At Aubrey's three-month check up her paediatrician noticed she was hypotonic (floppy) and referred her to a physical therapist and neurologist. Around the same time Aubrey began having debilitating “episodes” that included erratic eye movements, limp or tense posturing, and reduced consciousness. One afternoon Aubrey became unresponsive and unable to move while breathing abnormally. An ambulance was called but when the paramedics arrived all Aubrey’s vitals were normal and she was back to herself. There were more questions than answers for everyone involved.
The next 6 months of Aubrey’s life would be consumed by emergency rooms visits, doctor appointments, and numerous tests (3 EEG’s, 2 ultrasounds, 1 CT scan, 1 MRI, numerous blood and urine analysis). Her medical team would grow to comprise a paediatrician, geneticist, neurologist, ophthalmologist, neuromuscular doctor, physiatrist, and cardiologist. Her neurologist was thorough in her investigation and genuinely perplexed by Aubrey. After ruling out more common disorders due to her brain structure being normal and no seizure activity being found during the EEG’s, she moved on to genetic and metabolic disorders, which Cam and Tess quickly learned can be more frightening than anything they had previously considered. The genetic exome test was administered and the waiting game continued.
Aubrey was born on July 3rd, 2020 in good health and discharged from the hospital with no concerns. During the first few months of her life Aubrey had occasional strange eye movements and would tense up her body, hold her breath and then grunt loudly as if trying to push out a bowel movement. Tess and Cam, as first-time parents, weren’t sure what to think but they were assured by doctors and clinical nurses that these were typical observations for an infant in the early stages of her development.
Cam and Tess started doing their own research, familiarizing themselves with different disorders whose symptoms matched those of Aubrey’s. As they got further and further into it, they never quite found something that was an exact match. Some symptoms would fit where others did not. It wasn’t until April 2021 that Tess came across a case study of a young boy the same age as Aubrey. The symptoms were exactly, to a tee, what Aubrey was experiencing. Even the timeline was the same. As she read further and further her heart sank more and more. Alternating Hemiplegia of Childhood. This was it. Further research revealed that it was a devastating neurological disease with no cure that would have an impact on Aubrey’s quality of life. The one thought for hope to cling to was the one in a million probability that Aubrey had this disease. With those odds Tess and Cam thought, “surely this couldn’t happen to us”.
Two weeks later, on May 14th 2021 Aubrey’s geneticist called with the results of the exome test. Tess and Cam will never forget that day when she confirmed their greatest fear. Aubrey had the ATP1A3 genetic mutation responsible for Alternating Hemiplegia of Childhood. The exome also revealed that Aubrey has the E815K variant of the ATP1A3 gene mutation, which is commonly associated with a more severe prognosis. No words could describe the shock, devastation, and heartbreak. Their worlds were turned upside down in an instant. All the hopes and dreams Tess and Cam had for their daughter, and their family, had been altered beyond comprehension. In a blink of an eye Aubrey’s future was now uncertain. Would she walk? Would she talk? Would she die? And so began the journey to do everything possible to achieve the most favourable outcome.
Shortly after receiving the diagnosis Aubrey began taking the AHC “drug of choice” Flunarizine daily, which has helped to reduce the frequency and duration of prolonged episodes of paralysis that can leave her unable to move, eat, or swallow. Initially occurring every one to two weeks and lasting for a week, these episodes now occur typically once per month and last four days or less. More recently she’s started to have short bursts of dystonia (uncontrolled muscle spasms), throughout her body. Despite Aubrey’s agonising symptoms, even on the worst of days, her sweet and easy-going personality shines through and she shows everyone day after day how strong and determined she is. She continues to see multiple physical therapists, an occupational therapist, a speech language pathologist, and most recently a neuro exercise specialist. She continues to get stronger and stronger and gain “inch” stones that are celebrated by all.
Currently her good days far outnumber the bad, but we know how quickly this can change. AHC is unpredictable and an episode can come without warning for no apparent reason and have irreversible effects. We learned right away that Aubrey’s story is similar to so many other families across Canada and around the world living with AHC. Life with AHC is always being on call and cancelling plans on short notice. Life with AHC is not knowing when and how severe the next episode will be, and when it does happen, how long it will last. Life with AHC is helplessly watching our child trapped in a lifeless body and suffer excruciating pain. Life with AHC is going to multiple appointments every week. Life with AHC is watching our child miss milestones and fall behind their peers. Life with AHC is observing impact to our child’s development. Life with AHC is facing the possibility of declining health and severe life-threatening outcomes. Life with AHC is trial and error; winning some and losing some.
Life with AHC is also living with hope. There is a path to viable treatments and a cure, but we need your help to get there.