Guest guest Posted July 8, 2002 Report Share Posted July 8, 2002 In a message dated 7/8/02 5:06:04 AM Pacific Daylight Time, juhlmann@... writes: << has had very abnormal urinary organic acids, also only having one > set done (severe ketosis, elevation in dicarboxys, 100% increase in lactic > acid) but has never had any serum amino acids done. As far as Jonathon having every organic acid increased - I don't know. >> Hi Anne, only had his ketone bodies (acetone, 3-0H-butyric elevated 100x normal) and his dicarboxys elevated on his urine organic acids-not everything elevated. Neither of my boys have ever had urinary amino acids done and has never had serum amino acids done. So, I guess we don't have all the answers. Regarding asking the doc, I asked for a case conference with our genetics/metabolic doc, our PCP and (Dr. Cohen trained) Dr. Saneto right after we got back from Dallas. Still haven't got a date for that yet. I have asked for answers to some questions, but am waiting on the case conference for those answers and a plan of action. Unfortunately, I think the hospital is in " defensive " mode with multiple regulatory agency investigations in active mode, so that is delaying things. Dena Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 8, 2002 Report Share Posted July 8, 2002 Carol, I agree that your urine creatinine is high. That is something to definitely ask nephrology about when you see them. Let me know what they say - I will be very interested. The nephrologist should be able to interpret a 24 hour urine of your electrolytes in the urine if the blood shows that these are abnormally low. If that is the case then basically you will just have to replace what you are losing. It can get tricky and require a lot of micro managing but it at least falls into the fully treatable if not curable category. As for the IBS- sounds like it has really made you feel awful. I hope they can figure out something that works for you soon. I have my days, like everyone, when I don't feel well but my heart goes out to you and the other mom's who are struggling with your own health issues on a *daily basis along with caring for your children w/ special health care needs. Your resilience to continue finding answers for yourself and your children when you feel so lousy is a wonderful thing to see (or read about I guess). Anne Re: Renal Tubular Wasting Dear Anne: Wow! What a great response......now I have more questions...if you don't mind... First to recap, my 24 hr. creatine levels have been checked 2X, one was 519, the other 523 (range is up to 100 I believe). To me....that's really kind of high. The first test I had a urine volume of 1400, the second 900 which was done 2 weeks after the first. I feel as though I am not urinating volume wise what I should be. Although I am urinating with the same frequency, the volume is significantly decreased. I am sure that my labs, which will be back this week will look funky anyway. I am also sure and now worried since you mentioned that good stuff (lytes, etc.) can be getting dumped in my urine that I am in double trouble as I also have developed IBS over the past few months. In addition to that......I seem to have developed an aversion to food and have basically stopped eating except once a day and it's only minimal because 1) I feel nauseous after I eat or 2) everything I eat is immediately evacuated. I have been given Nu-Lev for the IBS, however if I take it as directed, I go back to my usual hyperconstipated self. I have played around with it and find that I can keep the IBS to a manageable level if I take the Nu-Lev once a day, every other day. With regards to nephrology....I have been trying desperately to see someone around here (Philly) for a month. I have an appt at HUP in August. So....I won't get any testing until then. I just hope there is no disease process ravaging my kidneys that needs to be treated NOW! When I saw my first Mito doc on 6/28, he was a little piqued by my urine creatine level and said, "oh..we should get that looked at..." I know I feel like crap and I'm 40. Some of my symptoms I have had in mild form for years, others are new. I can't even imagine feeling like this and being a child.......God bless your sons.....And thank you for your incredible and clear description of the kidney function!!!! Carol Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 8, 2002 Report Share Posted July 8, 2002 In a message dated 7/8/02 11:03:54 AM Pacific Daylight Time, aplant@... writes: << Evan's labs are so much like 's. Evan had acetoacetic 100X and hydroxybutyric 30X normal. He also had increased branched chain amino acids and high arginine with low cystine on one serum amino acid test. Cystine is a sulfur amino acid and problems with sulfation chemistry and glutathione (very powerful sulfur based antioxidant that is important to combat the increased oxidative stress that is present in mitochondrial disorders) have been noted in Parkinson's, Alzheimer's and other mito based disorders. >> Wow....I hadn't realized that Evan had the same amino acid similarities also. and have the high ketone bodies, but only has had serum amino acids done. What was Evan's cystine level? ('s was 1, with normal being 36 to 58). His arginine was 223 (normal44-130) and his aspartic acid was 43 (normal0-14). Then, of course, his BCAA were elevated also, which is expected with organic acidemia. I would love