Re: Possible symptoms of Fabry's

[Guest guest]

I just ate my fortune cookie from lunch, after I wrote the note below. My

fortune read " A cautious person leaves no stones unattended " . How fitting for

the occasion. Hehehe

Bonnie Duran wrote:Hello to those interested in Fabry disease

etc, (esp and Cy). Dana, the genetic counselor from Mount Sinai called

me today and faxed me 20 pages of consent etc regarding testing. They collect 3

samples of blood for repeat enzyme assay, and also draw for DNA and lymphoid

cell line. They repeat the enzyme assay first, (this is the one that I was at

0.8 and the normal for that lab was 0.6 - 3.6) Then the genetic counselors

review all the information regarding symptoms, renal biopsy report, pedigree (3

generation family tree that I must complete) and the report of the initial

enzyme assay and the repeat levels. In the mean time I have to have a repeat

slit lamp eye exam, only to be performed by an opthamologist familiar with

corneal dystrophy markers for Fabry's in women. The initial enzyme assay takes

3 - 4 weeks but " can be inconclusive in women " . The DNA results may take

" several months " . Dana mentioned the testing is VERY

expensive, so they try to limit the testing

only to those who show significant markers, or family history of Fabry's.

However my cost is only related to the drawing of the blood and the overnight

shipping. Also just for the fun of it (?!) called an old aquaintance who is a

dermatologist, to see if she will take a look at my belly/thighs and confirm the

multiple little red spots as angiokeratomas, and see if she's ever taken care of

anyone with Fabry's. Well all in all, an interesting day, and I feel better

now, knowing that I have at least made an effort to check this all out,

especially regarding the hereditary component of this, in case my children ever

have kids. (X linked recessive trait which means can inherit the disease from a

carrier mom). Thanks again for your never ending support. Sorry this is a

little " off group " Pierre, but none the less, interesting regarding end stage

kidney disease. Bonnie

[Guest guest]

Hi Bonnie,

I am glad they called you back and you can get the ball rolling. It sounds

like it will still be some time before you get a conclusive diagnosis due to

the complex testing. Did your dermatologist friend have any experience with

Fabry's?

[Guest guest]

And so.... are you going to sign the consent?

Thanks for the low-down on Fabry disease. Several months wait for the DNA

results sounds downright awful. I'm so glad you're at Mt. Sinai. This is

where high-powered institutions are at their best - providing access to

infrequently used diagnostic tools. Let us know what your dematologist

friend says...

Sounds like screening for Fabry's in women is as frustrating as lupus in men

only more so. There were a handful of guys on a 'net site for membranous GN

who were initially tested for lupus as part of the routine initial renal

screening. Subsequent testing using criteria other than the usual

antinuclear antobody tests came back positive.

You done good trying to get to the bottom of this Bonnie!

Cy

Possible symptoms of Fabry's

> Hello to those interested in Fabry disease etc, (esp and Cy).

Dana, the genetic counselor from Mount Sinai called me today and faxed me 20

pages of consent etc regarding testing. They collect 3 samples of blood for

repeat enzyme assay, and also draw for DNA and lymphoid cell line. They

repeat the enzyme assay first, (this is the one that I was at 0.8 and the

normal for that lab was 0.6 - 3.6) Then the genetic counselors review all

the information regarding symptoms, renal biopsy report, pedigree (3

generation family tree that I must complete) and the report of the initial

enzyme assay and the repeat levels. In the mean time I have to have a

repeat slit lamp eye exam, only to be performed by an opthamologist familiar

with corneal dystrophy markers for Fabry's in women. The initial enzyme

assay takes 3 - 4 weeks but " can be inconclusive in women " . The DNA results

may take " several months " . Dana mentioned the testing is VERY expensive, so

they try to limit the testing

> only to those who show significant markers, or family history of Fabry's.

However my cost is only related to the drawing of the blood and the

overnight shipping. Also just for the fun of it (?!) called an old

aquaintance who is a dermatologist, to see if she will take a look at my

belly/thighs and confirm the multiple little red spots as angiokeratomas,

and see if she's ever taken care of anyone with Fabry's. Well all in all,

an interesting day, and I feel better now, knowing that I have at least made

an effort to check this all out, especially regarding the hereditary

component of this, in case my children ever have kids. (X linked recessive

trait which means can inherit the disease from a carrier mom). Thanks

again for your never ending support. Sorry this is a little " off group "

Pierre, but none the less, interesting regarding end stage kidney disease.

Bonnie

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>

>

>

[Guest guest]

Hi , as a matter of fact, she called me today and low and behold, she does

sound quite familiar with it. I finally talked to someone who has a clue. She

mentioned right off the bat that the angiokeratomas were not a definitive

diagnosis for Fabry's and asked what other tests have been done. I mentioned my

alphagalactosidase level and she responded, " well that's probably a definitive

diagnosis right there! " She is an absoulute " sweetheart " of a person. Usually

takes 6 months to get an appointment with her (NO JOKE) and she's working me in

THIS TUESDAY. Can you just imagine. Unbelievable. I've always known I have a

truely kind angel who looks over me, (along with you and others on this site).

