- S. Africa link

[Guest guest]

,

I have been following your posts and I do not really post too often, as my daughter Kayley died of Leigh's disease or mitochondrial encephalopathy in 2000. I am a South African living in Florida, USA. But my daughter was diagnosed in South Africa, we came to the USA in 2002. So I have some knowledge of mito information in SA and now of the medical system here. Firstly the information in SA is very limited and there are very few, even if any mito specialists. I would think that if Connor has lesions in the basal ganglia then the diagnosis should be tentatively called mitochondrial encephalopathy (encephalo = brain; pathy = disease). Here in the USA the medical system in very specialized, patients get to see a plethora of drs, while in SA a paed can manage the whole case, but I would recommend getting a paed who listens and is willing to try all options. But a referral to a paed neurologists and medical genetists would be a option. Did you have a confirmed diagnosis for achrondoplasia (dwarfism), skeletal X-rays, there is also a DNA test I think. I do not know if there is a lab in SA that can do the muscle biopsies for mito diagnosis. Kayley was diagnosed by MRI and then post mortem.

I have a friend who is a paed and is now in the medical genetics field and I could ask her for information about the latest in mito, drs & /or labs in SA, if you'd like.?

Take care

mom to ^ Kayley^ 03/16/00 - 09/23/00 Leigh's diseaseSinead age 6, healthyhttp://myweb.ecomplanet.com/MCMA8011Kayley's mitoangel friends http://jennymc3.tripod.com/mitoangel.html

"When someone comes into our lives.....and they are too quietly and quickly gone they leave footprints on our hearts and their memory stays with us forever."