At wits end

[heygummer]

I have been to many doctors and have had a zillion tests and no one can find what is happening to my body.  It feels to me like it is withering and I have lost what ever in your body lubricates it. I can hold my skin up away from whatever is under it as if I am dehydrated.  My eyes are dried out and hurt.   I have stomach pains and if I lie down for a period of time and then try to get up all my joints pop and crack.  I am experiencing pain down my spine and into my rectum.  I have numbness in my arms and legs and cough up a white foamy phlem.  My gums bleed.  I am frightened that I am going to die and no one seems to be able to help me.  Even my skull in the back seems to be losing its form.  Can anyone help me

[MsFish]

You really need to have someone test you for Sjogren's syndrome.  Have they checked you for that yet?  It is an autoimmune disorder where your body attacks your moisture producing glands.  Common symptoms are dry eyes, dry mouth (which can lead to dental problems) and dry skin.  It also causes joint pain and stiffness.  In addition it can cause inflammation of the lungs, liver, and kidneys.  

I would ask for them to do the necessary blood tests to see if you have it, although not everyone will have a positive test.  IIRC, the tests are anti-ssa, anti-ssb, and they can check your sed rate to check for inflammation.  

Good luck to you!!  

[Bhupinder Kaur, MD]

Hello,

You seem to be having secondary Sjogren’s syndrome. Sjogren's syndrome is an autoimmune disease. Autoimmune diseases are characterized by the abnormal production of extra antibodies in the blood that are directed against various tissues of the body. Sjogren's syndrome that is associated with a connective tissue disease, such as rheumatoid arthritis, systemic lupus erythematosus, or scleroderma, is referred to as secondary Sjogren's syndrome.

All the symptoms that you are having are typical of Sjogren’s syndrome.Diagnosed by schirmer test,anti nuclear antiobodies,ESR,rheumatoid factor and radiologic nuclear medicine salivary scans.There is not a cure for Sjogren’s syndrome,but it is aimed at the various parts of the body that are effected by Sjogren’s syndrome.

Pls consult a physician and get yourself evaluated for this disease.

Hope it helps.Take care and pls do keep me posted if you have any additional queries.

[Jules77733]

Do you ever experience a rash? What medications, if any, are you on?

You might want to look into Thin Basement Membrane Disease (TBMD) and similar diseases of the cellular basement membrane. To me, it it immediately sounded like you have deterioration or damage of the basement membrane of your cells if your skin is no longer feeling as though it has normal structure--which suggests damage to the basement membrane and components, particularly glycoprotein laminin-5 and hemidesmosomes, both of which are integral for "anchoring" properties (you'll see what I mean in a minute).

I think another big one you need to look into is Epidermolysis Bullosa. There are a few more specific sub-diseases associated with this that you should be able to turn up with a google search or a discussion with a specialist (rheumatologist/dermatologist?).

The epidermal "basement membrane" conjoins the dermis and epidermis of your skin, so when it's damaged, you'll notice structural changes in your skin. TBMD can also cause also cause ocular degeneration and abnormalities, as well as renal abnormalities--which might be the cause of your abdominal pain. Don't worry too much, though--TBMD is benign and the big problem with diagnosing someone with this is the consistently normal bloodwork. Oftentimes, the only obvious clue lies within the basement membranes of the glomeruli of the kidneys, something that may be tested with urinalysis. In all likelihood, a kidney biopsy would be needed in order to confirm this disease.

Also look into Alport Syndrome, either as a separate issue or a potential complication, especially with your eye problems--this is a defect with collagen IV production and assembly, and should be diagnosed quickly as it is continual scarring of the kidneys. If you're having ear problems, too, this is another indicator of Alport--perhaps the issues with the "back of your head" can be equated to this. Have a urinalysis done if you haven't already, but be sure they look for blood. That will help determine kidney function and give at least a basic clue as to whether or not you might have Alport Syndrome.

As for the joints and pain down your spine and rectum, this sounds to me like it fits right in with the rest of the puzzle...bone, and even tissues like cartilage, have a lot of similar components--collagen (albeit different types) being one of them. I can see why doctors might get confused and assuming you're having the typical joint aches/pain. What's probably happening is the same thing you're seeing in your eyes: defect in collagen production and arrangement, which is so very important to proper cellular function.

Depending on where your problem is within your skin layers will depend on the particular type of skin disease you have, but I'm fairly certain it's genetic and you can pinpoint the problem now that you have a better idea of where to look or what you should be looking for. I guess you could say I'm confident?

I asked about the rash to rule out Steven Johnson's Syndrome, and medications to rule out medication-induced symptoms/problems.

I hope you get the treatment you deserve and need, and I want you to know that I can really empathize with you on reaching your wit's end and not knowing what's going on after being to a lot of doctors over the course of months (maybe longer for you!). I'll say a prayer that things get better for you and I hope that this helps. If they already thought of all of this, I'm sorry...but I'll check back and see if I can think of anything else, in that case. Keep me posted on what happens!

[Jules77733]

By the way...I should point out that I was trying to think of what you might have that wouldn't be something obvious, especially since you said you had a zillion tests done on you by doctors. I assumed that it was probably pretty likely that you had already been tested for Sjogren's since I hadn't even complained of having a dry mouth and one of my doctor's still tested me for it (results? negative!). I'm not saying it can't be this, or something simpler, or that it definitely IS a defect with your basement membrane protein(s), but given that a lot of what I suggested doesn't show up in bloodwork very easily, and the "pulling" the skin away complaint you had was fairly unique, I wanted to give you some thoughts that could really be worthwhile and might not have been considered, yet.

So I'm sorry if my last post sounded too intense. Good luck figuring out what's going on, either way!