Re: Rob's renal biopsy results/long

[Guest guest]

Hi ,

I am definitely keeping Rob in my thoughts and prayers (and the rest of you

too!). He sounds like a remarkably strong person.

Sara (27, poly)

>Rob had his followup today to receive the renal biopsy results.

>The nephrologist thinks Rob has Alports syndrome. If you look it up on

>the Internet it can be quite frightening. Some sites I read said it

>always leads to renal failure in males.

>Today the nephrologist was trying to be as reassuring and upbeat as

>possible. I was having a hard time deciding whether he was just trying to

>give us hope...I don't know. Bottom line: Rob's BUN and creatinine are

>NORMAL. That is awesome news. The bad news, there is irregularity of his

>glomerular basement membrane. Instead of being smooth, there are

>lamellations or cracks in it. This is indicative of Alports. Today, his

>urine had gross hematuria/visibly bloody. 2+ blood in his urine, protein

>and casts. The protein is the bad part. The protein is what causes the

>kidney damage. So we are going to treat that with Cozaar. It will lower

>the protein, the blood pressure (Robs is borderline high and that is a

>sign of kidney disease) and it can actually REBUILD the damaged areas of

>kidney! So this is wonderful news. Years ago they had nothing to treat

>it. Alports is incurable but if you can control the protein spillage you

>can control the disease.

>The only way to really diagnose this is with genetic testing that costs

>$3000-4000 dollars and of course insurance wont' pay for it because it is

>not always reliable. So we are going on the biopsy results that he does

>have it.

>He said that there are many different variations of Alports and some are

>severe, some are not. Some people lose their hearing and sight. They will

>keep a watch on that. There is some genetic research and they are hoping

>someday for gene therapy. The thing is, it is relatively rare, affects

>only 2 people in 20,000. Some can start out mild like Robs and stay that

>way for years, then go to renal failure. Some are very aggressive right

>away. So he will have to be very carefully watched. Labs to be repeated

>in 2 weeks and he wants to see Rob in 2 months, that will be the same day

>we see rheumatology.

>Rob although he was in the room didn't really get all that we were

>talking about. Dr. D. was very careful around Rob about the wording he

>used. The words end stage renal disease, dialysis etc were never

>mentioned. Rob as always was still the happy go lucky guy and he had very

>few questions. I guess little by little he will come to know what all

>this means. I am just worried about his eyesight and hearing. Dr. D

>didn't mention it, and it was impossible to ask with Rob being in the

>room, but I think I am going to get him a hearing test just as a baseline

>so we will know if there are changes. I am going to get the pediatrician

>to order it.

>Dr. D treats many Alports kids apparently so we are in the best place. He

>was upbeat and reassuring. This is just very hard to hear and to take.

>Thanks you guys for all your support and prayers. Please continue to pray

>for Rob.

> and Rob 15 Spondy

[Guest guest]

,

Prayers are with yall. is into the genetic testing. I am not sure

what type insurance you have but 's was covered. We did the V- Factor

testing first and will go from there. I do know about the HBP salt isnt good .

My

son had HBP at the age of 16 and he had to be monitored for 1 year. Change in

diet got his undercontrol for him. (So far) What are the plans now for Rob?

How are you doing?

Robbin

[Guest guest]

-

I'm so sorry to hear about this awful new challenge Rob has to face. My

prayers are with you.

Diane (, 5, pauci)

[Guest guest]

- sending out prayers for you and Rob. Glad you got the results

and the med seems promising. I am sorry Rob has this new disease going

on. Wish I could be of more help, as you know how I feel about and

Rob being so similar, just know that I am thinking of you and I am

praying for the best outcome for Rob. Know that all of us are here

whenever you need to vent or whatever. Michele ( 17, pauci &

spondy)

Rob's renal biopsy results/long

Rob had his followup today to receive the renal biopsy results. The

nephrologist thinks Rob has Alports syndrome. If you look it up on the

Internet it can be quite frightening. Some sites I read said it always

leads to renal failure in males. Today the nephrologist was trying to be

as reassuring and upbeat as possible. I was having a hard time deciding

whether he was just trying to give us hope...I don't know. Bottom line:

Rob's BUN and creatinine are NORMAL. That is awesome news. The bad news,

there is irregularity of his glomerular basement membrane. Instead of

being smooth, there are lamellations or cracks in it. This is indicative

of Alports. Today, his urine had gross hematuria/visibly bloody. 2+

blood in his urine, protein and casts. The protein is the bad part. The

protein is what causes the kidney damage. So we are going to treat that

with Cozaar. It will lower the protein, the blood pressure (Robs is

borderline high and that is a sign of kidney disease) and it can

actually REBUILD the damaged areas of kidney! So this is wonderful news.

