Desperate family races to raise $2.5m to fund experimental therapy for toddler

A desperate family races against time to fund a multimillion-dollar experimental treatment for their son, who has a rare condition that could kill him at any time.

Henry Saladino, three, suffers from alternating hemiplegia of childhood (AHC)a brain disorder that causes him to have up to 30 seizures a day, paralyzing him for days.

Patients with AHC – for which there is no cure – are sometimes referred to as “human time bombs” because one of the attacks can shut down their breathing, cause irreversible damage or death.

Mary and Anthony Saladino launched the non-profit organization For Henry and an ambitious GoFundMe page to raise $2.5 million that will be critical to developing a therapy completely from scratch.

When Henry was born, he was having about three to five seizures a day. Henry’s seizures are now as frequent as every five minutes to an hour, totaling somewhere between 10 and 30 a day (pictured after one of his seizures)

AHC is just one of many degenerative neurological conditions for which there is no cure.

Parents have no choice but to take matters into their own hands and fund research for a cure for a rare disease that the pharmaceutical industry would otherwise not invest in.

At nine weeks old, Henry was diagnosed with AHC, caused by a rare gene mutation that caused spontaneous seizures, up to 30 a day, and stiffness that caused him to menstruate without breathing.

He would go too paralyzed for seven to ten days on one or both sides of his body.

His parents described him as a sweet boy who could go from dancing and singing with his parents one minute to limping and partially paralyzed with seizures, unable to breathe or move.

Bathing and bright light are both triggers, so are kept to a minimum, but especially stressful or tense moments also throw him off. For example, holidays and birthdays can be life-threatening.

AHC expert and Henry’s former neurologist Dr. Kathryn Swoboda told CNN: ‘AHC is the worst illness I have ever dealt with in terms of stress level, both for parents and doctors.

Episodes can strike at any time and it’s not immediately clear when an episode becomes catastrophic and requires a hospital visit or urgent intervention.

“They need to reconsider everything. You can’t take them to a mall with bright lights and excitement. If you take them to a pool and it has cold water, they may go down. If they get too excited before their therapist comes along, they become paralyzed and unable to do their therapy.”

Always on the alert for a potentially fatal episode, Henry’s parents carry an emergency bag of oxygen, a CPR device, and rescue medication for seizures and paralysis that aren’t guaranteed to work 100 percent of the time.

Ms Saladino told CNN: “When you feel the fear that you are going to lose your child, you must ask yourself what I would like to give him as his mother 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 is his oxygen level? Should I resuscitate him? Did I give the first dose of rescue medication?”

Henry also undergoes other types of weekly therapies to combat his fine and gross motor and speech delays – occupational therapy, physical therapy, speech-language pathology, nutrition and music “and works hard for every milestone,” according to his parents.

The vast majority of AHC cases are caused by a mutation in the ATP1A3 gene, which causes cells in the brain to function differently than normal.

They can no longer move sodium and potassium through the wall of the cell as usual.

The faulty sodium-potassium pump means that Henry is essentially dealing with seven neurological problems at once: paralysis such as stroke, seizures such as epilepsy, low muscle tone such as cerebral palsy, movement problems such as Parkinson’s, neurodegeneration such as Alzheimer’s, behavioral problems such as ADHD, and learning disabilities such as autism.

With the money raised so far, the Saladinos are working with scientists and gene therapy labs to develop a therapy known as “antisense oligonucleotides” (ASOs) from scratch.

An ASO is a small piece of DNA that can bind to specific molecules in the body and change the way they work.

The goal is that the ASO will work by “knocking down” the toxic protein that causes Henry’s potentially deadly symptoms.

A team of researchers led by Northwestern University pharmacologist Dr. Alfred George is currently testing them in Henry’s neurons derived from blood samples to determine which ASO works best.

A research team in another lab will test the ASO in mouse models with the same mutation as Henry.

Once the therapy has been shown to have improved the mice’s symptoms without causing harm, the therapy is injected into Henry’s spinal fluid.

The ASO treatment is still Henry’s fastest and best chance of slowing down the inexorable progression of the disease.

There is no conclusive evidence yet that AHC kills or shortens life expectancy, although it does reduce quality of life.

Since it is degenerative, patients often lose most of what they learned as a child, such as walking, talking, and eating independently.