This eval. for angiokeratomas will consitute part of the " presumptive signs "

Mount Sinai is looking for, so is good to have it documented by a dermatologist,

and I can fax this in with the renal biopsy etc. Thanks again for keeping in

touch. How are you holding up? Don't you get

exhaused by the end of the week? I know how easily tired I get, then I look at

your GFR and wonder how you keep up all the time... but alas, I am very glad

you keep up with this site. Hope you and your girls are doing well. P.S. I got

a call from my daughter at 4:00 am today, and she's on her way to Spain today

with her hubbie . Hip hip hooray, the " newly weds " are finally having fun

after a long 15 1/2 months away from each other. (He was in Baghdad but now

Home in Germany). " Talk to you later " thanks again, Bonnie

W4JC@... wrote:Hi Bonnie,

I am glad they called you back and you can get the ball rolling. It sounds

like it will still be some time before you get a conclusive diagnosis due to

the complex testing. Did your dermatologist friend have any experience with

Fabry's?

[Guest guest]

Hi Cy, yup, I'm gonna sign the consent. My Ig A is quite stable so far, so I'm

not so concerned about waiting a couple of months for the Fabry testing. I'm

just really glad I spoke with some really cool and knowledgeable people involved

with Fabry's who ALL referred me to Dana at Mount Sinai. I mentioned to Dana

(genetic counselor) that I'm supposed to be randomized to CellCept vs. placebo

at the end of the month. She didn't seem to think there would be any problems

with that, thank goodness. Hopefully, I'll be negative on work up, but just

will give me peace of mind, especially with my daughter preparing for motherhood

soon.

Interesting note about the men diagnosed with Lupus. Was the testing the full

ANA panel? Interesting to note, how many of us here on site have tested

positive to either Lupus or hepatitis B. Someday hopefully someone will

understand all the connections between this autoimmune stuff. But alas, I'm

really glad I'm " just " a nurse and not a guru in immunology or genetics. By the

way Cy, what do you do for a living? I'm curious, cause you said you pulled out

some of your old biochem texts to read up on Fabry's/alphagalactosidase levels.

Thank you again for your support in my workup. It has been a difficult decision

to pursue. The testing by the way, does not ask for a " physician order " , just

the name of a physician to send the report to, so hopefully I won't be stepping

on toes, cause I'll just put my PCP's name in there. He knows me well as his

patient and professionally and I don't think he will mind that he didn't " order "

it. Bonnie

Cy Webb wrote:

And so.... are you going to sign the consent?

Thanks for the low-down on Fabry disease. Several months wait for the DNA

results sounds downright awful. I'm so glad you're at Mt. Sinai. This is

where high-powered institutions are at their best - providing access to

infrequently used diagnostic tools. Let us know what your dematologist

friend says...

Sounds like screening for Fabry's in women is as frustrating as lupus in men

only more so. There were a handful of guys on a 'net site for membranous GN

who were initially tested for lupus as part of the routine initial renal

screening. Subsequent testing using criteria other than the usual

antinuclear antobody tests came back positive.

You done good trying to get to the bottom of this Bonnie!

Cy

Possible symptoms of Fabry's

> Hello to those interested in Fabry disease etc, (esp and Cy).

Dana, the genetic counselor from Mount Sinai called me today and faxed me 20

pages of consent etc regarding testing. They collect 3 samples of blood for

repeat enzyme assay, and also draw for DNA and lymphoid cell line. They

repeat the enzyme assay first, (this is the one that I was at 0.8 and the

normal for that lab was 0.6 - 3.6) Then the genetic counselors review all

the information regarding symptoms, renal biopsy report, pedigree (3

generation family tree that I must complete) and the report of the initial

enzyme assay and the repeat levels. In the mean time I have to have a

repeat slit lamp eye exam, only to be performed by an opthamologist familiar

with corneal dystrophy markers for Fabry's in women. The initial enzyme

assay takes 3 - 4 weeks but " can be inconclusive in women " . The DNA results

may take " several months " . Dana mentioned the testing is VERY expensive, so

they try to limit the testing

> only to those who show significant markers, or family history of Fabry's.

However my cost is only related to the drawing of the blood and the

overnight shipping. Also just for the fun of it (?!) called an old

aquaintance who is a dermatologist, to see if she will take a look at my

belly/thighs and confirm the multiple little red spots as angiokeratomas,

and see if she's ever taken care of anyone with Fabry's. Well all in all,

an interesting day, and I feel better now, knowing that I have at least made

an effort to check this all out, especially regarding the hereditary

component of this, in case my children ever have kids. (X linked recessive

trait which means can inherit the disease from a carrier mom). Thanks

again for your never ending support. Sorry this is a little " off group "

Pierre, but none the less, interesting regarding end stage kidney disease.

Bonnie

>

>

>

>

>

>

[Guest guest]

Hi Bonnie,

Congrats re your daughter! This sounds like an exciting time... How far

along is she? Here's hoping that you're negative. A little peace of mind

goes a long way. Given the renal aspects of Fabry's, I think you are making

a smart decision. Must have felt good getting that same referral over and

over again!

