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Marnie

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  • Birthday 12/31/1958

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  1. Hi all, I found this while trying to find a place to do skin fibroblast testing. I have never heard anyone else mention this. http://tinyurl.com/23zdqzd Marianne
  2. Hi all, I wanted to bring this topic up again. I am still trying to find a facility or doctor to do this testing, skin fibroblast biopsy. Has anyone had this done or any success finding a facility? thanks, Marianne
  3. Thanks, I definitely will pass it on to Dr F. I don't know how many people he contacted trying to find a place that did the test. Right now he has Laurel running through a bunch of testing, scans, etc. but we haven't any results yet. Laurel doesn't think she will show what he is looking -- high cortisol --, since she never has before, so maybe he will get back on board with looking into this as a alternate dx. Marianne
  4. I was referring to the excess receptors you first posted about. How I understand it is that your body reacts to smaller amounts of cortisol as if you had high levels, the receptor cells are hypersensitive and not working right. I am really bad at the whole science part of this so I have had trouble understanding much of what was going on with Laurel as everything gets more complicated. The more stuff they come up with, the less I understand. Luckily she is starting to investigate and has a better understanding of the science part than I do. "so is glucocorticoid hyper sensitivity the same as glucocorticoid resistance ? or are they the opposite of each other ?" I believe this is opposite, articles about this often discuss both, since they have the same origin (I think) -- cells that are not working properly. When we first started looking at this (about 2 years ago), we only found 2 cases referring to it, one from Japan in the 1980s and one from a group in NY in the 90s about an adolescent girl. (I can't find the one from NY using Google (Dr Maria New and Dr R Newfield are authors) but we were able to get in contact with one of the authors, Dr Newfield. Dr F wanted to know if he knew of somewhere to have Laurel tested for this. Dr N didn't know, it is not something labs do, and he felt Laurel should go on testing for cyclical because the hypersensitivity thing is so rare.) Laurel then developed and had surgery for intracranial hypertension and we got kind of side tracked. (We are now pretty sure the keto caused that, ICH is often caused by raising and lowering of cortisol. The doctors only attribute it to her being an adolescent overweight female. Doh! I wonder if there is a connection??!!?!) Dr F is Laurel's only doctor right now. Laurel hasn't had an endo here in Atlanta since she started on the keto, her ped endo fired us because she felt it was way too dangerous an experiment and she could lose her license if she helped at all. (I love this doctor. She tried really hard to find of cause for Laurel, and was convinced she had cushings but the lab work never showed it. And, since she is at a regular teaching hospital, that insurance controls, she couldn't go with the more "out of the box" treatments or testing.) This has been really scary, especially when the ICH started, since Laurel has no one locally who really knows what is going on with her. I'll post more when we get some results or news. I was so excited to read about this here. If it is starting to be more known, maybe the testing will be available soon. That is the great thing about Dr F, he keeps testing. Marianne
  5. This is called Glucocorticoid Hypersensitivity syndrome. Dr F has been trying to find someone who can test for it for my daughter, Laurel. (I have posted about this in the past.) We have yet to find anyone who can do the tissue cell biopsy to dx it. He ended up putting her on keto last year, even though she has always had low/normal cortisol and really low ACTH, as a "proof of concept". Within a week her symptoms were getting better and she had lost 24 pounds in 10 days. She continued getting so much better until slowly the keto lost it's effectiveness. Dr F just took her off of it so she can start testing again, and boy, are her symptoms coming back with a vengeance. We haven't gotten any results back yet, she has a pit MRI tomorrow, but he now thinks the keto may have caused an undetectable pit tumor to get bigger because her ACTH is really high and that it isn't hypersensitivity. We disagree. It would be great if there is more information about this, everyone thinks it is so rare it is not possible. Marianne
  6. I heard this also and wondered about it. When we looked into getting Laurel's hump removed to try to alleviate her back pain, we were told since it was brown fat, it was denser than regular fat and would have to be removed like a tumor instead of by lypo. The doctor said that brown fat, like the hump, is indicative of excess steroids, that's why it is common in cushings patients. marianne
  7. Thanks, Robin. I just forwarded it on to both of Laurel's doctors. She is not doing very well but recent testing is so confusing. Results continue to contradict others. Laurel is a mess right and still no clear cause. I really hate dealing with this 24/7. I was shocked to realize just how much Laurel health has effected our lives. It has taken over our whole family and shows no signs of letting up. I just have to keep looking for the answer. thanks, Marianne
  8. Robin, Could you post the link to this article? I'd like to send it to one of Laurel's doctors. thanks, Marianne
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