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[sammie8450]

Hi to all,
Not sure this is the place I need to be and if not maybe someone can lead me in the right direction. i have a 23 yr old daughter with Joubert syndrome and Senior loken syndrome. She has mild to moderate mental retardation,lives in a house with 1 other girl and round the clock staff for the last year. In July she fell to the floor so they took her to the ER and the dr said to call the kidney dr. she is stage 4 kidney failure. As of now we are stage 5 with EGR of 13. Next  tuesday she has fistula surgery and the following week surgery for cervical polyps. We are having a hard time with getting her iron level high. Right now it is 8 and she has had 7 iron IV"s. since she is disabled and on medical ass. her dr said they won't pay for procrit until her level is 20. having a hard time getting there though. She does talk very well but her pain level is not like ours. She really doesn't feel it so is there anything I should watch out for? My head is filled with questions but I don't even know where to start. We have had a dr say maybe just do nothing but pain meds. My daughter means the world to me and we have worked very hard to get her where she is today, well a few months ago, that I can't give up without trying dialysis. Sorry to ramble on but if you need more info from me please ask.

[MooseMom]

Forgive me; I'm a bit confused.  Is she in pain or not?  When you say that she does not feel pain like the rest of us, but the dr. is suggesting do nothing except give her pain meds, are you saying that she feels pain more or less intensely?  Is her low iron level causing her pain?

Let me ask you this...when the doc says they won't pay for Procrit, does that mean she really does need it but they won't pay for it because of her financial circumstances?  Do you think she needs it?

Do you think it might be worth consulting a hematologist?

On a side note, I'm really glad your daughter was able to find an appropriate living situation.  That's pretty rare these days.  I can imagine the hard work it has taken to prepare her for independent living.

[willowtreewren]

Hi, Sammie! 

My first reaction is anger that the dr. would suggest ONLY pain relief! 

It must be hard for you to have worked so hard for your daughter only to get that kind of "help"!

Please read through the many threads here and if you don't find the answers you need, ask away. There are so many knowledgeable and helpful folks here.

 

Aleta

[sammie8450]

Sorry for the confusion. The easiest way to explain her pain level is , she had ankle surgery with implants because her feet are very flat and she wore orthotics to her knees but kept getting sores so we opted for surgery. never did she ever complain it hurt. the dr gave her oxycodon for pain and when asked if in pain answer was always NO, if that was me i know it would be painful. She is not in pain now the dr thinks if I don't do dialysis to give pain meds through hospice. Not happening!
As for procrit i am not sure if she needs it and how do i tell if she does? Told ya this is new to me

[MooseMom]

Since your daughter is near renal failure, her nephrologist should be doing regular bloodwork that checks for all sorts of things that go wrong with kidney disease, one being hemoglobin and iron, for example.  I think you should ask for a copy of all of her lab results.  The results should show what the normal range of values is, what your daughter's levels are, and lastly, whether or not that particular value is high, low or within normal range.

Is the doctor actively discouraging you from choosing dialysis for your daughter?  How much of all of this does your daughter understand?  Is she able to make decisions for herself?  Dialysis is very invasive and is dangerous in and of itself, particularly if she is not given the option of doing dialysis frequently.  Normal kidneys work all the time, but dialysis clinics do not.  Has dialysis been explained to her, and is this her choice?

Don't worry about all of this being "new".  It was new to all of us at one time.

Do you know why her kidneys are failing?  Is it part of one of the syndromes from which she suffers?

May I ask one last thing?  I don't mean to intrude, but I'd really love to hear more about your daughter.  What does she like doing?  Does she have any hobbies?  Does she like music?  I know she is much more than just a "syndrome", and I'd like to hear more about her if you don't mind sharing a bit.

[sammie8450]

I get copies of all bloodwork. her latest numbers are hemoglobin 8,RBC 2.89,BUN 50, creatinine 4.09, eGFR 13.52. this was on 10/16/11 She is having blood work again tomorrow.

The dr felt her neurological condition would deteriote but we spent a week at NIH and talked to the docs there who said it would not. I had a talk with our doc and he knows how I feel. Just afraid he will not follow through with it. My daughter does understand most but not all. I have been explaining bits and pieces to her. she does get the iron infusions and have told her it's kinda like that which she has no problem with that.

Most kids with Joubert Syndrome who are going to develop kidney failure do so at an early age. She is one of the oldest to deal with this.

Don't feel like you are intruding at all. my daughter loves music and knows most of the songs out there be it country or rock n roll. She loves spanish since around 11 yrs. old. Very very polite, not sure where that came from , Wish my sons would take after her there. She works with other handicapped people 4 days a week and loves it. She just enjoys her life even though it's more "quiet" than ours and more laid back but I feel I have to give her this chance at dialysis and take it from there.
thanks

[MooseMom]

I am so glad to hear that she is enjoying her life.  Many "neural normal" people cannot make the same claim.

