Re: [igan]Bonnie

September 4, 2004

Bonnie:

I hope you are feeling better today.

Thanks for your support. It is greatly appreciated.

Alports is a genetic disorder of Collagen Type IV. This particular

collagen appears in the glomerular basement membrane (GBM), the cochlea

of the ear, and the eye. So the disorder, depending on the severity,

affects renal function, hearing and sight. So far (knocking on wood)

Rob's hearing is perfect and though he is nearsighted, none of the

Alport's manifestations are evident in his eyes. So that is greatly

encouraging!

There are several different classifications. Rob's final pathology report

is still being reviewed (and you can tell me if 8/6 to 9/3 is an unusual

amount of time). We'll find out what classification he is once that final

report is in.

With Alports, usually with transplantation, the transplanted kidney is

not susceptible to problems as far as the Alports wouldn't affect the

transplanted kidney. So that too is good news.

If you want info on ankylosing spondylitis, I can share some info on that

is well...just let me know.

Thanks again! You guys are the best.

, mom to Rob

PS You are a nurse, right? Me too! Did I read somewhere you have your

masters? I am going to a meeting on Monday about starting on my masters.

I don't know if this is a good time to do it, but with this particular

institution you can do the majority of your course work online. So that

piqued my interest. What was your area of specialty for your masters? Did

getting it bring a lot more to your nursing career???

On Wed, 1 Sep 2004 18:31:03 -0700 (PDT) Bonnie Duran

writes:

Hi , I am also so sorry about Rob's diagnosis of Alport's. I do

hope you will stay " on site " here. You give us a lot of support as well.

Maybe you can teach all of us about Alport's and ankylosing spondylitis.

It's always interesting to read your posts. Bonnie

snooksmama@... wrote:Pierre:

Thanks. I had the same thought...and I will stick around. You guys are a

great group!

, mom to Rob

September 11, 2004

Bonnie:

I have been trying to do some reading up on Alports...but the technical

stuff I want to read is only on Pub Med, and they list only abstracts,

and I don't have the $$$ to pay for the articles. Could you ask your neph

practice for a good technical book about Alports, if there even is such a

thing? Or, can you tell me the name of that renal book you were reading,

I never found the post with the name, and I was thinking about looking

for it on Amazon.com. Thanks for your help!

, mom to Rob

On Sat, 11 Sep 2004 12:14:12 -0600 " Amy Griswold "

writes:

Bonnie Congrats on starting up! They are a neat bunch of people. I love

that office, they have played a huge role in keeping me positive. If I

end up on dialysis I will feel very comfortable in their care. It's the

first doctors office where I have felt comfortable with everyone, not

just the doctor. It makes you feel like you are in great hands all the

way around. My appointment is on Thursday the 16th....let ya know how

things look then.

Amy

1st day volunteering at Neph's

Brief note (yeah right) to let you guys know, the first day

volunteering at the neph's office went pretty awesome yesterday. I

" picked " their brains and boy oh boy, I've got tons to learn, but am

certainly on the right track of learning everything. It is so much fun.

The dialysis center is right next to their office, but didn't spend any

time there yet. I worked with the 3 nurse practitioners and met with the

research monitor who comes every three to four months to make sure all

the research study stuff is up to par and every one is on the same wave

length. COOOOLLLLLLLL, COOOOOOLLLLLL studies. I will let you guys know

what they are when I am able, but I think some of it is still " hush,

hush " right now. Pretty much " breakthrough " advances though. It is so

awesome. They're 5 nephs in the office and 3 N.P's. The dialysis center

is managed by DeVita, and they staff their own center, but obviously

kinda work hand in hand with this Neph office. Anyway, one of the nephs

invited

me to an inservice he's giving for the NP's in the office Monday

morning at 7:00 (Thank goodness it's before my " regular " job starts) on

anemia in chronic renal disease and Aranesp/ procrit. Guess I'd better do

some homework....... Anyway, neat neat group, and I'm so glad to have

them welcome me and be so kind to share their info. I may need to " pick

your brains " as I learn this stuff...hope that's O.K. Hope every one is

hanging in there. Well, back to work.........Bonnie

September 12, 2004

Bonnie:

Thanks so much!

