Boston Family Is Fundraising for Treatment for Son, 2, Who Has Rare Disease: 'Terror and Grief'

Henry Saladino suffers from Alternating Hemiplegia of Childhood (AHC), a rare degenerative neurological disorder that causes life-threatening seizures, paralysis and breathing difficulties

Photo: courtesy Saladino family

When her son Henry was just five weeks old, Mary Saladino had a scary experience.

"I was taking him out of the bath when he got stiff and went unconscious," she tells PEOPLE. "Although he came to within about a minute, I knew something was wrong."

Three days later, she and her husband Anthony put Henry under his play mat — and he started seizing. "It was a very obvious seizure affecting the right side of his body," Mary, 33, says. "His right eye was deviating, his tongue was moving in and out, and he was definitely not fully conscious."

After doctors ordered an electroencephalogram (EEG) to examine his brain, Henry was diagnosed with benign epilepsy of infancy. He was put on an anti-epileptic medicine. Over the next week, Mary says, "He seized every other day."

"It was pure terror and grief," she recalls. "It was hard for us to sleep. I would hold his hand the whole night because I was just so worried he was going to stop breathing or seize."

It took many more seizures and visits to Hasbro Children's Hospital in Providence — the Saladinos were living in Newport, Rhode Island, at the time — to learn from a neurologist that Henry's condition was not, in fact, just epilepsy, but likely a more complicated genetic condition.

courtesy Saladino family

Henry underwent genetic testing. "The neurologist said there was an abnormality," says Mary, a former assistant principal. "And I remember saying to him, 'Is it as bad as' — and I named some conditions that I had Googled at 2 a.m. — and he didn't say yes or no. He said, 'We don't know yet. We need to learn more.' "

Confirmation came from a genetic counselor a few hours later: "I'll never forget these words," says Mary. "She said, 'Your son has a disease called AHC, and it's unlikely he'll ever walk or talk."

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder resulting from a gene mutation. It causes repeated episodes of weakness or paralysis and can be triggered by anything, from environmental conditions like temperature or bright lights to loud noises or emotional disturbances. As of now, there is no known treatment or cure.

However, a treatment might exist — it just needs to be discovered. The Saladinos, who now live in Boston, have started a nonprofit, For Henry, to raise $3 million to fund and develop an ASO (antisense oligonucleotide) treatment. ASOs are used to reduce or increase protein expression in the nervous system, depending on the particular mutation and how to correct it. "We think an ASO can knock down Henry's mutation, which we believe is poisonous," Mary says.

Pharmaceutical companies have no financial incentive for clinical trials for rare diseases, so it's left to the families themselves.

"We are serving as a biotech company but we are just a public charity," she explains. "We are pushing the research, we are hiring the right people, we have identified the right labs, we are contracting them to take this from research and discovery all the way through clinical trials. That's where the fundraising comes in."

According to the nonprofit's website, the FDA has approved about ten ASO treatments for genetic disorders and there is a precedent for such treatments to go from idea to injection in under one year. This means Henry could be treated with an ASO in the next 12-18 months, changing his life forever.

It creates a sense of urgency, Mary says: "This is as high-stakes as it comes." The family also has a GoFundMe.

courtesy Saladino family

Now 2, Henry has seizures several days a week and has to be watched constantly. Partial or full body paralysis can impact his ability to eat and swallow, and he can also suffer from breathing issues such as apneas. The Saladinos have to be ready to administer oxygen at any moment. They must monitor his heart rate for signs of duress. Henry often stays in his quiet, dark room to avoid triggers.

"Not only are we battling this horrible disease where anything could happen at any moment and it could cause permanent regression, we're also battling a disease that is degenerative," Mary explains. "So we know if we can't or don't intervene, he will not be living independently or walking independently in probably eight to 10 years."

That's why an ASO treatment could make such a difference in Henry's life: "If he's treated in the next year and a half, this means he might not have seizures anymore, or he might have one every six months," Mary explains.

"The research that we need to fund — and the systems we are putting in place to lead to the development of this drug — can benefit the entire AHC community," says Mary. "It will expand the portfolio of options for other patients by forging a path."

In the meantime, Mary and Anthony don't leave the house without Henry's pulse oximeter, oxygen, bag valve mask and rescue meds in case of emergency. He is currently on his tenth anti-epileptic drug in an attempt to control his life-threatening seizures.

courtesy Saladino family

But Henry's spirit keeps the family going. "Henry is the most engaging, joyful, flirty, sweet, loving, funny little boy," Mary says. "He will have many seizures back to back and need to be resuscitated only to recover and smile at everyone around his bed. He will seize all morning and then just want to play outside in the sun in the afternoon."

It's why the family will keep fundraising for treatment, even though it comes with a hefty price tag.

"The challenge with rare disease is that you have to be the ones to push the research and to fund it and to raise the awareness," Mary says. "But to be in that position is actually a lucky one. We're privileged that we can pursue options."

At the end of the day, it's all they can do. "Putting all of our energy into this is really the only path forward for us," she says.