My son's a 'human time bomb' with 7 serious neurological conditions — but I won't give up on finding a treatment
Mary Saladino's son has a genetic condition that causes seizures and severe breathing issues.
The family wants to raise $3 million to fund a gene therapy that could treat him.
This is Saladino's story, as told to Jane Ridley.
This as-told-to essay is based on a conversation with Mary Saladino. It has been edited for length and clarity.
Since my son, Henry, was born three years ago, I've lost count of the number of times we've called 911 and been driven, sirens blaring, to the hospital.
Whenever it happens — whether it's once a month or twice in one week — I'm terrified we're going to lose him forever.
Henry's brain disorder is extremely rare; it affects one in a million children. The diagnosis is a combination of seven serious neurological conditions: paralysis like with stroke; movement problems like with Parkinson's; seizures like with epilepsy; low muscle tone like with cerebral palsy; learning challenges like with autism; behavioral issues; and neurodegeneration.
We have to watch Henry every moment of the day in case he has a seizure
The medical term is alternating hemiplegia of childhood, or AHC. Doctors have called babies with the condition "human time bombs." They could die at any moment; they could stop breathing, have a massive seizure, or become paralyzed. Only a handful of people with the condition are known to have reached middle age.
We need to monitor Henry every second of every day to spot the warning signs of a seizure. They require immediate intervention, whether that's putting medication in his mouth and attaching him to a pulse oximeter, using a resuscitation bag, or, at worst, doing CPR and dialing 911.
Henry was diagnosed with AHC when he was 9 weeks old. He stopped breathing as soon as he was born at 37 weeks, turning blue when he was given a bath.
There were a lot of issues. He spent a week in the NICU, but the tests found nothing. Then, with no real medical intervention, he was discharged.
He was fine for a month. But when he was 5 weeks old, he had two seizures within three days. When I bathed him in the sink, he went stiff, his eyes turned up, and he seemed unconscious. I put him inside my bathrobe, skin to skin. I was freaking out.
Henry has a genetic mutation that causes a range of neurological problems
"Newborns do funny things," the pediatrician said. "If it happens again, take a video."
The next episode was on a play mat. The right side of his body was stiff, his arm was jerking, his eyes were fixed, and his tongue was thrusting. He had very obviously gone into a seizure. We had a video to prove it.
An EEG confirmed seizure activity, and Henry was diagnosed with benign epilepsy of infancy. By the time he was 7 weeks old, he was seizing every day. It was frightening. My only instinct was to hold him and be as calm as possible. I'd soothe and sing to him while my husband, Anthony, called 911.
We had blood work done, and when Henry was 9 weeks old, we were told to meet with a genetic counselor. She said he had a mutation in the ATP1A3 gene. The mutation happens at random during fertilization. The counselor said the condition would result in the symptoms of the seven neurological disorders and get progressively worse.
I was trying to process what she was saying. For whatever reason, I said, "But when he's 16, he's going to drive, right?" She said: "Probably not. There are no treatments and no cures."
Tears were falling down my face as I held Henry in my arms. I remember trying to physically shield him from her words. I said to the counselor, "He has this horrible condition with no treatment or no cure — but that will not be his life."
Thankfully, Henry's doctor was more optimistic despite the lack of research into AHC. "There's a spectrum of developmental outcomes and the severity of symptoms," she said. "This is still your child; this is still your son. He's going to show us what this disease looks like for him."
She told us he was going to have life-threatening symptoms. Transitions — such as moving from darkness into sunlight, having a bath, smelling something different, or hearing a loud noise — can trigger prolonged seizures. The paralysis can last for weeks.
We got the pulse oximeter and learned CPR and how to administer oxygen. Henry always sleeps in our bed, so we can feel him kick before an episode. We know that when the situation gets serious, we should call 911. We minimize transitions and make them as smooth as possible.
We need to raise $3 million to help find a treatment for Henry and AHC
Developmental delays are part of his diagnosis. He has a speech delay but no cognitive delays. He's almost walking. But at any given point a symptom could cause permanent regression — a sign of untreatable brain damage. We're in a race against time to treat him.
We're doing everything in our power to keep Henry safe every day. We know the science is there to develop a cure; it's a matter of money.
We're determined to raise $3 million to fund a type of gene therapy that could save Henry's life. The finances associated with running a clinical trial and getting FDA approval are huge. But the scientists are making progress. It's incredible because while we're designing the treatment for Henry's AHC, there's a high chance it will work for other diseases. It holds a lot of promise.
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