ELOuise’s STORY
We started the Foundation to Fight H-ABC in 2015, shortly after our daughter, Elouise, was diagnosed with Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC). H-ABC belongs to a group of over 50 conditions called leukodystrophies, which are diseases that affect the white matter of the brain. These diseases disrupt the growth or maintenance of the myelin sheath, a protective layer that insulates nerve cells and allows for the transmission of messages between cells.
Knowing that there are other children and families out there experiencing the same unknowns as us and that there is currently no known cure is what drove us to action.
A parent’s worst nightmare
Born in 2005, Elouise initially showed no symptoms of any neurological disorders. She began walking, running, and playing just like any other happy, healthy child her age. Then, at around age 3, she started to pull up her right arm when running. An MRI showed delayed myelination and an undersized cerebellum, which began an endless journey of test after test. Eventually, Elouise was diagnosed with H-ABC, a rare genetic disorder with no known cure—a parent’s worst nightmare…
Over the years, Elouise’s condition has continued to worsen. She can no longer stand, bathe, eat, or get dressed without help and has lost her ability to walk. Her inability to speak clearly also impairs her communication. Further, a condition called dystonia causes uncontrolled muscle movement in her arms and neck, which—as you can imagine—is extremely painful.
As there is currently no cure for H-ABC, doctors can only treat the symptoms, not the cause. Along with muscle relaxants, Elouise receives quarterly Botox injections to help calm her muscles; however, this treatment is becoming less effective over time. She underwent surgery for partial hip subluxation and spinal fusion due to the force this disease exerts on her muscles. More recently, she had a feeding tube implanted in her stomach as the disease affects muscle tone, which in turn affects eating and choking.
