Discussions By Condition: I cannot get a diagnosis.

URGENT: Generalized Edema Killing Me

Posted In: I cannot get a diagnosis. 5 Replies
  • Posted By: HeatherShow
  • May 9, 2008
  • 05:20 PM

I've been dealing with some rather severe symptoms for the past year and now I think my body's getting close to falling apart. My heart's under considerable strain, I'm having difficulty breathing, and the pain is really overwhelming. Anything anyone could do to help would be so greatly appreciated; I would owe you my life.

Brief medical synopsis: I'm a 23-year-old white female living outside Washington, DC. I have a history of osteo-myelitis (resolved through amputation of left great toe), IBS, minor Arnold-Chiari Malformation, and a rare genetic condition called Dercum's Disease.
Dercum's is quite complex - it involves the mutation of fat cells which then influences a plethora of bodily systems. Most importantly I should note that the disease causes my immune system to be dramatically suppressed. Not many doctors know about it, so if you're curious, you can check out www.DercumsDisease.com. However, as little as is known of Dercum's Disease, I've been in constant contact with the only three experts on the disease in the world and they've all agreed that they don't think my current problems are in any way related to the Dercum's Disease. A lot of doctors are quick to excuse my current symptoms as a part of Dercum's, but we're all fairly certain they are unrelated.

Okay, current symptoms: the biggest problem right now is that I'm carrying around over 100 pounds of fluid spread throughout my entire body. As the swelling gets worse, more symptoms arise. They are as follows:
- Extreme lethargy
- Intense pain that keeps me completely bedridden
- Easy exhaustion
- Intense heart palpitations
- Shortness of breath and difficulty breathing
- Bizarre fevers: sometimes they're normal, other times it'll literally be as if someone drew a line down the middle of my face, on one side I'll have a fever and my skin will be beat red, while the other side of my face is completely normal and cool.
- Mood swings
- Cognitive Dysfunction, including dramatically impaired short term memory, difficulty concentrating, easily distracted, hard time communicating.
- Erratic periods; about three months after the swelling started my period stopped completely and I didn't have another one until six months later when an OB/GYN prescribed progesterone to jump-start the process. Since then periods have been erratic, spotty, and abnormal.
- Strange lumps appearing around my body, but they cannot be determined as lipomas or tumors of any kind, as they don't really have definable edges and won't really show up on MRIs. The worst, most pronounced lumps are on my left foot - one where my heel and arch meet, the other is on the bottom of my foot kind of at the ball of the feet. Both are extremely painful and impair my ability to walk.
- Weird episodes of decreased or increased bodily functions; i.e. fingernails stop growing for a few weeks and then growth speeds up, body hair stops growing for a few weeks and then growth speeds up, the hair on my head would fall out a bit for a few weeks and then be fine again.
- Sensitivity to light and sound: everything seems brighter and louder than it should be.
- Susceptibility to rhythms, i.e. if I hear music with an intense bass, my heart starts to hurt badly as I can feel my pulse trying to match the rhythm of the music.
- Really, really, really bad joint pain, especially in my hips, knees, and ankles.
- My fingers will sometimes swell so rapidly that I can feel the skin stretching and it can become so painful that I literally can't move my fingers simply because my skin is stretched too tight and it feels like my knuckles are caving in on themselves.
- Difficulty sleeping. I have a hard time falling asleep because of the pain, but then once I am asleep, it's impossible to wake up. No matter how long I sleep, I always wake up feeling so incredibly tired as if I'd been awake for three days straight. I have to literally be dragged out of bed and it can take up to two hours to really wake up all the way.

All of this started in April of 2007 when my left upper arm started to swell. Within a week or two of my arm swelling, a period started where over the course of two months I gained 40 pounds of fluid. The fluid spread to my right upper arm, and then to my thighs and hips. The growth plateaued after those two months, and for another two-to-three month period the swelling only increased by about ten pounds. After that, another two-month period of growth started wherein I gained an additional 40 pounds of fluid. Then it plateaued again, I gained another ten pounds. Since the middle of April of this year, I've started another growth spurt and my weight has skyrocketed up another additional 15 pounds in only a few weeks.
Each time the swelling gets worse, the less I'm able to function. Now I weigh about 265 pounds, whereas before this started I was at a reasonable weight of 145-150 pounds with my Dercum's Disease almost under control. I now find myself confined to bed. The fluid is causing such a strain on my body that I collapse after walking down the hall to go to the bathroom. If I tried to take a shower, I have to use a shower stool and even then, I'm so exhausted by the end of it that I can't even brush my own hair. I have to sit down in a chair and cry while my Mother does it for me.

