[leah]

my 22 month old is now being tested for sucla and i am having a hard time finding information or life stories about this or finding other families with a similar story. WHAT IS SUCLA ??? he is b12 deficient and has been treated since 10 months of age with injections. his recent mri showed normal brain formation and his past lumber puncture came back clear. his muscle skin and liver biopsy came back with no evidence of a mitochondrial disorder but his metabolic specialist still suspects a mito problem... ?????????
he suffers with low tone in his truncal area and therefore significant motor developmental delay. he is quite unbalanced and wears afos for leg support. he cannot walk but is very active, stands holding onto furniture and likes to climb. most of his delay is physical although he is also significantly delayed with his speech only saying mama dada baba and squeeling instead of babbling. for his first year he was quite visually impaired, tremored, startled etc... until eye surgery on both eyes opened up a whole new world for him to discover. it worries us that he may be experiencing siezure activity as his eyes often roll back. neurologist thinks this is a muscle control issue rather than siezure as he is not tired afterwards, eeg has been requested.
he is so incredibly gorgeous, so hard to test and test and test with no diagnostic result.
we welcome any reply !!!!
leah