My background is in biochem. Did a fair amount of medical research (mostly

re cancer drugs) both before and after dropping out of grad school. Ended

up in to law school. Passed the patent bar. Did intellectual property for

six years. Presently working on prop 71, which (if is passes in November)

would put 3 billion dollars over the next ten years into all forms of stem

cell research in California. I anticipate being back in intellectual

property after the election. The upshot of this recitation is that I can

bore you to death with infinite detail in a few limited areas and remain

clueless about most things. Immunology is not my strong suit unfortunately.

Took it in grad school too long ago for it to be meaningful. Everytime I

look at pathways for the complement cascade, I feel like I'm coming in on

the ground floor.

Re lupus testing in men: I assume it was the full ANA panel, but my

memory is fuzzy.

Cy

Possible symptoms of Fabry's

>

>

> > Hello to those interested in Fabry disease etc, (esp and Cy).

> Dana, the genetic counselor from Mount Sinai called me today and faxed me

20

> pages of consent etc regarding testing. They collect 3 samples of blood

for

> repeat enzyme assay, and also draw for DNA and lymphoid cell line. They

> repeat the enzyme assay first, (this is the one that I was at 0.8 and the

> normal for that lab was 0.6 - 3.6) Then the genetic counselors review all

> the information regarding symptoms, renal biopsy report, pedigree (3

> generation family tree that I must complete) and the report of the initial

> enzyme assay and the repeat levels. In the mean time I have to have a

> repeat slit lamp eye exam, only to be performed by an opthamologist

familiar

> with corneal dystrophy markers for Fabry's in women. The initial enzyme

> assay takes 3 - 4 weeks but " can be inconclusive in women " . The DNA

results

> may take " several months " . Dana mentioned the testing is VERY expensive,

so

> they try to limit the testing

> > only to those who show significant markers, or family history of

Fabry's.

> However my cost is only related to the drawing of the blood and the

> overnight shipping. Also just for the fun of it (?!) called an old

> aquaintance who is a dermatologist, to see if she will take a look at my

> belly/thighs and confirm the multiple little red spots as angiokeratomas,

> and see if she's ever taken care of anyone with Fabry's. Well all in all,

> an interesting day, and I feel better now, knowing that I have at least

made

> an effort to check this all out, especially regarding the hereditary

> component of this, in case my children ever have kids. (X linked recessive

> trait which means can inherit the disease from a carrier mom). Thanks

> again for your never ending support. Sorry this is a little " off group "

> Pierre, but none the less, interesting regarding end stage kidney disease.

> Bonnie

> >

> >

> >

> >

> >

> >

[Guest guest]

Hi Bonnie,

Wow! That is great that she is squeezing you in on Tuesday. I think you

will have more peace of mind once you know for certain what you are dealing

with.

I always think half the anxiety comes from not knowing. I feel even better

that she knows about Fabry's disease. Please let us know what she says after

your appt on Tuesday.

Thanks for asking about me. Yes, I do get VERY tired by the end of the week.

I usually pretty much am useless Friday nights and take most Saturday's to

just rest and recover from the week. It is just about all I can do to make it

to church on Sunday mornings, and even that has become harder in recent months.

That is when I KNOW I am exhausted :-)

I am very happy that your daughter and son-in-law are getting time away

together, especially after his long term in Baghdad. I am sure he is counting

his

blessings after seeing so many fellow soldiers lose their lives. Please let

both of them know how much we appreciate the sacrifices they both have made for

to serve. I hope they have a wonderful time together.

In a message dated 8/6/2004 6:29:09 PM Pacific Daylight Time,

bd4679@... writes:

> Usually takes 6 months to get an appointment with her (NO JOKE) and she's

> working me in THIS TUESDAY. Can you just imagine. Unbelievable. I've always

> known I have a truely kind angel who looks over me, (along with you and

> others on this site). This eval. for angiokeratomas will consitute part of

the

> " presumptive signs " Mount Sinai is looking for, so is good to have it

> documented by a dermatologist, and I can fax this in with the renal biopsy

etc.

> Thanks again for keeping in touch. How are you holding up? Don't you get

> exhaused by the end of the week? I know how easily tired I get, then I look

> at your GFR and wonder how you keep up all the time... but alas, I am very

> glad you keep up with this site. Hope you and your girls are doing well.

> P.S. I got a call from my daughter at 4:00 am today, and she's on her way to

> Spain today with her hubbie . Hip hip hooray, the " newly weds " are

> finally having fun after a long 15 1/2 months away from each other. (He was

in

> Baghdad but now Home in Germany). " Talk to you later " thanks again, Bonnie

>

[Guest guest]

Bonnie,

Early on in my IgAN, probably 15+ years ago I had a work up to rule out

Lupus, but my ANA panel came back negative thank goodness!

In a message dated 8/6/2004 7:44:39 PM Pacific Daylight Time,

bd4679@... writes:

> Was the testing the full ANA panel? Interesting to note, how many of us

> here on site have tested positive to either Lupus or hepatitis B.