Kevin and Amy Young, parents of a young boy named Jack with KAT6A syndrome, talk about their son’s diagnostic journey.

KAT6A syndrome is an ultra-rare genetic condition due to a mutation in the KAT6A gene. KAT6A syndrome patients vary widely in terms of symptomatology but the more common symptoms include developmental delay, intellectual disability, gastrointestinal problems (e.g., feeding difficulties, constipation, acid reflux), speech and language deficits, vision problems, and hypotonia. 

According to Mr. and Mrs. Young, their pregnancy with Jack was fairly normal, with very little to indicate a problem like KAT6A. However, when Jack was born, he had trouble getting enough oxygen and had sagittal craniosynostosis. At 3 months, Jack had surgery for the craniosynostosis but, as his parents note, they knew something was still wrong. The biggest indication was that he seemed to have blunted affect. Additionally, around 8 months, they discovered that Jack had an abnormally narrow airway which led to him being intubated for collectively 13 days. During one of Jack’s hospital stays, a geneticist was brought in, screened for KAT6A syndrome, and Jack was diagnosed.

For more information about KAT6A syndrome, visit www.kat6a.org 

For more information about this and rare genetic conditions, visit checkrare.com/diseases/neurology-nervous-system-diseases/