The Early Days
Henry was born three weeks early on January 17, 2020. We were delighted to hear his cry, though we quickly knew something was wrong as the room hushed. We did not know it at the time, but Henry was experiencing his first symptoms of AHC, as upon the transition of entering the world, Henry needed some additional breathing support. Later, during his first day of life, Henry had more difficulty breathing and turned blue, and at times held a fixed stare. His team felt it best to transfer us to the closest children's hospital so Henry could be admitted to the NICU for further observation for breathing issues and suspected seizures.
After a week in the NICU with many tests including EEGs, MRIs, and infectious workups, we were told that nothing abnormal was found and Henry was ready to go home. We spent four glorious weeks at home with Henry, enjoying his every new facial expression and many snuggles before our current journey began.
At five weeks old when Henry’s mom Mary took him out of the bath, he became stiff and seemed to go unconscious. This episode lasted for one terrifyingly long minute before Henry returned to himself, but we knew something was not right. Three days later, we put Henry down under his playmat and he went into his first tonic clonic seizure as his right side got stiff, his arm began jerking, his eyes were fixed, and his tongue began to thrust. This seizure lasted nearly 15 minutes and we rushed him to the hospital.
After an EEG confirmed Henry did indeed suffer a seizure, we started what would be the first of many antiepileptic drugs and we were given the diagnosis of benign epilepsy of infancy. We were devastated that seizures were now a part of our lives, but hopeful that he would grow out of them. We went home armed with a rescue plan and rescue meds.
A few days later, Henry had another seizure and we used our rescue plan for the first time and went back to the hospital. We left with an increased dose of medicine and were told that it can take a bit for a drug to get to a therapeutic level. A few days later, he seized again. This time, we added another drug to his regimen in the hopes it would work better.
A few more days later, around 7 weeks old, Henry had yet another seizure. This time, his neurologist suspected the cause was genetic as the pattern of seizure activity had shifted sides in Henry’s brain. We took a blood sample for genetic testing and we were told it could be 12 weeks until we got a result.
Ten days later, when Henry was 9 weeks old, his neurologist called. The results came back, abnormal. We knew the cause as he had a genetic mutation on his ATP1A3 gene. We didn’t know for sure what this meant for Henry yet, as he hasn’t presented with any other symptoms besides seizures. Our neurologist told us time, and Henry, would tell us what this abnormality meant for his life.
A Terrifying Diagnosis
We then met with a genetic counselor who gave us the most devastating news we would ever receive: Henry’s specific mutation, E815K, was linked to a disease called Alternating Hemiplegia of Childhood or AHC. This disease was a one in a million rare, neurological disease for which there was no treatment or cure. She said based on what they know about Henry’s mutation, it is the most severe, and he might never walk or talk. In addition to seizures, he will suffer a variety of neurological symptoms, including temporary partial or full body paralysis impacting his ability to eat and safely swallow, breathing issues such as apneas, and abnormal eye movements, tremors, or painful stiffening of his body called dystonia. Any and all of these symptoms can occur at any time, without warning, and could be triggered by environmental changes such as change in temperature or light, or exertion like tummy time or sitting up, or excitement if many people were around. Or, they could occur for no reason at all. Any of these “episodes” could also cause temporary or permanent regression in any skills Henry has learned. The counselor could not tell us what Henry's prognosis was in terms of development - it was a wide spectrum and no one knew - but likely he would struggle with gross and fine motor skills and speech at the very least.
As we cried in the exam room upon hearing this news, we vowed not to let this disease take our child from us.
We spent the next few months connecting with other parents, our two organizations (CureAHC & AHCF), and expert doctors in an effort to learn as much about this disease and what we might expect. We became armed with knowledge, more rescue plans, and supply of home medical equipment including a pulse oximeter machine, supplemental oxygen, suction devices, and an ambu-bag. We relied on our doctor’s hopeful advice that we had to be prepared for the worst while hoping for the best and going by what Henry tells us in terms of when he needs support.