to see the other reseach to take to the genetics/metabolic doc. I am determined to find a way to help build back up 's muscles and to decrease his fatigue. When no one can tell me WHY his muscles are having atrophy, then no one can tell me that it can't go back to normal. That's my philosophy anyway. I am really appalled when a doc has said that I'm consumed with the boys' health. I dare any doctor to say he would just accept and give in,if it was HIS child, who was crying because he can't do what he used to be able to do...but yet no definitive answers or solutions. Dena Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 8, 2002 Report Share Posted July 8, 2002 Dena, Evan's labs are so much like 's. Evan had acetoacetic 100X and hydroxybutyric 30X normal. He also had increased branched chain amino acids and high arginine with low cystine on one serum amino acid test. Cystine is a sulfur amino acid and problems with sulfation chemistry and glutathione (very powerful sulfur based antioxidant that is important to combat the increased oxidative stress that is present in mitochondrial disorders) have been noted in Parkinson's, Alzheimer's and other mito based disorders. Evan's most recent urine amino acids showed a significant elevation of taurine (another sulfur amino acid) 586.9 (rr 72.2-210.9 mmol/mol cr). He probably has sulfate wasting, which is causing him to be low in the building blocks for glutathione. His functional glutathione status was low on lymphocyte testing (65 vs. rr >85). In April, Evan started getting bi-weekly glutathione infusions and they have helped a lot with his exercise tolerance and he definitely looks more healthy. Glutathione infusions have been used successfully in Parkinson's. Dr. Kelley was impressed to hear that Evan is getting IV glutathione. I will try to dig out some research on glutathione and mitochondria to share with the list. Have a great day ), Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 8, 2002 Report Share Posted July 8, 2002 Melody: I wish I was smarter to know if the sludge is from the kidneys. I don't know but can tell you that my little boy also has had sludge and "debris" seen in his bladder on ultrasound but I don't ever see anything in his diaper. I was told that his was from neurogenic bladder. he does not need to be cathed every day but more and more they are putting an indwelling foley in him and leaving it for 7-10 days to rest his bladder which seems to have periods where it gets very neurogenic. That has been my experience but again - I am not seeing anything in his diapers. The sludge and debris has only been on ultrasound. If the explanation you got was that it was her kidney tubules sloughing I might ask the pediatrician or urologist if they think a referral to a nephrologist would be appropriate. Seems like it would be. Are you saying that she does not urinate on her own for 24 hours but if you cath her her output is appropriate? If so then it would seem to be more of a neurogenic bladder/urology issue. However keep in mind that what starts out as a bladder problem can end up harming the kidneys. For example my son's neurogenic bladder has led to urine backing up into the kidneys and causing hydronephrosis. Now if you are catching her and not getting any output for 24 hours that seems much more concerning to me because that would mean the urine is not simply sitting in a bladder that does not work. It would mean there is a problem higher up. In that case a nephrolgist would seem most appropriate. A diuretic may not help if the fluid is seeping into her tissues and out of the blood vessels. Diuretics help when fluid builds up in the lungs and in the blood vessels but if she is actually volume depleted in her blood vessels and the fluid is all in her tissues - diuretics may not be the answer. Hope this makes sense. What kind of problems does your daughter's liver give her? Does she have bleeding issues? This seems to be our biggest issue with liver disease. Re: Renal Tubular Wasting Hello Carol and Anne: I was reading your posts on renal tubularopathy/renal tubular wasting and would like to know what symptoms you/your child has. My daughter has Alpers disease, a neurodegenerative disease with cirrhosis of the liver.In Jan. 2001, she began having what we call "sludge" in her urine periodically. Her GI doctor ordered a urinalysis and culture and there was no infection, viral or bacterial present. They said there were a large number of epithelial cells and suggested we contact a urologist and mentioned sloughing of the renal tubes. I wasn't sure why a urologist was recommended as opposed to a nephrologist? Anyway, we haven't made that appointment yet and the "sludge" continues..sometimes several times a week. It looks like soft margarine in her diaper. She will go sometimes up to 24 hours without urine output despite continuous NG feeding and we will dilute her formula with Pedialyte or either straight Pedialyte and this helps. She also has swelling in her face, especially around her eyes..and sometimes generalized edema, but mostly on the right side of her body. She takes Aldactone (potassium-sparing diuretic) daily and has for several years, prescribed by her pulmonologist. My daughter has never seen a kidney specialist. Does this sound like renal tubularopathy symptoms? What can be done to treat this condition? I would appreciate any advice you can