Family racing to raise money to treat toddler's rare and life-threatening neurological disease

BOSTON - In a quiet moment, Mary Saladino snuggles next to her sleeping three-year-old, Henry, soaking in his every breath, his hand draped on her neck.

It is the kind of moment that Mary would like to freeze because her loveable toddler's life hangs in a delicate balance.

Henry has a rare and dangerous neurological disease called Alternating Hemiplegia of Childhood or AHC which can paralyze half of his body, stop his breathing, and send him spiraling into life-threatening seizures.

AHC patients are sometimes referred to as "human time bombs," their symptoms leaving loved ones, like Mary, living in a hyper-vigilant state of terror.

"Right now, he's in a pretty nasty pattern. They're lasting 10 to 15 minutes which is really dangerous," Mary told WBZ-TV. "It makes life pretty challenging because you have to always be on watch for them and drop everything and rescue him with oxygen and medicine."

Even at night, Mary and her husband Anthony stay guarded. Henry sleeps in their bed, hooked to a pulse oxygen machine. The couple worries that the machine may not catch a night seizure, so they stay close to feel his body.

For Henry and the Saladinos, time is everything. Mary and Anthony constantly worry that a seizure could irreversibly harm Henry's brain, or worse.

"We just have to love Henry and absorb him and give him all of our love today and also do everything to fight for a better tomorrow for him and everybody with AHC," Mary said.

THE RACE TO TREAT HENRY

When we first met Henry, he was two and living in the South End of Boston. Mary was frantically calling scientists and labs while trying to fundraise the roughly $1 million needed to get a potential treatment for Henry off the ground.

More than one year later and the Saladinos are midway through their quest. They began the development of a treatment called an Antisense Oligonucleotide or ASO for Henry. Scientists believe that bad protein created by a genetic mutation in Henry's cells is causing his disease. An ASO could knock that protein down.

"This would still be a huge success not only for Henry but for a lot of other patients with AHC but also for the neurology community as a whole because that will continue to show us the different ways we can manipulate the ASOs," said Dr. Christelle Achkar, Henry's neurologist at Boston Children's Hospital and an expert in ASOs.

A sample of Henry's cells are now in the hands of Dr. Alfred George and a team of scientists at Northwestern who are injecting them with potential ASO candidates. If good candidates are found, the ASOs will be injected in animals for toxicology.

If an ASO works for Henry, it could be good news for others in the AHC community.

"If you have the genetics that would be very similar to a patient like Henry then you have a similar targetable location within your genome. So, if that's the case, we may be able to treat more than one patient. We may be able to treat several patients," said Simon Frost, whose daughter Annabel also suffers from AHC.

Mary and Anthony now find themselves in a state of cautious optimism with a giant price tag looming over them. They are in charge of raising the nearly $1.8 million remaining to develop the ASO as no pharmaceutical company will take on the risk of developing a drug for just one patient.

The Saladinos formed a non-profit called For Henry AHC and frequently share their heartfelt and heart wrenching journey on Instagram.

They worry that a delay in raising the money could delay the development of a treatment.

"I would say it's a full-time job, so I feel sometimes like I wear three or four hats," said Mary.

THE BATTLE WITH TIME

While fundraising and calling scientists, Mary and Anthony are trying to enjoy time with their son in their new home in Vermont, closer to family.

Henry has a significant speech delay and struggles with gross and fine motor skills. He can only take one or two steps on his own and struggles to use a utensil. Despite his physical delays, he understands everything that is said to him.

"We were actually told he might never walk, and Henry has continued to prove the world wrong in terms of what he's capable of," said Mary.

The Saladinos celebrate the milestones and try to find joy in every minute even as fear follows them.

"We have to pursue this treatment and any others, run as fast as possible towards them to save time," said Mary through tears. "Or we lose Henry tomorrow, which is not going to happen, and we know we made the most of the present."