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    Old 09-03-2004, 03:11 PM   #1
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    Question Undiagnosed disease

    Hello, I am new to these forums and I am desperately seeking help about my symptoms. Over the past 2 and a half months, I have been through h-e double hockey sticks and back. It all really began 8 months ago with a right side pain in my abdomen. Then came constipation which has lasted for 8 months now. During the first six months I would get odd symptoms like extreme weakness, blood in my stool which was hemorrhoids and pain in my abdomen area. I was freaking out thinking I had colon cancer or something similar. I had a barium enema CT scan of the abdomen and nothing came up positive. however at the end of June, the real madness began. It started with muscle twitches all over my entire body for weeks on end non-stop, then came unexplain weight loss (50 pounds since it started.) then I developed floaters in my eyes, then my mouth became smaller, with TMJ similar symptoms. My jaw cracks when I open it all the way and my mouth makes crunchy sounds when I chew, my ears pop everytime I swallow. Then my neck started making crunchy sounds when I turn it. Now, EVERY single joint that I have in my body makes a pop or crunchy sound when I use it. My wrists, ankles, knees, big toes, thumbs, neck, back, hips, shoulders, you name it. I've had a barium enema, EMG, EEG, numerous blood tests for thyroid, diabetes, CBC, WBC, Urinalysis, Cat scans of abdomen, chest X-rays, barium swallow because I have swallowing difficulties. I now have numbness and tingling in my left foot non-stop 24 hours a day. my lower back has a dull pain in it. Somehow this disease is affecting my joints or rather the ligaments and tendons, because they snap and pop every time I move them. I can hardly walk without excruciating pain all over. I have yet to get an MRI done, because it takes months to get one scheduled. I've seen a neurologist, gastreontologist, you name it. I had the Rhumertoric Factor test done, with no results. It doesn't sound like cancer to any doctors, but it is some type of degenerative disease that I can't quite put my finger on. If anyone can lead me in the right direction, it would be greatly appreciated! Also, I don't have a cough reflex or gag reflex now either. Thanks,


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    Old 09-03-2004, 03:34 PM   #2
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    Re: Undiagnosed disease

    Have you had a colonoscopy yet? Imflamatory bowel or Chrohns disease will cause basically the same symptoms in which you are describing. Have they even bothered to check you for it yet? Crohns will impact your joints and mimic arthritis. Honetly you should have a colonoscopy to rule these out as well as colitis.

    It is also completely possible to have both Crohns or IBD and Imflamatory bowel disorder or Colitis. Your body may be being robbed of nutrients as a result of these illnesses which in turn could cause some of the other problems you are having.

    And lastly there are some forms of arthritis, ones that are a bit rarer that may also mimic what you are going through.

    As for lower back pain, if it isn't caused by whatever mysterious illness you have it can be caused by a herniated disk, this in turn will cause your foot numbness. I would suggest you ask whomever is primarily taking care of you to rule this out because if in fact that is the case you could cause permanent damage if left untreated.

    Here's some basic info. I do suggest you look into it more, it could in fact be the cause.

    Ulcerative colitis and Crohn's disease share many common symptoms. These signs and symptoms, which may develop gradually or come on suddenly, include:

    Chronic diarrhea. Inflammation causes cells in the affected areas of your intestine to secrete large amounts of water and salt. Because normal intestinal absorption is impaired, your colon can't absorb this excess fluid, and you develop diarrhea. In addition, your intestines may contract more than normal, which also can contribute to loose stools.
    Abdominal pain and cramping. The walls of your intestines may become inflamed and swollen and eventually may thicken with scar tissue. This blocks the movement of intestinal tract contents through your digestive tract and may cause pain, cramping or vomiting.
    Blood in your stool. Food moving through your digestive tract can cause inflamed tissue to bleed. But your intestines may also bleed on their own. You might notice bright red blood in the toilet bowl or darker blood mixed with your stool. You can also have bleeding you don't see (occult blood).
    Reduced appetite. Sometimes, abdominal pain and cramping and the inflammatory reaction in the wall of your bowel may interfere with your ability or desire to eat.
    Weight loss. You're especially likely to lose weight if your small intestine is inflamed and you're not able to digest or absorb much of what you eat.
    Fever. This sign is common in severe cases of IBD.
    Ulcerative colitis and Crohn's disease also differ in several key respects. Although Crohn's disease often affects the lower part of the small intestine (ileum) or the colon, it can flare up anywhere in the digestive tract from the mouth to the anus. It usually consists of inflammation that may include large ulcers extending deep into the intestinal wall. Inflammation can appear in several places simultaneously, with areas of healthy tissue in between.