I'm in absolute agony and I'm just falling apart. I've been to see practically every kind of specialist imaginable - Endocrinology, Gastroenterology, Rheumatology, Lymphatics specialists, Vascular specialists, Nutritionists (who did a complete evaluation of my diet, which they deemed 'stellar'), Physical Therapists, Pain Management docs, Neurologists, Cardiologists, Infectious Disease, and more Internists than you could shake a stick at. My case has been reviewed by Endocrinologists and Internists at the Mayo Clinic, NIH, Johns Hopkins, and various other research hospitals.
No one can find any answers.

Thus far practically all of my tests have come back normal. The only ones that I can remember off the top of my head that were off were cortisol and aldosterone. Apparently during a 24-hour salivary test, my cortisol production was completely backwards - it was high at night, and so low in the morning that it didn't even register. I don't remember exactly what the aldosterone results were, but they were opposite from the cortisol, if I remember right. Other than that, I think everything's been normal but I can provide actual results if necessary.

I just had a barrage of tests done last week, including an EKG, a transesophageal echo, and a regular echo of my heart. The only abnormalities found were a slight case of diastolic dysfunction most likely from the strain of the fluid, and a very, very minor PFO. Other than that, my heart's completely fine, despite being under very serious and considerable strain.

Lots of doctors have questioned whether the additional hundred pounds I'm carrying around is indeed fluid or whether it's fat. The fluid has been visualized on MRI going quite deep into the soft tissue. Also, upon examination, the shift in the fluid is painfully obvious - if my ankles are massaged, you can see the fluid travel up to my knees, and so forth. Plus it's just so obviously swelling - the skin has that shiny quality to it, and I just look swollen all over.
The swelling is literally everywhere. My face, my neck, my hands, my back, my groin, my legs, my feet; everywhere. And it HURTS!

For the Endocrinology work-up I did a complete and exhaustive weight and diet diary. The most the weight ever fluctuated each day was between three to six pounds with no discernible pattern apart from activity - if I was active at all, the weight would skyrocket and the swelling would become particularly bad in my legs, ankles, and feet, with the skin turning beat red. For instance, each time I took a short shower, I would gain at least four pounds of fluid in the process.

Another problem to note - my breasts have become so swollen it's impairing my ability to breathe. The tissue is clearly riddled with fluid, as they weigh in at about 10 to 12 pounds each - if this were fat, it just wouldn't weigh that much. Trying to breathe is so painful and exhausting, as my ribs just can't cope with moving 20-to-24 pounds each time I take a breath.

So that's where I am. I'm confined to bed, I'm exhausted, I'm on a ton of narcotics and even still they only take the edge of the pain. I'm really starting to lose it; I can feel my body falling apart. I'm having a really hard time holding on because everything seems so hopeless. No one can find any answers. I've been on a bunch of different diuretics, none of them worked (in fact, they stopped me from urinating...) I was on a round of amphetamines to evaluate if perhaps I was suffering from Idiopathic Cyclic Edema, but nothing came of it and I was forced to stop the amphetamines due to the heart palpitations.

I'm running out of options. My doctors don't know what to do next. If anyone knows of anything that might help, no matter how insignificant it might seem, you could very well save my life.
Thank you very, very, very much! Please feel free to email me directly if you have any ideas, suggestions, and comments. Thank you!
hlawver AT gmail DOT com

