Counting Blessings: Fabry testing/FEDEX etc.

October 19, 2004

Ahhhhhh YES, today is very good indeed. The 13 vials of blood and packet of

info made it to Mount Sinai, FEDEX. YEEEEEAAAAAHHHHHHH!!!! (second time

around, but that's OK, at least it made it and all is well). Will take 3 - 4

weeks again, to get the results back from the repeat alphagalactosidase level.

If my values are still very low, and after they review my info packet, renal

biopsy, dermatologists progress notes on my " little dalmation spots on my

belly/thighs " (angiokeratomas), proteinuria etc, etc. then from there they will

decide if they should procede with two forms of genetic testing. Help me out

here Cy, if you can, one is DNA assay, the other is called " lymphoid cell line " .

What in the heck is that? Those tests supposedly can take months, to find the

mutant gene so now one must be very patient. Anyway, one day at a time.

Hopefully by the time they find it (if they have to proceed) I'll be on my way

to Germany to stay with my daughter and son in law.

((((((SMILE)))))). P.S. She's doing good. 10 weeks now I think. Her next

appointment with OB is Nov. 2nd. Her wedding anniversary. Cool or what? Hope

everyone is having a good start of the week. Take Good Care. Bonnie

October 19, 2004

WOO HOO!!! I was wondering if you had heard back on that yet. I admire you

for putting up with two major draws in such a short period of time...and due

to someone else's mix up. I hope they are able to find what you need and

you are able to move forward on your path. That waiting is worse than

anything.

Hang in there!

Amy G.

Counting Blessings: Fabry testing/FEDEX etc.

>

> Ahhhhhh YES, today is very good indeed. The 13 vials of blood and packet

of info made it to Mount Sinai, FEDEX. YEEEEEAAAAAHHHHHHH!!!! (second

time around, but that's OK, at least it made it and all is well). Will take

3 - 4 weeks again, to get the results back from the repeat

alphagalactosidase level. If my values are still very low, and after they

review my info packet, renal biopsy, dermatologists progress notes on my

" little dalmation spots on my belly/thighs " (angiokeratomas), proteinuria

etc, etc. then from there they will decide if they should procede with two

forms of genetic testing. Help me out here Cy, if you can, one is DNA

assay, the other is called " lymphoid cell line " . What in the heck is that?

Those tests supposedly can take months, to find the mutant gene so now one

must be very patient. Anyway, one day at a time. Hopefully by the time

they find it (if they have to proceed) I'll be on my way to Germany to stay

with my daughter and son in law.

> ((((((SMILE)))))). P.S. She's doing good. 10 weeks now I think. Her

next appointment with OB is Nov. 2nd. Her wedding anniversary. Cool or what?

Hope everyone is having a good start of the week. Take Good Care. Bonnie

>

October 19, 2004

Hi Amy, you're perfectly right. The waiting is harder (almost) than hearing bad

news. But this time for me is different cause it takes so long. Won't be near

so hard at least I don't think it will be. And I've already had the one result

come back extremely low. So I guess you're kinda already prepared for that.

The genetic testing stuff willl take months so no need what so ever to start

worrying about that one for a long time. And I'm hoping I won't even be

thinking of it, especially if I'm in Germany for several weeks with Em and Bry.

(and the Marley Man of course...the 100#, 1 year old DELIGHTFUL chocolate lab.

(DOUBLE HEHEHE) He's the best, (besides my Milo, the border collie). Bonnie

Amy Griswold wrote:WOO HOO!!! I was wondering if you

had heard back on that yet. I admire you