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

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