Reply Flag this Discussion

5 Replies:

  • Thank you thank you thank you THANK YOU for replying with so much info!! I'll look into it immediately!Big hugs!Oh, I also realized I left something out of my original synopsis - I already have an intolerance to heat due to the Dercum's Disease (the mutated fat cells generate a great deal of heat, and for some reason cause the body to react the opposite way that it should to heat and cold: i.e. when I'm hot I shiver and stop sweating, when I'm cold I sweat.) But lately the heat intolerance has gotten SO bad that I literally can't leave my air conditioned room that's kept at a constant level of 58 degrees. And even then, I still regularly have intense hot flashes and bizarre fevers (like right now, I'm having one of those half-face fevers. SO weird.) But another thing to note is that the sweating has gotten worse, as have the nightsweats. As if that weren't unladylike and bad enough, the smell of my sweat and my body in general has *completely* changed. I never used to have body odor of any kind, but now, like within 5 hours of showering, I get this weird sour smell. I've changed shampoos, conditioners, soaps, everything, so I know it's definitely me. And it's so overpowering. In all honesty... it smells like death to me. I can't get the smell out of my head and it just smells like decay. Not exactly a pleasant thought... but I figured that might be important from an endocrine perspective, even though I've had endocrinologists from the Mayo Clinic tell me it's nothing endocrine that they're aware of. Which I think is stupid, cause if I mess with my endorphin levels and stuff, my whole body changes. I tested it after I heard about a study where chronic pain patients had dramatic fluctuations in their endorphin production and reception due to long-term narcotic use, so I tested it out myself. That's the *only* thing I've ever noticed have any effect on the swelling at all. If I have some sort of serious endorphin release, I can drop up to about six pounds of fluid in a day.Anyway, thanks again!!! I'm off to look at those sites. If anybody else has anything else to add, please do!!
    HeatherShow 19 Replies Flag this Response
  • Heather, Blaze posts this info to eveyone. I would, frankly, ignore it. You need to see a geneticist *pronto.* There are other genetic conditions that have lymphedema (swelling) and Arnold-Chiari malformations associated with them. I searched the OMIM database for you and found several, but I am *way* in over my head trying to interpret them. It's poosible you may have the wrong diagnosis entirely, or maybe you have Dercum's *and* something else. A geneticist will be able to determine this for you.
    aquila 1263 Replies Flag this Response
  • Heather, Blaze posts this info to eveyone. I would, frankly, ignore it. Yeah, after looking around to return the favor and maybe answer some other peoples' posts in return, I saw that she's been posting that same thing elsewhere. It was honestly really heart breaking... doesn't she realize she's playing into peoples fears and hopes by posting this stuff?That said, I'm still looking into Lyme disease, just because I'm desperate and running out of options. Plus, I do live in the leading county in the US for Lyme Disease - it's in near epidemic proportions where I live. My brother even had it a couple years ago. Plus I've gone through my test results for the past year, and I think I did find one where I tested positive for one out of the many, many different tests for Lyme. I'm not sure what that means, but at least it's something. I'm going to take it in to my Internist this week and see what she says and probably repeat it too, just to be sure. That said, it's a total fluke that anything Blaze said led to anything with me - she's copying and pasting the same stuff into everybody's threads, no matter what they say or what symptoms they present with. She's throwing around hope like she's playing darts. It's horrific, because these are peoples' lives at stake here, and she's playing with what little hope any of us have left. I really hope someone moderating this board can do something about it - you can block her IP address, something. You need to see a geneticist *pronto.* There are other genetic conditions that have lymphedema (swelling) and Arnold-Chiari malformations associated with them. I searched the OMIM database for you and found several, but I am *way* in over my head trying to interpret them. It's poosible you may have the wrong diagnosis entirely, or maybe you have Dercum's *and* something else. A geneticist will be able to determine this for you.Thanks, I'll definitely do that... now how to track down a geneticist... I'm going to talk to my insurance company today and see what I can do about finding one. Thankfully my insurance has been really nice about all this; they've basically given me a blank check and have had no problems paying for anything. If anybody would know how to find a geneticist, they would.Can you tell me the names of any of the genetic things you've found? I know not to take it as a diagnosis or anything serious like that, it's just if you know of anything in particular it would give me a starting point to work from. I'm also going to go google the OMIM database you just mentioned; I've never heard of that before. Yeah, I haven't dismissed the possibility that maybe it isn't Dercum's at all but possibly something else. It's really difficult to diagnose Dercum's as there's no definitive test for it, it's just a process of exclusion. But the more I learn, the more I realize that it's really a shot in the dark. There are so many countless ways the body can go so horribly wrong that it'd be impossible to