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Boy, 10, Battles Ultra-Rare Genetic Disorder
2 Mar
Summary
- Frankie, 10, diagnosed with rare H-ABC genetic disorder at age five.
- Doctors gave a bleak prognosis, stating 'nothing can be done'.
- H-ABC Foundation UK supports families and funds vital research.
Amy Sheridan-Hill's son, Frankie, was diagnosed with H-ABC, an exceptionally rare leukodystrophy, at five years old in 2021. Doctors delivered a devastating prognosis, stating "nothing can be done" and he was unlikely to survive his teens.
Frankie, now 10, was born healthy, but developmental delays, including not walking by age four, led to extensive testing. H-ABC affects the brain's white matter, with fewer than 200 documented cases globally as of 2019.
Motivated by the lack of support, Amy, alongside other mothers, established H-ABC Foundation UK. The charity funds research and aids families with essential equipment and support.
This foundation has connected families and provided crucial emotional support. It also helps finance research, with a candidate drug now selected for clinical trials, potentially slowing disease progression.
While no cure exists, treatments like physiotherapy and medications help manage symptoms. Frankie currently receives intensive therapy and uses various aids to maintain his strength and quality of life.
Frankie enjoys mainstream school, where teachers and classmates provide exceptional support. His mother hopes upcoming treatments will significantly alter his future, offering hope to other families facing this rare condition.