During this time, Henry continued to have 3-5 seizures or seizure like episodes weekly, preventing us from even taking him out of our darkened, quiet, bedroom, for we learned that simply bringing him into our well lit living room or putting him down for tummy time would cause an episode. We lived in constant fear of episodes occurring at any moment, and they did.
At 6 months old, Henry’s apneas began. He would randomly struggle to breathe, turning purple or blue, and we would rush to give him oxygen and monitor his saturation and heart rate. At times, we could rescue him and at times we could not and would have to call 911. These apneas occurred 3 days a week, starting on the evening of the first day, persisting hourly on the second day, and concluding in the morning on the third day for the next 10 months of his life. We frequently landed in the ER or ICU once a week on the worst day of apneas for additional rescue meds and breathing support. We could not go anywhere without Henry’s oxygen, rescue meds, and ambu bag as we were unsure of when these apneas would hit.
At 9 months old, Henry’s paralysis began. Often, his right or left arm would suddenly stop working and become weak and this paralysis would last for 7-10 days. Henry would be extremely tired during this time and often have difficulty swallowing when the paralysis affected his head, neck, and mouth. At times, this paralysis would progress to full body paralysis, lasting a total of 7 days, which would land us in the hospital for feeding support.
At 12 months old, we started a non-FDA approved drug to help with his paralysis. We went from experiencing paralysis 14+ days a month to 4-6 days a month. A huge victory.
At 16 months old, we started Henry on the 7th antiepileptic drug he had been on in an attempt to control his frequent apneas, by this time occurring one day a week every hour. It worked for 5 weeks before we had to stop it due to it damaging his liver. We were devastated.
At 18 months old, Henry’s apneas returned during this time and came back with a vengeance. They occurred every 5-10 minutes one day a week every week and often landed us back in the hospital by noon for more rescue meds and breathing support.
At 2 years old, Henry’s tonic clonic seizures seem to be under control, only occurring when his other symptoms of apnea and hemi or quadriplegia are not controlled. Henry still has apneas for one long day every week and they occur as frequently as every five minutes to an hour totalling anywhere from 10-30 a day. Henry’s hemiplegia occurs at least once a week, usually with just an arm being out, and we rush to soothe or rescue him so the paralysis doesn’t worsen.
We live in fear every day not knowing what symptoms might hit. We fear he will have a tonic clonic seizure we won’t be able to stop, or that his paralysis will be so severe and prolonged that it will lead to temporary or permanent regression. We fear his apneas might never be fully controlled on any anti epileptic medicine and we will always have to support him with oxygen weekly.
We never take a good moment, hour, or day for granted and try to live life to the fullest during the days in between symptoms. Henry loves to take walks outside in his stroller, play with his water table in the backyard, dance to music, and eat lots of delicious food.
In addition to his frequent routine appointments and unexpected hospital visits, Henry has 5 therapies a week: PT, OT, SLP, feeding, and music and works hard for every milestone. Currently, he has mild delays with fine and oral motor feeding skills and a moderate delay in gross motor skills as he is not yet able to walk independently, though he enjoys holding our hands and marching us around the house. Henry has close to 50 words and is a big fan of dinosaurs. Henry’s most favorite activity is listening to music and dancing, or, cheering for himself and saying “Good job” when he has done something spectacular, which is often. Henry tends to make an impact on everyone he meets, surprising and inspiring them with his joyful, happy, resilient attitude and in the progress he continues to make after experiencing such severe symptoms.
If we live our life based on what Henry tells us, it promises to be joyful, full of laughter, dinosaur noises, and dancing. If we live our life based on what AHC tells us, it promises to be challenging, terrifying, and life threatening.
We are determined to develop a treatment as quickly as possible to ensure that Henry’s life can be as full as possible, and that his days are not dictated by mitigating symptoms, ambulance rides, and multiple hospital visits a month.
There are no words for us to express our gratitude to those who have been with us on this journey, and to those of you who are just beginning. Please help share our story and raise funds for this treatment For Henry.