their Boston home. On this day, the small pharmacy of drugs in the family's kitchen cabinet was keeping her toddler's seizures at bay.
"Our disease is called the 'human time bomb disease' because any symptom could hit at any time," Henry's mom explained as she worked to fill a small vial with anti-seizure medication.
Born right at the start of the pandemic, Henry’s doctors soon diagnosed him with a rare disease called Alternating Hemiplegia of Childhood or AHC. Doctors estimate there are about 25 other children in the entire world who share the same genetic mutation.
"It's really awful to see when it hits him. He's a very different child," his mom added.
In an effort to better help his team of physicians, Mary Saladino often documents her son’s seizures via video. Aside from seizures, Henry will often suffer from temporary paralysis which takes away his ability to breathe.
"The big fear with all of these symptoms is regression, it could be temporary or permanent regression," Mary Saladino said.
But there is a catch to all this. Doctors believe the science is out there to help Henry. No pharmaceutical company though will test a drug for just one person. So Mary Saladino is on a mission. She's started a foundation is hoping to raise nearly $3 million dollars needed to privately test and produce a treatment for her little boy.
"It’s just the realization that if it's that expensive, we can do it. If I’m told money is the biggest hurdle, I’m going to find the money," she added.
Doctor Christelle Achkar is one of Henry’s doctors at Children's Hospital in Boston. While his condition may be rare efforts to find a cure for Henry could help other kids facing similar conditions.
"It might sound like one treatment for one person is not gonna change things. But it is paving the way for all of us bringing bigger groups together to think about treatment," Dr. Achkar said.
Even if scientists can’t find a treatment for Henry. He’ll have provided a roadmap for other families struggling with other rare diseases.
"We’re learning about epilepsy and genetics one patient at a time. And every patient matters," Dr. Achkar added.
For now, each day brings with it a new milestone for Henry Saladino and his family. Trying to move closer to a cure one step at a time.