Re: Stem cell research --> Pamela Graham

[Guest guest]

thanks so much, pam. i use a walker in the house and " just making it " and

a w/c mostly out of the house. my speach is very bad, the muscles in my

eyes just don't seem to work and i am legally blind, i am deaf in " the

normal range " (all thanks to SCA 6). baylor in houston is where my nuerogist,

dr. ashsawa is. i also flew up to MN to meet with dr.martinenez in

september of last year and met up with karen perlel and her girls... (she

also had SCA 6). and was part of dr. martiniz's study on eyes.

thanks for the leads, pam.

[Guest guest]

foorgive me--i meant dr. gomes at u of Min. very charming, hummanistic and

approachable. <<< pamela graham.

[Guest guest]

foorgive me--i meant dr. gomes at u of Min. very charming, hummanistic and

approachable. <<< pamela graham.

[Guest guest]

Hi Pamela,

Gosh I didn't realize you were progressing at this rate. When I met you

at the National Ataxia Foundation annual meeting in andria, VA in

1998 you seemed to be doing very well. Is your case being followed by

an ataxia researcher right now? The literature says that SCA6 is not so

progressive as many of the other forms. See:

http://www.bcm.tmc.edu/neurol/faculty/hyz.html Obviously they are wrong

in your case! I don't know how you can get into a stem cell research

study. Try writing to Dr. Mark Hallett, Clinical Director of the

National Institute of Neurological Disorders and Stroke at the National

Institute of Health. Let him know you were diagnosed SCA6 but that your

case does not follow the expected pattern of progression. He is very up

to date on all forms of ataxia as he teaches other neurologists about

it. Perhaps he can suggest something to you.

http://www.ninds.nih.gov/about_ninds/labs/72.htm

Contact Information

Human Motor Control Section Medical Neurology Branch, NINDS NIH,

Building 10, Room 5N226 10 Center Drive, MSC 1428 Bethesda MD 20892-1428

301-496 1561 (office)

301-496 1561 (laboratory)

301-402 1007 (fax)

Email: hallettm@...

---

Here are a couple other ideas of ataxia researchers to contact:

Dr. Gomez at the University of Minnesota. SCA6 is his

specialty.

http://www.neurosci.umn.edu/faculty/gomez.htm

email: gomez001@...

Dr. Huda Zoghbi at Baylor College in Houston

She and her colleagues discovered the SCA6 gene.

http://www.bcm.tmc.edu/neurol/struct/ataxia/ataxia4.html

http://www.bcm.tmc.edu/neurol/faculty/hyz.html

email:: hzoghbi@...

Good luck. Let me know if you hear back from anyone.

Love,

Pam

PamelaAnn8@... wrote:

>

> again does anyone out there know where they are having studies and need

> volunteers (ie what university)? my case is VERY FAST in overcoming me

> and i will be dead if i have to wait 6 of7 years... what a waste that

> durijng reagon/bush no testing was done! i have spinal-cerebeller atataxa

> (hereditary ataxia) NOT shy-dragor but close. my cerebellum which controls

> walking, talking, swollowing, eyes, ALL MUSCELS. I am legally blind and deaf

> in the " normal range " of hearing because of this. anyone that can shed

> some hope on this, please write. quiety desperate. hugs, pamla.

>

>

[Guest guest]

Hi again Pam.

Do you know Sue Bronson? Her father has SCA6. She is a co-leader of

the NAF Support group in Pennsylvania. Drop her a line at

bronsonl@...

She might have some more leads for you.

Hugs,

Pam

PamelaAnn8@... wrote:

>

> foorgive me--i meant dr. gomes at u of Min. very charming, hummanistic and

> approachable. <<< pamela graham.

>

>

[Guest guest]

Hi again Pam.

Do you know Sue Bronson? Her father has SCA6. She is a co-leader of

the NAF Support group in Pennsylvania. Drop her a line at

bronsonl@...

She might have some more leads for you.

Hugs,

Pam

PamelaAnn8@... wrote:

>

> foorgive me--i meant dr. gomes at u of Min. very charming, hummanistic and

> approachable. <<< pamela graham.

