At A Loss

My daughter was diagnosed at age 5 but was in & out of hospitals since 2 1/2. Finally the on call doc at hospital knew what she had. We had even been to a children's hospital in Dallas, TX but that kidney doc wouldn't even run tests. So we were sent to Houston, TX & wow did he have answers! You must keep looking for a specialist! I fight ER's & docs ALL the time. We have recently moved to a small town in South TX & I am educating them on my daughter! My daughter at first diagnosis had blood tests every week, then every 2 weeks, then every month, & now every 6 months. As your body changes so will your meds. And if you get sick, you need an extra dose of meds. My daughters is pretty severe. She is only allowed to run 1/4 mile at school & NO outdoor sports in hot weather. Oh yea we move around due to my husbands job, so fighting schools is even harder! I researched foods high in potassium & magnesium, because you need them to help levels. She also takes a multi vitamin. I can go on & on but don't want to wear out my welcome on this site. I don't have all the answers, due to every one w/ this is different. But when we moved, Alyssa's pediatrician called me one night asking how we were doing & gave me the highest compliment I could have ever received! He said he truly believed she was so healthy & over came the short stature do to my staying on top of this! So I am here for advice or for a shoulder to cry on. This in a nut shell SUCKS!! I battle my daughter because she wants to do everything everyone else does. Oh, I need to warn you about Tetany!! When my daughters magnesium gets low she has a tetanic episode. It usually comes on slow & starts in her hand. But the only way I can explain it, is a muscle cramp in her entire body. It's very scary & the only way for her to come out of it is IV magnesium. Please feel free to ask me anyhting & I will try my best to help!

I didn't even know this disease existed until I read your story and these interesting comments. I understand and want to further research this now. Sorry I don't have any answers.

I found out i have gitelmans syndrome in my 5 week of pregnancy and unfortunetly bless his heart i lost him at 25 weeks because me nor my doctor are familiar with this disease my husband and i would love to try again but were terrified to lose another child i had two doctors working with my condition but i live in a tiny little town were no one knows anything about rare diseases that come to town they almost act scared of me sometimes i get very frustrated with life and give up a lot

I wish I could say that finding answers gets easier but it really doesn't I was diagnosed at 17 (I am now 22) And I hated my first dr. She knew nothing, and was not willing to work with me. I have recently found a new Dr. and he is great. But again he doesn't know much, but he is willing to try new things, work with me, and be creative. That's key! With GS you have to take a lot of your treatment into your own hands. Learn what works for other people, and try it, but know it may not work for you. Find a Dr. who is willing to understand that everyone person with GS is different. It is a disease about sympotom management and if you feel fine your levels are probably fine (that was my struggle with old Dr. I run at lower potassium level, getting my pottasium "normal" leaves me feeling ill, shaky, and uncomfortable)



Finding people who know about GS isn't easy but finding people willing to learn can be. :) best of luck, and I know this is an older post but I still hope it helps

Maltman,, I am new to this group and saw your post.. How are you doing lately..its takes a while to learn about this thing.. My son has it and he is 10 and he was diagnosed at age 7..So I can feel for your frustration about learning about this.. So I hope your doing well...lemondrop1

hi My son was diagnosed with G.S. 4 years ago at the age of 6. His consultant in the childrens hospital in Dublin says he has a very severe case of the illness. Regurlar, (at least 6 monthly) bloodchecks and urine checks to check electrolytes and potassium levels are helpful. He takes high levels of potassium supplements, indomethacin,(to draw the potassium into the bloodstream), zantac (RANITIDINE), to protect his stomach from all the medication, and salt and diaoralyte and lots of fluids to prevent dehydration. His magnesium levels are usually fine T.G. He hates bananas but eats dried banana chips which contain a lot of potassium.If he looks pale, has blackness under his eyes, is passing severe amounts of urine, or if he is playing a lot of sports and physical training, we add extra potassium rich foods and salt and potassium rich drinks eg,Lucozade sport. to his diet. Also, if he gets even just a slight cold/infection, we have to try and get rid of it straight away as it tends to " bring his whole system down". I got his doctor to type out a letter for the hospital A&E Dept. recommending that he is a PRIORATORY PATIENT that need to be put on an I.V. drip with added sodium and potassium if he presents in the hospital after severe vomiting...dehydrated. This has proved to be very helpful in the past. He takes his medicine 3 times daily...usually without bother but sometimes it "gets him down". I tell him he is my hero regurlarly and show him that I understand as much as possible. I really feel for him as I know it can make life hard .He is a great inspiration and although I would take it on myself rather than have him ill in anyway, we treat him like all the rest but are consciously,keeping an eye on his health and well-being in a not very obvious way. Nice to here of others comments ...hope we can be helpful friends to one another!!

I was diagnosed with GS about 10 years ago only because my brother was diagnosed and my family had to be tested for it. Out of 4 kids my brother and I had it, only I was not exhibiting any of the symptoms my potassium was just low. A year ago I had a baby and if you have this you MUST see a Perniotologist (high risk pregnancy Dr). My Dr, Dr Paul Wilkes was so great and tested my levels all the time. Every case study he found for people with GS ended up in the hospital and I didn't. We were both so happy, I had to take 12 20 MEQ of potassium every day, which wasn't very fun and 5 500 Mg of Mag. I worked 30 hours a week and ended up going on bed rest the last 6 weeks due to toxemia. So if any women out there are pregnant and have questions I am happy to answer them for you. The key to our sickness is plenty of rest, which is hard sometimes, and taking diligently taking your medicine. If you balance everything, and make time for it then you can still enjoy your life with exercising, work and time for your family, and yourself. I know this disease can be very frustrating I have had my share of frustrations, but I'm grateful I'm not battling other serious illnesses. I love reading everyones posts, hang in there and be strong.