I understand entirely your desire to give her every opportunity to prolong that life; she deserves good medical care.  But my concern is what quality of dialysis care will she have access to, and how will she cope with the side effects of what passes as standard dialysis care in this country?  This is a real bone of contention with dialysis patients who do not have Joubert Syndrome or any other co-morbidities.  Standard in-clinic dialysis is fraught will all kinds of side effects, and as you read more posts from other IHD members, you will see that for yourself.  How do you think she will cope with, say, being infiltrated if/when cannulation goes wrong?  How about when her bp drops suddenly?  Will she be able to fairly happily sit still in a chair, hooked up to a machine, for up to 4 hours three times a week?  Will she be able to limit her fluid intake?  Will the staff at her home be able to assist with her fluids and her special dietary needs?

I think the first thing you might want to do is to get a good idea of how dialysis works and how best to protect your daughter from the side effects.  Go to www.kidneyschool.org and click onto "learning modules".  It's just what it says; it's a course about kidneys, what happens when they fail and what kinds of treatments are available.  It's an easily digestible cirriculum that's very informative.  Read through that, and then if you have more questions (and I'll bet that you do!), come back and we'll see how we can answer them for you.

She sounds like a lovely girl.  I bet you're so proud of her.

[justme15]

Her numbers are pretty close to mine! even the Hgb..although mine is a little lower :-(. I, too, had iron infusions to no avail.  My body has compensated for my anemia quite a bit, but my docs always ask me if I have chest pain, worsening SOB with minor activity, and dizziness/lightheadedness.  If she is having any of those symptoms you should definitely report them to your doctor.

I get copies of all bloodwork. her latest numbers are hemoglobin 8,RBC 2.89,BUN 50, creatinine 4.09, eGFR 13.52. this was on 10/16/11 She is having blood work again tomorrow.

The dr felt her neurological condition would deteriote but we spent a week at NIH and talked to the docs there who said it would not. I had a talk with our doc and he knows how I feel. Just afraid he will not follow through with it. My daughter does understand most but not all. I have been explaining bits and pieces to her. she does get the iron infusions and have told her it's kinda like that which she has no problem with that.

Most kids with Joubert Syndrome who are going to develop kidney failure do so at an early age. She is one of the oldest to deal with this.

Don't feel like you are intruding at all. my daughter loves music and knows most of the songs out there be it country or rock n roll. She loves spanish since around 11 yrs. old. Very very polite, not sure where that came from , Wish my sons would take after her there. She works with other handicapped people 4 days a week and loves it. She just enjoys her life even though it's more "quiet" than ours and more laid back but I feel I have to give her this chance at dialysis and take it from there.
thanks

[Charlenestols]

hi my is Charlene i am 34yrs of age, i have been on and off dialysis since i was 18yrs old i had 3 transplant and going for the fourth hopefully next year 2012 

[lmunchkin]

Welcome Sammie!  So glad you are there for your daughter!  She needs an advocate, and you are ther perfect one!  Hope you get the answers to all your questions.

Again Welcome & God Bless,

lmunchkin

 

[Ang]

 

[CebuShan]

       you've come to the right place to ask questions. Chamber are someone here knows the answers or can steer you in the right direction. I love your description of your daughter. Loves music? My kind of person! Quiet life? I should be so lucky! Anyway, welcome to our family!       

[big777bill]

  Your daughter sounds like a wonderful person and I know she gives you much joy. I think we feel our children's pain more than they do. I'll be praying for you and your daughter. God Bless

[sammie8450]

Thanks for all the warm welcomes.
My daughter had her fistula surgery yesterday. She is doing well and taking it easy. The nurses loved her and gave her pt. of the day award.I do realize D can be hard on a person and hopefully she can handle all of this. I as a mother can not,not give her this chance since I know my other option would be death . Her house is doing everything to accommodate her also, got very lucky there. Also I am very involved in her care and go to 99% of appts. I will be at D with her and can usually read her like a book so will probably be able to tell if I made the right choice.

[MooseMom]

I'm so glad her surgery went well.  I hope her new fistula will have plenty of time to mature before she needs to start dialysis.

Have you visited the clinic where she will be having dialysis?  I am thinking that it might be an idea for you to talk to the social worker there before your daughter actually begins her sessions.  Some clinics do not allow visitors in the treatment room...will they let you sit with her during her entire session? 

I know you love your daughter and want to be there with her to support her during all of this, especially in her early days of dialysis, but to sit with her for all that time on all of those days...are you sure you need to do that?  Are you sure you can?  That's asking a lot of yourself, especially if you have other family members to look after, so do keep an open mind about this.  Your daughter seems to be happy living in her group home, so I am thinking that maybe after a while, you may not need to sit with her.  There will be staff around along with other patients, and she just may develop a bond with some of these folks.  There is usually a TV for each patient, and many patients bring along music to listen to or other things to keep them busy. 

Keep us posted on her progress!  All in all, how is she feeling?  Is she ill because of her decreased kidney function, or is she plugging along pretty well?

[sammie8450]

I plan on going to visit the D center soon. Also the plan, hopefully, is for me to sit with her the first few times. I do it when she has her iron treatments which she usually sleeps through She makes friends where ever she goes. I am sure most people are just being nice but she really doesn't catch on to that so I feel better being there. As for other family duties ,I do have them, but they all understand as they are older and don't live at home. My hubby works long days so the only thing that suffers is my housework.