    If you have ulcerative colitis, you'll likely have inflammation only in the innermost lining of your colon and rectum. The affected areas will be continuous, with no patches of normal tissue. You may also develop small bleeding ulcers.

    Signs and symptoms of both diseases may range from mild to severe. If you have a mild case of Crohn's disease, you'll likely have some abdominal discomfort and your stools may be loose or more frequent than usual. But if your case is severe, you may have incapacitating abdominal discomfort and you may have bowel movements so frequently that it interrupts your daytime activities and your sleep. You may also experience weight loss, fever and other complications.

    Signs and symptoms of mild ulcerative colitis include an urgent need to move the bowels, even when sleeping, more frequent stools, loose or liquid stools, and blood in your bowel movements. In more severe cases, you may have the signs and symptoms above as well as fever, weight loss, a poor energy level, and other signs outside the gastrointestinal tract, such as arthritis.

    In general, though, the course of IBD varies greatly. You may remain completely without signs and symptoms after the initial one or two episodes of the disease. Or you may have recurrent episodes of abdominal pain, diarrhea, and sometimes fever or bleeding.

    Old 09-03-2004, 05:01 PM   #3
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    Re: Undiagnosed disease

    Thanks for the tips, but I've already been tested for those as well. As far as the arthritis is concerned, it's not really arthritic in essence. My joints don't swell or get redness around them. But they sure do hurt and evey single joint (ligament) snaps and pops. All this in the span of two months :-(

    Old 09-03-2004, 05:22 PM   #4
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    Re: Undiagnosed disease

    Not all forms of arthritis cause swelling, there are well over a hundred types of arthritis, most people are only familiar with a handful. Crohns is actually listed in the Arthritis databse.

    There is one genetic disorder, which I happen to have called Ehlers Danlos Syndrome, it is a genetic connective tissue disorder. In other words you would have to had inherited it from a your parents but it does skip many generations. Most doctors are not even remotely aware of what EDS is when in fact new reports indicated that 1 in 2500 actually suffer from this as opposed to the old thought of 1:5000. Years ago it was 1:20000.

    Most of the individuals who do are actually dx'd with FMS or CFS which ends up being the secondary condition not the primary. There was even a study done back in the id 90's that idicated back then that 80% of the folks with CFS really had EDS.

    At any rate here are some of the basic symptoms. There are several types, 2 of them are fatal in fact, the rest are not but they do cause severe problems including snap crackle pop which is the most common side effect outside of soft velvety skin. So it's food for thought I suppose.

    I was not dx'd until I was around 30 or so prior to that doctors kept telling me I had some rare form of arthritis.

    If you do exhibit some of the skin manifestations such as soft velvety or strectchy skin and problems with healing as well as joints that make a lot of noise there's a chance it could in fact be EDS. It takes an EDS expert or a geneticist to diagnosis it.
    I didn't mention it earlier because I wasn't sure if you were tested for the first two conditions.

    You still didn't indicate if you had a colonoscopy, the only way to test for Colitis and a few other diseases is by a colonoscopy, bariums do not show anything.

