by A A good day for Mary Saladino is when her three-year-old son, Henry, doesn’t suffer a life-threatening seizure from his extremely rare neurological condition, sufferers of which have been dubbed “human time bombs.”
And she says that a great day out with the family is as simple as allowing the youngster to spend a weekend of good weather seizure-free so he can get outside in the sunshine.
If that doesn’t happen, she will have to hold the boy in her arms as he suffers violent seizures that can temporarily paralyze him while she works desperately to save his life.
Henry suffers from childhood alternating hemiplegia, or AHC, for which the 1,000 sufferers worldwide have no treatment or cure.
But Ms. Saladino and her family hope to change that by discovering and funding a cure themselves.
Henry was born with childhood alternating hemiplegia, or AHC
(Maria Saladino)
In 2022, Mary and her husband Anthony, splitting their time between Vermont and Boston, established For Henry, a charitable foundation that aims to raise the $3 million needed to fund personalized genetic treatment for their son .
And if successful, it could become the first treatment for AHC and bring hope to other families battling the brutal disease.
Mrs. Saladino tells The Independent that the foundation has raised approximately $1 million so far and that it will have produced a “proof of concept” and agreed on a treatment by May.
Through the foundation and a GoFundMe fundraiser, the couple hopes they can achieve their goal and within a year Henry could receive ASO (antisense oligonucleotide) treatment, which can alter gene expression in the nervous system.
“We’re doing it alone, we’re almost there and now the money might be holding us back, we need the money to pay people so we’re not waiting. If we have the money, it can be ready in a year,” she said.
Mary and her husband race to cover the cost of treatment before their son suffers permanent and irreversible brain damage caused by one of his regular seizures.
“It’s a life-saving treatment. We’ve only had three days in the last 17 that he hasn’t attacked and every time he has an attack he stops breathing and I have to get him oxygen quickly. If his oxygen levels get too low, we need to revive him and call 911.” She explained.
“So we have these life-threatening symptoms on a daily basis. And what always hurts is that he has very few seizures, and he has them almost every day, where I’m like, “Okay, that’s okay, he’ll be fine.”
“Every time he attacks, which can be any moment of any day and is usually once a day, I have a feeling he’s not going to come out. It’s so traumatic.
“We’re trying to live normal lives and trying not to live in those emotions because if we did, how could we be reasonably compatible, functioning adults to give him a delightful childhood if he doesn’t have those events?”
Henry is one of only about a thousand people suffering from the disease worldwide
(Maria Saladino)
Despite the trauma from her son’s condition, Ms. Saladino still finds some humor.
“I joked that if he’s okay and we have treatment for Henry, we’ll work that out in therapy in five to 10 years. We will process the trauma when all our children are treated, but now is not the time.”
She says she knows of only a few sufferers worldwide who are past their 35th birthday, and that many suffer permanent brain damage and regression after the age of 10 before dying in their 20s.
“We’re running to save Henry’s life so he doesn’t have life-threatening symptoms and I don’t feel like I’m losing him every day,” she said.
“We are making every effort to save his quality of life as we may be able to live a more fulfilling life if we are not in the triage state.”
“We need to do this very quickly to treat him before one of those episodes that causes permanent brain damage occurs. We have to save his life and we have to do it now before we can’t change it.”
The family say many different things can set off an episode for Henry, from stress and excitement to simple things like a bath or sunlight.
The family say they are not racing to prevent Henry from developing life-threatening symptoms
(Maria Saladino)
And it explains why patients have earned the nickname “human time bombs.”
“It speaks to the frightening part of this disease where any symptom or all of them can appear at any time. They are all life threatening and even if they don’t take our children from us right now, they have the power to take parts of our children that we will never get back,” she said.
In a low voice, she explained the impact of the fight on her son’s future.
People with this condition are referred to as “human time bombs.”
(Maria Saladino)
“This disease defines every single moment of our day. Before Henry, and in a way since Henry, I was a Type A planner. I know what I do every day when the house is clean, but none of that happens in my life anymore.
“We may have ambitious goals for one day as I hope Henry doesn’t have a seizure in the morning so I can take him to preschool.
“Once he’s in preschool I’m literally sitting there with my phone in my hand hoping I don’t get the call from his nurse saying he’s been impounded and we need to go get him.
“There is no such thing as planning. Best thing that happens to us is a full day without symptoms, if we are very lucky we get one or two of them in a row and if we are absolutely lucky we get one of them on a nice weather weekend so we can enjoying it outside with the family.”