The exhaustion and cloudy brain are the most difficult for me to accept. I feel for

Everyone who has posted. My nephrologist really does not know how

to treat Gilteman Syndrome. Does anyone know of a doctor who

Is familiar with the treatment of Gilteman Syndrome? And, has anyone

been genetically tested?

The exhaustion and cloudy brain are the most difficult for me to accept. I feel for

Everyone who has posted. My nephrologist really does not know how

to treat Gilteman Syndrome. Does anyone know of a doctor who

Is familiar with the treatment of Gilteman Syndrome? And, has anyone

been genetically tested?

Like many of you it's nice to know that there are others out there going through pretty much the same thing that I am experiencing at the moment. I'm a 23 year old female and am sick of lying on the couch constantly and not enjoying life!

I was diagnosed with GS 6 months ago and have am on potassium and mag supplements as well as 10mg of amiloride.

Recently I have been feeling horrible again (exhausted, no energy, hard to concentrate, sore muscles) and have discovered that my K level is low again (despite taking my meds). I was quite upset to hear this as I thought all the medication that I am on would be working- obviously not! I am due to go into hospital in the next day or so and have a potassium IV for a few days.

From some reading I have done I have noticed many take spironolactone instead of amiloride. I might see if this has any affect.

Any advice?

Also, is there definitely a link between drinking alcohol and potassium loss even if you're taking medication for it?

Will repeated trips to the hospital to have an IV in my arm become a monthly occurrence?

bwilly, I guess where sort of in the same boat I have not been quite diagnosed with the disease itself, but told I have the symptoms I stay a little dehydrated.. and I'm dumping an excessive amount of potassium but other then that my electrolytes are fine. I feel after a year and a half that I've gotten better I work 3 days a week 14 n a half hours a day I'm a dialysis nurse I workout 3 days a week for about an hour for the most part of it my potassium hangs around 3.9... maybe a few times out the month I may get a low 3.0 3 .2 but I'm still working on understand it myself , but I do feel better. far as begin unbalance that will come and go. I hope I answer most of your questions... and the more I find out I will share.

I'm really happy to have found this forum. It's difficult to go through this without having others who understand what it's like to struggle with an electrolyte imbalance and all that goes with it.



Almost exactly a year ago, I ended up in the ER with my potassium at 2.8. I know that doesn't seem low at all considering that I've read so many people with this syndrome are walking around with it much, much lower, but even so, it was the beginning of it. Since then, I've been to 17 doctors, none of which could figure out why my body was dumping potassium. Finally, a Nephrologist figured it out. He said I have a potassium-wasting nephropothy that's very much like Gitelman's, but technically not full-blown Gitelman's. He admitted it's a vague diagnosis, but the symptoms are there for sure. He's still working on tweaking my medication levels, and I feel exhausted most of the time, which as you know, makes everything more difficult. I'm having a really hard accepting this whole thing, especially since I've always been so athletic and active. I haven't been able to exercise for a year now. I've just begun to be able to take some walks, but even so, that can be a struggle at times. Anyone have any advice in terms of how to combat the "blues" in terms of dealing with this? Will it ever get easier or should I expect to feel tired and unbalanced most days?

Thanks for the advice KSTAVER. I really do appriciate it and Your totally right never once had abroken bone. Dr's actually were surprised when I was in my accident that I walked away with scratches LOL.

I was told I have gitlemans Syndrome in 2008. I am in the Military and have been asymtomatic for the most part. They are trying to discharge me due to the fact that I cant be sent to areas where there is no hospital. I have been deployed for almost the last year and was just returned home because I was walking around with a level of 2.5. The Dr was mind bogled so to speak. I knew it was only because he never heard of it, I tried to explain it to him, but he painted a pretty ugly picture on what the outcome could be if my heart stopped. I read these stories and I cant bring myself to believe that this is a serious disorder and it gets very frustrating to have to explain it to the Dr myself. These stories I can relate to in many diferent ways. Its kinda freaking me out. I feel fine and relate my similar symptoms to jsut everyday life stressers. Is there a good place to get some good research on this condition? Please let me know.



Blondebulldog

Wait, the doctors want to replace his kidneys? They do know that it won't work that way? It's a genetic disorder so replacing organs won't do much and may cause more damage. Is your son seeing a Nephrologist? Has he been taking potassium chloride, magnesium oxide, and aldactone?



As a fellow person with this genetic disorder I was told that it's not something you can just fix with a surgery. You have to take electrolytes, occasionally get infusions when needed, and take a diarrhetic such as aldactone(spironolactone). Taking the diarrhetic helps motivate the kidneys to absorb potassium and magnesium. So if you take it along side with a monitored amount of potassium and magnesium then after a while(3 yrs for myself) the levels stabilize and as long as you monitor your health and take your meds everyday you'll be fine.

Hello maltman

My son has had Gitelmans Syndrome for over 15 yrs now. We are always looking for any help and advise form others. You are right about no one really knows about Gitelmans, it's so rare that when we have had to go into the ER the doctors have never heard of it.

It's been very frustrating and tiring at times.

My son is now 35 yrs old and has had Gitelmans since he was 18. He was able to work for a while but has had to go on disability. Now his doctors are wanting to remove both of his kidneys and put him on dialysis until he gets a transplant.

I'm sure my son could tell you a lot more then I can about Gitelmans, if your interested I will have him contact you.