offer. Thanks! Melody Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 9, 2002 Report Share Posted July 9, 2002 Hi Melody: Gee.... I have no idea what your daughter is doing!? My only symptom is that I have mega doses of Creatine in my urine and my urine output has decreased from 1400 to 900 ml? a day. I have had conflicting information from both my GP and now neuro whether or not it's "a big deal." I have seen RTW mentioned in all the mito literature but not heard/read it discussed on this board. I have an appt. with a nephrologist next month. Anne is very well versed in RTW...... Carol Renal Tubular Wasting Dear Ann: As I was reading your post re: CoQ10, I saw that you mentioned Renal Tubular Wasting. Can you tell me more about their symptoms and what the lab values were that indicated that diagnosis. I have had sky high urine lab values for my creatine but my serum CK is ok. A few docs I have spoke to have had two reactions to my levels. It's either, get that checked out immediately or...hmmm...don't know what that means...probably nothing!!! In addition, I have developed over the past 5 months, uncontrollable hypertension. I am on my 2nd BP med (which is also supposed to help my migraines....) Thank you! CarolPlease contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 9, 2002 Report Share Posted July 9, 2002 Melody: I'm sorry. Though my boys are not quite as ill as it sounds is, we have had to grapple with many of the same issues and questions with Sam in the last 18 months. How far is too far and when is enough - enough? It is a very helpless feeling when no one has answers. A cardiologist friend of mine used to say that Mito was a disease where we knew less far more than we knew - questions more than answers. I'd laugh but when my son gets critically ill, it' a horrible feeling to realize that no one knows anymore than I do. Though I am fortunate to have MDs/ family/friends who will stand in that unknown abyss with me - it still feels very lonely and overwhelming sometimes because they can walk out when they need to and I can't. My 10 yr. old actually said a perfect thing the other day. I was leaving to go speak to the med students and he asked when I was going to talk with them about. I told him "what it is like to be a mom whose kids go to the hospital a lot". My sweet boy looked at me like I was the dumbest person he had met that day and said "What? You cant TEACH them that - they have to just have a baby that is like me or Sam and then they'll learn it." Yes, that's about it. Sammy's bleeding still responds to various blood products so we are still in the mode of giving them. FFP used to work but it takes about 5 infusions to stop the bleeding now. The last few months we have been giving cyroprecipitate which works much better. I don't know if you ever tried it but it is much more concentrated with different things they need to clot without all of the volume of FFP (which I would think would be very hard on ). I think his 2 units are only about 40 cc versus 200 cc in a unit of FFP. Sam has gotten platelets but they don't help at all - the platelets remain at the same exact number or even go down . Red Cells we have to give every few weeks because of his bone marrow failure - he does not make new red cells ever - his retic count is practically non existent. For us giving blood products is easy enough because of the central line but ofcourse that carries its own risks. WE have tried to do a few minor surgeries in the last few months. The last one was simply putting in a new central line - so it did not even involve a mucus membrane which is where Sam usually bleeds (GI tract, mouth, nose, ). He bled for days and days and still a month or so later he has a hematoma at the site that he continues to bleed into periodically. It then set him off bleeding everywhere else - his urine was bloody, the J and G tube drained frank red blood, G and J sites oozing, and hematomas everywhere. he has yet to reabsorb the blood in many of the hematomas. It scares me because he just does not stop without a tremendous amount of intervention. I don't think he could ever get through a major GI surgery though he really needs one to move his Gastrostomy, which is prolapsed. We stopped giving extra Vit K and only give the regular daily injectable amount that is in the TPN vitamins now. For Sam it just did nothing - his PT remained about the same no matter what. Have you found it helps ? I've been thinking about trying it again because he is really bleeding more these last few months. We too do not give albumin anymore. It seemed silly and a quick fix - like you said. Now when Sam gets edematous we have found it is better to do nothing initially. The residents and nurses have a very hard time with the fact we do not give albumin and lasix but our MD is very adamant that it will not help if he is intravascularly depleted. WE wait until there are signs he needs lasix like fluid in the lungs and then we give lasix and only very very small amounts. Even those amounts throw his lytes into a tailspin which complicates everything. There may be things a nephrologist could do to help that would not be invasive. Who knows but it might be worth a conversation. Do they have a pain clinic at the hospital or a palliative care program? These doctors can be very helpful with the pain issues and helping the staff to feel more comfortable with now and with advocating