PDH disorder

[Guest guest]

My daughter Gaby is almost 10 years old. She has infantile onset Pyruvarte

Dehydrogenase Deficiency, and was not expected to see her first birthday!

She has multiple problems, but her turning point was getting her gastrostomy

and commencing the ketogenic diet.

Gaby has significant developmental delay, and associated medical problems.

She is presently stable, appart from orthopaedic problems due to her CP. She

has few words, but has a remarkable memory and can sing around 100 songs and

nursery rhymes. She is delightful!

I am always happy to chat with others caring for children with this

disorder. Like all mito disorders, the presentation and progress will vary

reatly from child to child.

ne, In Australia.