Editor’s Note: This article contains an image of someone having a seizure.
CNN
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Mary Saladino spends most of her days holding her son in her arms while he violently seizes, whispering to him as she frantically tries to save his life. Nearly every day she witnesses her baby waver on the brink of death, not breathing and often paralyzed.
Her 3-year-old son, Henry, suffers from alternating hemiplegia of childhood, or AHC, a rare neurological disorder whose patients are referred to as “human time bombs.” At any moment, Henry can stop breathing, have a life-threatening seizure or become paralyzed – and there’s no way to know when it will happen or if he will survive.
No treatment or cure exists for AHC, which affects one in a million people globally, according to AHC expert and neurologist Dr. Kathryn Swoboda, and families of patients with this unpredictable disease never stop watching for signs of an oncoming episode. As soon as it strikes, they must act quickly to administer lifesaving measures.
“When you’re feeling that fear you’re going to lose your child, you have to be thinking what would I want to give him as his mom if this is it? I want him to hear how much we love him, but also oh my God, I have to save him, what’s his oxygen level? Do I need to resuscitate him? Did I give the first dose of rescue medication?” Saladino told CNN. “It’s an unbelievable amount of trauma and it’s going to happen over and over again, no matter what we do, until we develop this treatment.”
Despite its name, AHC does not affect people only during childhood. It only worsens with age, according to Swoboda, with patients often losing most of what they learned as children, such as walking, talking and eating independently.
In 2022, Mary and her husband Anthony launched the nonprofit foundation For Henry to raise $3 million for a genetic treatment that, if successful, could be the first to treat AHC and pave the path for others living with the disorder to receive treatment.
Through their foundation and GoFundMe fundraiser, the Saladinos are raising the remaining $2.5 million needed to design from scratch an antisense oligonucleotide, or ASO treatment, which would knock down the toxic impact of a genetic mutation that is causing the…
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