    EDS - with permission from the Ehlers Danlos National Foundation

    What is Ehlers-Danlos Syndrome?
    Individuals with EDS have a defect in their connective tissue, the tissue which provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein which acts as a "glue" in the body, adding strength and elasticity to connective tissue.

    Ehlers–Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular(joint) hypermobility, skin extensibility and tissue fragility.There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms.Each type of EDS is a distinct disorder that "runs true"in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.

    Clinical manifestations of EDS are most often joint and skin related and may include:

    Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis.

    Skin: soft velvet–like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).

    Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.

    There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that "runs true" in a family. An individual with Vascular Type EDS will not have a child with Classical Type EDS. more types

    The categorization of the Ehlers-Danlos syndromes began in the late 1960's and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of the Ehlers-Danlos syndrome or between the Ehlers-Danlos syndrome and other phenotypically related conditions... read complete article

    At this time, research statistics of EDS show the prevalence as 1 in 5,000 to 1 in 10,000. It is known to affect both males and females of all racial and ethnic backgrounds.

    Hereditary Patterns
    The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found by following the link below. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children.

    The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types.

    Old 09-03-2004, 05:27 PM   #5
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    Re: Undiagnosed disease

    Types of Ehlers-Danlos Syndrome

    Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Individuals with EDS have a defect in their connective tissue. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs. The fragile skin and unstable joints found in EDS are due to faulty collagen. Collagen is a protein that acts like glue in the body adding strength and elasticity to connective tissue.

    There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.

    Classical (Formerly EDS Types I & II)

    Marked skin hyperextensibility (stretchy) with widened atrophic scars and joint hypermobility are found in the Classical Type of EDS. The skin manifestations range in severity from mild to severe expression. The skin is smooth and velvety with the evidence of tissue fragility and easy bruisability. Examples of tissue extensibility and fragility include hiatal hernia, anal prolapse in childhood and cervical insufficiency. Hernias may be a post-operative complication. Scars are found mostly over pressure points such as the knees, elbows, forehead and chin. Molluscoid pseudo tumors(calcified hematomas) associated with scars are frequently found over pressure points such as the elbows, and spheroids (fat containing cysts) are usually found the on the forearms and shins.

    Complications of joint hypermobility include sprains, dislocations/subluxations and pes planus (flat foot) to name a few. Recurrent joint subluxations are common in the shoulder, patella and temporomandibular joints.Muscle hypotonia and delayed gross motor development may also be evident.

    Clinical Testing - Abnormal electrophoretic mobility of the proa1(V) or proa2(V) chains of collagen type V has been detected in several but not all families with the Classical Type. The Classical Type of EDS is inherited in an autosomal dominant manner.

    Hypermobility (Formally EDS Type III

    Joint hypermobility is the dominant clinical manifestation. Generalized joint hypermobility that affects large (elbows, knees)and small (fingers and toes) joints is evident in the Hypermobility Type. Recurring joint subluxations and dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporomandibular joint dislocate frequently. The skin involvement(hyperextensibility and/or smooth velvety skin) as well as bruising tendencies in the Hypermobility Type are present but variable in severity.

    Chronic joint and limb pain is a common complaint amongst individuals with the Hypermobility Type. Skeletal X-rays are normal. Musculoskeletal pain is early onset, chronic and may be debilitating. The anatomical distribution is wide and tender points can sometimes be elicited.

    To date, no distinctive biochemical collagen finding has been identified by researchers. The Hypermobility Type of EDS is inherited in an autosomal dominant manner.

    Vascular (Formally EDS Type IV)
    This type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin. This is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals.These manifestations include large eyes, thin nose, lobeless ears,short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities.Minor trauma can lead to extensive bruising.

    Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Life expectancy is shortened with a majority of individuals living only into their forties. Pregnancies maybe complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding.

    Joint hypermobility is usually limited to the digits. Tendon and muscle rupture can occur. Talipes equinovarus (clubfoot) is frequently seen at birth. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenousfistula (an opening between an artery and vein), carotid-cavernousfistula; pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingivalrecession and complications during and after surgery (i.e. wounddehiscence).