rule out absolutely everything but Dercum's, know what I mean? The thing is, if it's not traditional, if you don't fit the cookie cutter mold of all the basic well-known disorders/diseases/whatever, then doctors just aren't in a position to care anymore. They don't have the time, they don't have the funds; nothing works. And yet still, I'm so grateful to live where I do, cause I know lots of people in other countries going through similar things and they've met so many more roadblocks than I have. But still, the fact remains that I don't think I have much time left. I hate to sound so dramatic, but there it is. I woke up this morning feeling absolutely horrific. I can't stop shaking, I'm rapidly shifting between feeling burning hot and absolutely freezing, sweating profusely all the while, and my body just hurts so badly. I can't help but think all of this looks remarkably like sepsis from some kind of nasty infection. But the thing is, all the traditional signs of infection - elevated white count and sed rate - never show up on me. I had a raging bone infection as a teenager where the docs literally opened me up and saw the infection eating away at the bone, and yet my white count and sed rate never once went up at all. I'm only 23, this shouldn't be happening. I've been drastically ill for the better part of 12 years, over half my life. And I've never been more sick than I am now. I can't get out of bed anymore. I used to at least be able to go to the bathroom by myself, but when I got up this morning to get to the bathroom, I almost passed out walking out my bedroom door. I don't think my body's gonna hold together much longer, and I just don't think anyone's gonna figure out what's killing me until they can do an autopsy.But I'm gonna keep trying. Cause what else can I do, right?So if anybody else has any ideas, no matter how far fetched they seem, please throw them out. I need anything at this point, anything that might help or at least point me in the right direction.Also, if anyone knows of any specific doctors at any major research hospitals, I could really use the contacts. I've been trying desperately to arrange to have me admitted long-term to either the Mayo, Johns Hopkins, NIH, or Baylor, but they just don't seem willing to admit me even though several specialists have said at this point it's my only hope of getting a diagnosis, is to have long term in-hospital evaluation. It seems protocols are much stricter now, and your primary care doc has to have some kind of plan of what to do next before they'll accept long-term admissions. Which sucks, cause it's precisely because I don't have any idea what to do next that I need to be admitted. It's like living in a horrible Catch 22. At this point all those hospitals have told me that my only hope is finding a specific doctor within the hospitals who's willing to take on the case personally and admit me. So I'm looking for any kind of contacts or anything, anyone who's curious enough to look into this.Thank you so much, everybody!
    HeatherShow 19 Replies Flag this Response
  • Have they tried removing the fluid via paracentiesis (if it is in your abdomen) or via dialysis? I would think that would be a priority - to see what the composition of the fluid is. In addition if you have a lot of increased fluid, it would at least start to relieve some oft he discomfort and pain. It would have to be done fairly slowly (we dont' want shock) but a couple pounds of water weight off every couple days might make you feel better. Were any of your electrolytes off? You said that the adrenal gland was "off" -- the adrenal cortex is responsible for hormones that regulate water intake. It could be a tumor - what type of scans have they done?What diuretics have they tried? If they actually cause an inverse reaction (stop urinating completely) that seems to speak to something wrong within the adrenal cortex. Good luck - please let us know what is going on. I hope everything will be ok.
    Anonymous 42789 Replies Flag this Response
  • Hi Heather... This quote caught my attention: Thus far practically all of my tests have come back normal. The only ones that I can remember off the top of my head that were off were cortisol and aldosterone. Apparently during a 24-hour salivary test, my cortisol production was completely backwards - it was high at night, and so low in the morning that it didn't even register. I don't remember exactly what the aldosterone results were, but they were opposite from the cortisol, if I remember right. Other than that, I think everything's been normal but I can provide actual results if necessary. This means your circadian rhythm pattern is out of sync and that is a strong indication of Cushing's syndrome. Cushing's syndrome is a disorder resulting from chronic exposure to elevated concentrations of free circulating cortisol. It is caused by a (most often) benign tumor in the pituitary or the adrenal glands. The good news is that it is curable. There are many types and VERY hard to diagnose. It is supposed to be a rare disease (ha ha) and most doctors don't even think of it. The few that do, do not know how to diagnose it. This is a good article to start with. It talks about the different types and will give you some general input. There is a great site at www.cushings-help.com. They also have a great forum there that you should post in. They are VERY helpful and you will find great support there. They can also put you in touch with helpful doctors throughout the US. One of the leading doctors in the US (Dr. Friedman) can be found here: http://www.goodhormonehealth.com/ Keep us posted! Kiera
    Anonymous 42789 Replies Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.