>

>

[Guest guest]

dear Becky, first OPCA is a re-ally old-fashioned term for SCA. do you have

a good nuero and is he familiar with hereditary atax? if not, FIND ONE!

usually the " experts " are located at universities like Dr. Gomes at

University of Minnasda or Dr. Ashwaza at the Rice University clinic

(Houaton). There a lot of good nueros out there but you need one that

specializes in ataxia and probably does research on it as well. call the

national ataxia foundation (do you belong) if not, contact me and i;ll give

you their number!

as knowing which " type " you have the most definite way is through blood

tests. unfprtunatly, they have to do them seperetly--one test for

Fredericks, another test for ataxia type II, another one for type 6 (my

kind). these tests are very expensie and done at only a few places in

the country.l a good nuero can make an educated guess by your-+ age of

onset, fami;y history, etc. thus you won't need ALL the tests, it takes

about 4-6 weeks to hear back from the lab. based on WHAT KIND YOU HAVE

the doctors know better what to expect, what to tell you. some people don't

know what " kind " they have (we call this " wtha " or what-the-hell-ataxia.

but they are making advances VERY quickly now. when i was diagnosed in

1997 there was no test for type 6 and they have made a few other

discoveries of other " types " of ataxia. and the future with the genom

project looks very bright for us!

if i can help in any way let me know. and if you just want to talk i am

" pamelaAnn8@... " by the way, i am now in OKC where are you.<<< hugs,

pamela

*

[Guest guest]

<<

as knowing which " type " you have the most definite way is through blood

tests. unfprtunatly, they have to do them seperetly--one test for

Fredericks, another test for ataxia type II, another one for type 6 (my

kind). these tests are very expensie and done at only a few places in

the country.l a good nuero can make an educated guess by your-+ age of

onset, fami;y history, etc. thus you won't need ALL the tests, it takes

about 4-6 weeks to hear back from the lab. based on WHAT KIND YOU HAVE

the doctors know better what to expect, what to tell you. some people don't

know what " kind " they have (we call this " wtha " or what-the-hell-ataxia.

but they are making advances VERY quickly now. when i was diagnosed in

1997 there was no test for type 6 and they have made a few other

discoveries of other " types " of ataxia. and the future with the genom

project looks very bright for us!

if i can help in any way let me know. and if you just want to talk i am

" pamelaAnn8@... " by the way, i am now in OKC where are you.<<< hugs,

pamela

*

[Guest guest]

Greetings Pamela!

Though I agree with your suggestions about testing, I would comment about:

> ... first OPCA is a really old-fashioned term for SCA.

Yes, and no. If there's any indication that disorder is hereditary, the SCA

is used to denote it, and there is often an attempt to classify it (as you

note). However, if (as is my case) the disorder is NOT hereditary, then the

term 'Sporadic OPCA' is used. This denotes (a) that it is not hereditary,

and ( the parts of the brain not working well or atrophied.

IF (and that's a big " if " ) the person with Sporadic OPCA starts to show some

of the other symptoms of MSA, then doctors will start to talk about

'Possible MSA'. If the symptoms become clearer (such as a person develops

clear parkinsonian symptoms or autonomic nervous system problems), then the

doctor would use the term 'Probable MSA'. The only definite diagnosis at

the moment (Definite MSA) can only be performed post mortem. I'm happy with

'Possible' at this point. Not sure I want 'Probable'. And I definitely do

not want 'Definite'. !

Regards,

=jbf=

B. Fisher

[Guest guest]

Becky,

Ataxia is any form of movement disorder. As Pam said MSA-C (or MSA-P) is a

movement disorder and sporatic OPCA is actually now called MSA-C.

If they find a cure for any Ataxia, we will let you know and you can get tested

for it. Until then, testing for specific ataxias is expensive and usually are

only done if you want to pay the cost, many insurances with not pay for the

tests

unless their is a chance you have a test for a curable disease.

Take care, Bill and Charlotte

THOMAS1435@... wrote:

>

>

> <<

> as knowing which " type " you have the most definite way is through blood

> tests. unfprtunatly, they have to do them seperetly--one test for

> Fredericks, another test for ataxia type II, another one for type 6 (my

> kind). these tests are very expensie and done at only a few places in

> the country.l a good nuero can make an educated guess by your-+ age of

> onset, fami;y history, etc. thus you won't need ALL the tests, it takes

> about 4-6 weeks to hear back from the lab. based on WHAT KIND YOU HAVE

> the doctors know better what to expect, what to tell you. some people don't

> know what " kind " they have (we call this " wtha " or what-the-hell-ataxia.

> but they are making advances VERY quickly now. when i was diagnosed in

> 1997 there was no test for type 6 and they have made a few other

> discoveries of other " types " of ataxia. and the future with the genom

> project looks very bright for us!

> if i can help in any way let me know. and if you just want to talk i am

> " pamelaAnn8@... " by the way, i am now in OKC where are you.<<< hugs,

> pamela

> *

>

>