, mom to Rob

On Sun, 12 Sep 2004 13:18:25 -0700 (PDT) Bonnie Duran

writes:

Hi , I just finished faxing the information you requested. The full

title of the book is Primer on Kidney Diseases, 3rd edition. 2001.

Editor; Greenberg, Arthur, Associate editors: cheung, Alfred., Coffman,

., Falk, ., and Jennette, J. . National Kidney

Foundation Academic Press. ISBN 0-12-299100-1. Enjoy!!!!! Bonnie

November 9, 2004

Bonnie:

First of all, I am so thrilled to hear that your alphag. levels were

normal~I do hope that this is a good indication that you are negative for

Fabry's! I will continue to keep you in my prayers.

That is really interesting about the gene..I'll have to look that up. I

do know that Alport's affects Type 4 collagen chains, and this is what

Dr. Kashtan is looking for in Rob's renal biopsy tissue samples. I am

going to email his neph tonight and see if there is any word on any

results..I know these things always seem to take longer than they say!!

How is your swelling? I cannot imagine the hours you work and how you do

it. You are an amazing woman. Any time off coming up??

, mom to Rob, 15, Alport syndrome and juvenile ankylosing

spondylitis

On Sun, 7 Nov 2004 12:50:29 -0800 (PST) Bonnie Duran

writes:

Just a quick note here, I thought you may be interested in this.

Remember when I mentioned that Alport's sounds a lot like Fabry's? Well

I am certainly NOT a genetic person AT ALL, but it looks like the gene

that is affected is the same gene as Fabry's is. Weird or what? It's

the Xq22. Of course I have no idea what that really means, other than

coincidence. I also don't know anything about stem cell research, but

I'm wondering if some of the hereditarty glomerulonephopathies such as

Alport's etc. would be studied in stem cell research. I must keep

reading....... unfortunately not today though, I'm trying to get some

stuff done at work, but I just had to share that with you. No wonder

they sounded like they had a lot of similarities. Hope all is well with

you and Rob. Take good care. Bonnie

November 9, 2004

Hey ,

Thanks for the congrats on the alphag. levels. I talked with Catie (Research

Coordinator at Mayo) and told her that Dr. Desnick (Mount Sinai) wanted Dr.

Fervenza (Mayo) to give him a call regarding symptoms, etc before they decided

on continuing on with the genetic testing since the repeat alphag was normal.

Dr. Desnick wanted me to see a Fabry specialist in Denver, but I mentioned to

them yesterday I already have a great neph at Mayo, wouldn't that do just

fine... I knew they did research at Mayo on Fabry's but GUESS WHAT, the doc

that's doing the Fabry research IS DR. FERVENZA. I never knew that until

today. So no wonder he told me that my results were " highly suspicious " for

Fabry's and kept " bugging " me about why I hadn't followed up with the testing at

Mount Sinai yet. (that was when my step mom had a nephrectomy and I didn't have

the heart to inquire about the family history of that side of the family until

things settled down a bit.) Dr. Fervenza has two research

studies going for Fabry's at Mayo, and Catie is NOT involved with either one of

them, so that is why she was unfamiliar with the whole scenario. So I just got

through faxing all the research packet that originally went to Mount Sinai,

(pedigree, echo and EKG and 21 page packet) to Mayo. Now just need to let the

docs sort it out.

Hope you hear something soon about Rob's biopsies. It's kinda hard waiting

isn't it? Especially when you feel like your so close to knowing the end

result, but just gotta wait for more info. I'm glad Rob seems to have a lot of

patience. I think that helps bunches. and of course the fact that he has been

doing well and labs are STABLE, correct? My new favorite word, ~STABLE~

The swelling is about the same. The support hose feels great. Maybe not quite

enough compression, cause there's still swelling but I think I'm getting used to

it now. (Except for my " fat " gut), but it's still better than a lousy

creatinine. I'll take the swelling better than a lousy creatinine thank you.

HEHEHE I'll be off for Thanksgiving through the following Monday, but leave for

Mayo on Thanksgiving Day and will return back to Colorado on Saturday, then PCP

and local Neph appoints Monday. I try to time them all together, it's alot

easier for me that way, cause I work 40+ miles from home where they are located.

Then I don't have to take off work to go back and forth etc.

Hope all is well with you guys, Take good care!!!

But got to run, back to work.... Bonnie

snooksmama@... wrote: