Re: - S. Africa link

[Guest guest]

I am sorry to hear there are so few good resources available to you in South Africa. Here in the states we do not have lot but at least some of the leaders in the field. The closest place for you to go may be to Hammersmith in London. It is a first class medical facility with great resouces. I have no idea whether you are in a position to do that , but I thought I mention it.

regards,

rosy, mum to Max, 5

[Guest guest]

Hi

Thanks very much for the reply. I agree with your assesment of Mito knowledge in South Africa - it doesn't seem very high. There are 2 doctors in Cape Town with some knowledge working out of the Red Cross Childrens Hospital. Unfortunately they are a goverment hospital and don't take private patients and there first opening for an appointment is January. That is obviously way too far in the future.

UCT Health sciences is one of my biggest clients and they are linked to Red Cross so I am going to try and jump the queue somehow.

My current paed is a paed neurologist but has seemed to go cold since the diagnosis...we also worked with a genetisist (the top one in Cape Town or so I was told). Unfortunately I believe they failed me by continually looking at dwarfism as a diagnosis despite the multitude of other symptoms that didn't fit the bill and despite our constant querying regarding the total picture.

We did an amio for achondroplasia, which came out negative (it was sent to a lab in Manchester). We did X-rays and even chatted to a Prof Beighton who has written a book on dwarfism. All our testing was unable to diagnose the type of dwarf as he did not fit any particular type. They adopted a wait and see attitude...not bothering to concern themselves with the possible causes off the hearing, hypotonia, dystonia and eye problems, which apart from the hypotonia and developmental delays which were unrelated to dwarfism.

I'm not sure how they are going to do a muscle biopsy. The blood tests were sent to someone in Paarl who (i'm told) is the only one in S.A. that can do it. We are still awaiting the results.

- S. Africa link

,

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

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