update from erin been to geneticist again

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Hi All

This is to update you all on what happened this morning at the geneticists apmt.

It actually was a bit strange because the hospital had apparently cancelled my

apmt moved it to a fortnights time but they didn't actually inform us of this so

we turned up apmt slip in hand and they showed it to the geneticist who saw us

anyway. We had to sit there for 1.5 hrs til she had finished with everyone else

but better than waiting another 2 weeks ive already waited 2 months for this.

None of the tests that were back came back positive she was testing for other

diseases other than mito that cause neurodegeneration.

She has decided to do another head MRI which is in April and i asked about

swallowing/choking/nausea issues and she is sending me to a speech pathologist

and I asked her how i can get the care i need at home and she is sending me for

a neuropsychological test she called it a super IQ test she believes my thinking

will be slow and i agree because it IS slow. I keep telling them about memory

problems and all that so this is all good because at LEAST she is doing tests

and trying to find out what is wrong. She definately has not ruled out mito

disease as a possibility. She believes that if this test is positive then i may

have a diagnosis that the other service provider in south australia accepts

despite not knowing about the rest and i might be able to switch to them due to

that and of course they would not be able to ignore the othe

rphysical/neurological problems i have so this may be a way in!!!!! pray that it

is!!!!

I asked her since the tests are negative will she still do a muscle biopsy and

she told me something incredibly interesting. Apparently there is a brand new

test which is just a blood test something about plasma which tests for mito

disease. She has done seminars/lectures at s Hopkins (excuse the spelling)

in the US and has been involved with another dr there who i have forgotten the

name of (i am in adelaide, australia) so she is pretty top dr for mito

disease!!!! She really knows all about it. Theres only one problem she says the

test is not available in adelaide in her lab yet in fact im not sure that its

even available in australia at present and thus i have to wait 6 months just to

have the test then however long it takes to get the results back!!! But she says

this test is better than a biopsy and obviously a LOT less invasive cause its a

simple blood test!!!

Does anyone know of this test has anyone heard of it? Also where is s

Hopkins? Im assuming its a hospital or a University i am not from US its one ive

heard of but cant think where it is. I am sure it was in a book i was reading.

How weird is that (fiction book)?

So i dont really know anything else at this stage but i do feel like things are

definately progressing she said it might take a couple of years for her to

figure everything out i hope not!!! But then she told me that mito was complex

ya think?

Oh well at least she is listening and she was rather confused because the first

thing i told her was how i had deteriorated and right after she said that she

received a letter from my neurologist (who believes mito is neg because mtDNA,

lactate, CK and EMG were neg which is not the case.) I know that and the

geneticist knows it but the neuro hasn't got a clue!!!!! I hope i dont have to

go back to her suppose i will but i dont particulalrly want to. The geneticist

knows a lot more than she does.

I only know when the MRI is i dont know about anything else.

Hope you are all OK

from erin