Dear Sir: I came across your blog after reading Stanley Bing’s recent article in Fortune Magazine. I will try to be brief.
I have a 4 year old son who was diagnosed 1.5 years ago with a form of Leigh’s disease; one of the most devastating forms of mitochondrial disease. While he is receiving care from some of the most experienced doctors in the area of mito disease, as you are probably aware the general approach is to prescribe a vitamin regimen and “keep him comfortable.” That is to say, there is no cure or treatment for the disease, and the few centers that are researching the disease are not close to finding one. Since the disease is degenerative, this is a hard pill to swallow.
I am writing to you in hopes that you can recommend doctors or research centers that are applying experimental techniques to treat the disease through systemic regmed, stem cell or other methods. If I wait for traditional medicine to find a treatment (and especially the FDA), I fear it may be too late for my son.
Any help or advice would be appreciated.
Best regards –
Joe Mileti [miletijoe][at][hotmail.com]
Dear Mr. Mileti,
thanks for your honest mail. The kind of organellar, mitochondrial therapy that would be needed in order to replace the damaged mitochondria or mitochondrial DNA in the brain stem in case of Leigh’s disease is not existing even experimentally at this moment as far as I know. (Update: I hope I am wrong.)
As I am not a doctor, just a researcher, I am not allowed to suggest any type of therapy or treatment. All I can do at this point is to post your email on my blog with your contact so that people who are more competent than me, can read it.
Just like in this case:
So may I publish your whole mail with your contact info?
Yes, you can post, although my expectations are low in terms of anything new in this area. Thanks for your help and good luck with your research.
Have you checked this: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256000
Leigh syndrome could be due to mtDNA or nuclear DNA (autosome or X-linked). What was the genetical diagnosis? It doesn’t help concerning the cure if we know this, though.
My son has a mutation in his mtDNA ATPase 6 gene at position C8578T. The doctors are quite certain this is the cause of his disease, although this mutation is a novel one, so there is no precedent.
PS: thanks for Gábor Zsurka for the link and advices.