Kevin and Amy Young, parents of a young boy with KAT6A syndrome, discuss the current management strategies for this rare disease.
KAT6A syndrome is an ultra-rare genetic condition caused by a mutation in the KAT6A gene. Common symptoms may include developmental delay, intellectual disability, gastrointestinal problems (e.g., feeding difficulties, constipation, acid reflux), speech and language deficits, vision problems, and hypotonia.
As Mr. and Mrs. Young explain, current management strategies primarily include occupational, speech, and/or physical therapy. There is no approved targeted therapy but some physicians prescribe “mitochondrial cocktails,” which are tailored to each patient and consist of a number of supplements such as carnitine, vitamin E and/or vitamin B.
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/