    The Vascular Type of EDS is caused by structural defects in the proa1(III) chain of collagen type III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A skin biopsy can diagnose this type of EDS.

    Kyphoscoliosis (Formally EDS Type VI)
    Generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth are seen in this type of EDS. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type present with Scoliosis at birth that is progressive. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.

    Tissue fragility including atrophic scars and easy bruising may be seen in the Kyphoscoliosis Type. Spontaneous arterial rupture can occur. Other findings may include: marfanoid habitus (Marfan like features); micro cornea (abnormally small cornea); and radiologically considerable osteopenia (diminished amount of bone tissue).

    Kyphoscoliosis Type EDS is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. Kyphoscoliosis Type can be diagnosed through a urine test.

    Arthrochalasia (Formally EDS Type VII A&B)
    Congenital hip dislocation has been present in all biochemically proven individuals with this type of EDS. Severe generalized joint hypermobility with recurrent subluxations are seen in individuals with this type of EDS. Other manifestations of this type may include:skin hyperextensibility with easy bruising; tissue fragility including atrophic scars; muscle hypotonia; Kyphoscoliosis and radiologically mild osteopenia.

    The Arthrochalasia Type is caused by mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant manner. A skin biopsy can also diagnose this type of EDS.

    Dermatosparaxis (Formally EDS Type VIIC)
    Individuals with Dermatosparaxis Type EDS have severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy.Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias(umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small.

    Dermatosparaxis Type EDS is caused by a deficiency of procollagenI N-terminal peptidase. It is inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS.


    The current EDS type V (X-linked) has been described in a single family. It is a rare variant and the molecular basis of which remains unknown.

    The current EDS type VIII is similar to the Classical Type except that in addition it presents with periodontal friability.This is a rare type of EDS. The existence of this syndrome as an autonomous entity is uncertain.

    The EDS type IX was previously redefined as "Occipital Horn syndrome", an X-linked recessive condition allelic to Menkes syndrome. This was previously removed from the EDS classification.

    The current EDS type X has been described in only one family.

    The EDS type XI termed "Familial Joint Hypermobility syndrome"was previously removed from the EDS classification. Its relationship to the EDS is not yet defined.

    Last edited by Kissa; 09-03-2004 at 05:28 PM.

    Old 09-03-2004, 06:12 PM   #6
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    Re: Undiagnosed disease

    have you also considered gettting tested fro celiacs disease, sounds like you have all of the symptoms..might wanna make a search on stmptoms of celiac disease..i lived all of those symptoms, i should know..go get tested..

    Old 09-03-2004, 09:06 PM   #7
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    Re: Undiagnosed disease

    That was the other one I was thinking of but couldn't recall the name exactly!

    Old 09-06-2004, 04:33 PM   #8
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    Re: Undiagnosed disease

    Hi Troy2Slick, welcome

    I am sorry you have been so sick, I know it is frustrating. I suggest that you consider Lyme disease as a possibility. Lyme is a multi-system bacterial infection caused from the bite of an infected tick. Many people are bitten by ticks without knowing it. Lyme can cause many symptoms and affect people differently.

    When Lyme is a possibility, it is very important to see a knowledgeable doctor. No test is completely reliable. Any doctor who relies solely on test results does not understand the disease. For more information on Lyme disease and its symptoms, see the "Lyme Disease Information" post on the Lyme board at this site.

    Keep searching, you will find out what is wrong.

    Old 09-15-2004, 12:19 AM   #9
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    Re: Undiagnosed disease

    Does anyone else have any ideas? I did a sedimentary rate test and it was 21 and the normal is 13 for my age (26). I did the R Factor and it came back negative. All of my joints hurt so badly. My knees, ankles, upper thigh hurt badly when I walk. I wish I could find a diagnoses! I finally have an appointment to see a Rheumatologist in two weeks, thank god!

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