Years ago they had nothing to treat it. Alports is incurable but if you

can control the protein spillage you can control the disease. The only

way to really diagnose this is with genetic testing that costs

$3000-4000 dollars and of course insurance wont' pay for it because it

is not always reliable. So we are going on the biopsy results that he

does have it. He said that there are many different variations of

Alports and some are severe, some are not. Some people lose their

hearing and sight. They will keep a watch on that. There is some genetic

research and they are hoping someday for gene therapy. The thing is, it

is relatively rare, affects only 2 people in 20,000. Some can start out

mild like Robs and stay that way for years, then go to renal failure.

Some are very aggressive right away. So he will have to be very

carefully watched. Labs to be repeated in 2 weeks and he wants to see

Rob in 2 months, that will be the same day we see rheumatology. Rob

although he was in the room didn't really get all that we were talking

about. Dr. D. was very careful around Rob about the wording he used. The

words end stage renal disease, dialysis etc were never mentioned. Rob as

always was still the happy go lucky guy and he had very few questions. I

guess little by little he will come to know what all this means. I am

just worried about his eyesight and hearing. Dr. D didn't mention it,

and it was impossible to ask with Rob being in the room, but I think I

am going to get him a hearing test just as a baseline so we will know if

there are changes. I am going to get the pediatrician to order it. Dr. D

treats many Alports kids apparently so we are in the best place. He was

upbeat and reassuring. This is just very hard to hear and to take.

Thanks you guys for all your support and prayers. Please continue to

pray for Rob. and Rob 15 Spondy

[Guest guest]

-..

I know im kinda late, but i wanted to let you know im sorry to read

of Robs aditional dx. I havent looked what this alports is all about

yet. But i hope that the medciation keeps it under control and you

are able to find some peace. I know this must be quite the blow. Its

never easy hearing theres something wrong with our children

thinking of you both....

hugs Helen and (7,systemic)

-- In , snooksmama@j... wrote:

> Rob had his followup today to receive the renal biopsy results.

> The nephrologist thinks Rob has Alports syndrome. If you look it

up on

> the Internet it can be quite frightening. Some sites I read said it

> always leads to renal failure in males.

> Today the nephrologist was trying to be as reassuring and upbeat as

> possible. I was having a hard time deciding whether he was just

trying to

> give us hope...I don't know. Bottom line: Rob's BUN and creatinine

are

> NORMAL. That is awesome news. The bad news, there is irregularity

of his

> glomerular basement membrane. Instead of being smooth, there are

> lamellations or cracks in it. This is indicative of Alports.

Today, his

> urine had gross hematuria/visibly bloody. 2+ blood in his urine,

protein

> and casts. The protein is the bad part. The protein is what causes

the

> kidney damage. So we are going to treat that with Cozaar. It will

lower

> the protein, the blood pressure (Robs is borderline high and that

is a

> sign of kidney disease) and it can actually REBUILD the damaged

areas of

> kidney! So this is wonderful news. Years ago they had nothing to

treat

> it. Alports is incurable but if you can control the protein

spillage you

> can control the disease.

> The only way to really diagnose this is with genetic testing that

costs

> $3000-4000 dollars and of course insurance wont' pay for it

because it is

> not always reliable. So we are going on the biopsy results that he

does

> have it.

> He said that there are many different variations of Alports and

some are

> severe, some are not. Some people lose their hearing and sight.

They will

> keep a watch on that. There is some genetic research and they are

hoping

> someday for gene therapy. The thing is, it is relatively rare,

affects

> only 2 people in 20,000. Some can start out mild like Robs and

stay that

> way for years, then go to renal failure. Some are very aggressive

right

> away. So he will have to be very carefully watched. Labs to be

repeated

> in 2 weeks and he wants to see Rob in 2 months, that will be the

same day

> we see rheumatology.

> Rob although he was in the room didn't really get all that we were

> talking about. Dr. D. was very careful around Rob about the

wording he

> used. The words end stage renal disease, dialysis etc were never

> mentioned. Rob as always was still the happy go lucky guy and he

had very

> few questions. I guess little by little he will come to know what

all

> this means. I am just worried about his eyesight and hearing. Dr. D

> didn't mention it, and it was impossible to ask with Rob being in

the

> room, but I think I am going to get him a hearing test just as a

baseline

> so we will know if there are changes. I am going to get the

pediatrician

> to order it.

> Dr. D treats many Alports kids apparently so we are in the best

place. He

> was upbeat and reassuring. This is just very hard to hear and to

take.

> Thanks you guys for all your support and prayers. Please continue

to pray

> for Rob.

> and Rob 15 Spondy

>

>