A family is racing to raise $2.5 million to save their toddler, who suffers from an ultrarare neurological disorder that turns babies into 'human time bombs'

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. It could be when hes too hot, tired from climbing upstairs, or hes hungry or his brain was working too hard during therapy.Because of the faulty pump, Swoboda says, having AHC is like having seven neurological conditions at once: paralysis similar to a stroke, seizures like epilepsy, low muscle tone like cerebral palsy, movement problems like Parkinsons, neurodegeneration like Alzheimers, behavioral issues similar to attention-deficit/hyperactivity disorder and behavioral challenges like autism.Henry, who suffers from the most severe mutation, has a significant speech delay. He also has significant gross motor and fine motor delays, meaning he cant walk on his own and struggles to perform tasks like using utensils.While AHC foundations are currently pursuing other strategies including gene therapy and gene editing, nothing has been developed yet and an ASO treatment is still Henrys quickest and best chance to slow the inexorable progression of this disease, his neurologists say.ASOs are short strings of nucleotides that can be imagined as small strings of DNA or RNA letters that can interfere with RNA processing. Scientists will inject the ASO into a cohort of these mice to see which symptoms they improve and how well they improve them.After toxicology and animal testing to discover any safety risks, the chosen ASO will then be injected into Henrys spinal fluid.The biggest risk is unpredictable side effects, but thats why so much time and money is being spent on pre-clinical drug development to test for all potential toxicities until we can be as sure as possible that it is safe for Henry, Achkar said.This process of developing the treatment cannot continue without the remaining $2.5 million, which the family must raise on their own.Pharmaceutical companies arent as interested in helping if theres a much fewer number of cases, so when youre talking about an ultrarare condition like AHC, its not going to be profitable for pharma, Swoboda said.Once they have raised the money, according to Swoboda, it is expected to take between 12 to 18 months to complete all testing and hopefully treat Henry.I think hes still young enough to benefit, but if he has to wait another five years it might be too late to make a substantial difference, Swoboda said. The symptoms can strike at any moment including when he is sleeping.His family cannot go anywhere without his emergency bag, which contains oxygen, a device for resuscitation and rescue medication for seizures and paralysis, which dont always work.For the first time in three years, Saladino now sometimes drives with Henry but only to preschool, her eyes always jumping from the road to her rear view mirror in case he is on the verge of a seizure.Although she has nurses that help watch Henry, she finds herself unable to rest her showers last no more than a few minutes, and when he is at preschool, her fingers are glued to her phone in anticipation of the dreaded call that Henry is having an episode.But somewhere in the middle of incessant seizures and emergencies, the Saladinos have found joy.Theres beauty in that, those moments of in between, if we are having a good day or a good hour, and its a beautiful sunny day, were going to spend it at the beach or lake and be grateful for even one or two hours he doesnt experience an episode, Saladino said.