A Vermont mother shares her experience of how a common cough led to the diagnosis of her baby's rare, incurable, and deadly disease. Christian Leduc was diagnosed with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), which is a severe form of TUBB4A leukodystrophy - a rare, debilitating and life-threatening genetic disease that mainly affects babies and children. The disease disrupts myelin surrounding nerves, leading to interruption of signals between nerve cells in the brain. Currently, there is no cure for this condition.
Beth Leduc said their world was turned upside down when her then-five-month-old son developed a nagging cough that lasted for weeks. They had to keep taking him to see the doctor until one day; his doctor noticed that he couldn't support his head properly. Further tests revealed that Christian had respiratory syncytial virus (RSV). While at the hospital, Christian underwent a series of genetic tests, including an MRI scan which revealed his condition.
Leukodystrophies affect 1 in 7,663 births, meaning