for your family and . Even though you do not wish to pursue invasive treatments for your daughter there are many many things they can do to help her feel comfortable. Sometimes I think it is hard for staff to understand that just because you want to minimize hurtful or unhelpful or bandaid treatments, you still want to understand new issues that come up and look for treatments that could improve her quality of life. It's like they only know how to stop or to go 60 miles an hour and they forget they can still go 10 mph and that you and need their support and help. Anne Re: Renal Tubular Wasting Anne: Bleeding issues are our biggest concern with 's liver condition as well. Her platelet count is always 18,000 to 40,000... sometimes even lower. She has bleeding episodes, mostly from the lips and gums, but has had a lower GI tract bleed, bleeding from the sclera of her eyes from "bloodshot" eyes, significant bleeding from her lungs, blood in her urine, esophagus and regular nose bleeds. isn't catheterized ever, her doctors are hesitant to do any invasive procedure due to the bleeding issues. The last time she was catheterized for a urinalysis, she bled frankly for 15 days...every diaper was solid red. She has developed brittle bone disease as well from the liver disease and immobility and she had a femur fracture a few years ago that needed surgery and a pin near her hip, but the ortho surgeon said it was out of the question at the time due to an extremely low platelet count and active bleeding. We used to have her admitted to Childrens overnight and she would get fresh frozen plasma, red blood cells and platelets. She swells a lot and has a lot of edema...her albumin is low. She used to get albumin transfusions as well followed by IV Lasix. She would be dehydrated, but edemateous as well. We are not as aggressive or "pro-active" with treatments, transfusions, and all as we used to be as she has gradually worsened over the years and these things are only "quick fixes" anyway. She's usually right back to square one in two to three days. We decided we were traumatizing her more and exposing her to more infection doing what we were and she has since done as well without all the transfusions. She gets Mephyton (vit K) IM injections .5mg three times a week for her liver. I wasn't sure if there is anything that a nephrologist or urologist could do for that wasn't invasive. Her condition is so extremely fragile these days. She's on 8 to 12 liters of O2 and Bipap dependent and still has increased difficulty breathing with desat's to 50 to 80's each day. She does get a diruretic..Aldactone.. 5ccs daily. I've recently read that this drug can cause Renal Tubular acidosis. She's been on Aldactone (Spironolactone) for about 6 years now for fluid buildup in her lungs. Have you heard of this? She just acts uncomfortable right before a wet diaper with "sludge" and I'm concerned about pain issues. We want to keep her as comfortable as possible in the easiest possible way. None of her specialists seem to have any answers anymore and act uncomfortable with all of my questions. I have felt them pulling back for a couple of years now and I feel it's because the state that is in now...they just don't know what to do either or feel we should just do nothing. This is very frustrating for me... I just don't know what to do sometimes and feel helpless. Thanks for the information...this group and the information I've learned here has been a great help and comfort many times! Melody Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 9, 2002 Report Share Posted July 9, 2002 Melody, This may not be appropriate for your daughter, but has anyone ever suggested using Florinef and lasix together? Florinef keeps the fluid in the vascular space, to maintain circulation, and the lasix helps with the tissue edema. We used to use spironolactone but it suppressed her aldosterone level, and caused other problems. My daughter was first dx'd with diabetes insipidus, then later neurogenic bladder and central D. I. as well. We had only used lasix under extreme conditions, but several years ago, an M. D. friend of ours read of lasix being used to treat nephrogenic D. I. Not sure anyone has ever explained why it actually works, but apparently it does in some people. For my daughter it has made a huge difference. Now she gets it regularly, and most of her D.I. is under control. Stop it, and we get in trouble quickly. It would be worth discussing with your doc, as neither are invasive, just a matter of adding another med. We use dyrenium once a day - a potassium sparing diuretic, along with lasix, florinef, and potassium. By giving the right amount of lasix, she doesn't seem to waste as much K, but if we cut back on the lasix, she inevitably wastes more K. If we give too much K, then she wastes more and the level drops. If we give too much dyrenium, the same happens. It's a fine line, but with the right amounts, it does seem to help. Also wanted to mention, that Caitlin's O2 requirement has also diminished greatly since we started using the above meds routinely. She was not anywhere near as dependant as your daughter, but used 5 - 8 liters and has gradually tapered down to 1 - 2 liters during sleep. Jeannine > She would be dehydrated, but edemateous as well. > Quote Link to comment Share on other sites More sharing options...
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