Desperate For Help

[YoungAndSuffering]

This is going to be an incredibly long post so it’s probably not for the casual reader. I am a 22 year old male and I’ve been sick for four years now. Not one doctor has been able to figure out what is wrong with me. I have seen a Neurologist, a couple of Endocrinologists, a Physiatrist, a Rheumatologist, a Physical Therapist, several internists, several ENT’s, a couple of Gastroenterologists, a Urologist, a Nephrologist, a Cardiovascular Surgeon, a Psychiatrist, a Dermatologist, and a couple of Pain Management Doctors. I have also been to the Mayo Clinic twice and the Scripps Clinic once. If you think you can help me, please review my history carefully. You could literally save my life. Any thoughtful input is appreciated.

Here are the current symptoms:

• Sharp scapular pain on the right side
• Sharp lower back pain
• Chest pain with bouts of faintness and inability to breathe
• Had nasal surgery several months ago and still have not healed
• Recurring tonsil stones
• Nausea, empty pit in stomach that doesn’t feel better with eating, cramping, excessive flatulence
• Weight Loss (2004: 163 lbs 2005: 139 lbs 2006: 135 lbs)
• Inability to gain weight regardless of calorie intake (No eating disorder.)
• Joints popping out of socket
• Rashes on joints, intermittently severe; Raised red bumps with severe itching and burning; Itchy skin
• Hematuria (intermittent); Varied from gross hematuria to microscopic hematuria
• Extreme fatigue
• Sharp, stabbing abdominal pain in upper left quadrant
• Insomnia
• Muscle twitches
• Constant urge to urinate and difficulty maintaining stream of urine
• Shaky
• Night sweats
• Panic attacks

Here is a list of current medications:
Medication Dosage (mg) Frequency

Soma 350mg 3x a day
Hydrocodone 10/500 4x a day
Kadian 30mg 2x a day
Albuterol Metered Dose As needed
Zyrtec-D One pill As needed
Xanax 1mg 1x at night
Provigil 200mg 1x a day
Baclofen 10mg ½-1 / night

And here is the story of how I got to this place:

Summer 2003

At the time, I would have considered myself healthy. I had started to grow out of my asthma that I’ve had since I was two. I was exercising regularly and eating healthy. There were several major stressors that happened at this point. My mother and I moved out of the house that I grew up in and moved across town. I graduated from high school. My serious girlfriend and I went on a trip to California and when I got back, I found out that my mom had had a nervous breakdown while I was gone. That’s when her serious health problems began. At the end of the summer, my girlfriend was going out of state for college. I found out that she had been cheating on me again, and I broke up with her.

Fall 2003

I started college. My eyesight up to this point had been perfect. I had never needed glasses or contacts. In my first semester, I was in a big lecture hall and I started to notice that I couldn’t read the board clearly. Everything was blurry. And then my right knee started to hurt. At first, it was just a small pain but it worsened as the weeks progressed. It got to the point where I could barely stand to have anything touching my knee. I couldn’t sleep at night because I couldn’t even rest my knee on the bed. I saw my primary care doctor and talked to her about it. Her response was to give me Cymbalta. Not only did it not do anything for the pain, but it made me feel even worse. I felt more depressed and completely zoned out. I was referred over to a Rheumatologist. I saw his PA and was given a physical exam. He had no idea what was causing the pain and gave me a prescription for Soma so I could sleep. I saw an Orthopedic Doctor who took an x-ray of that knee and said that everything looked fine. I started to lose weight.

2004

Throughout 2004 I lost more and more weight despite the fact that I was eating constantly. I had started out at 163 lbs and was down to 139 lbs by the end of the year. The pain migrated from my knee to under my right scapula. My knee no longer hurt but the scapular pain grew worse and worse. I also started feeling pain in my lower back.

Spring 2005

In January, my mom gets sick and is hospitalized for four days. During this time, I start to urinate blood. It is not a little bit of blood, it is a toilet bowl full of red. I switched primary care doctors and got referred for many tests. In February, the blood in my urine is measured at 3+ and I am tested for Lyme Disease, which comes back negative.

March 2005

I have a CT Pelvis with and without contrast. The impressions are: 1) Unremarkable appearance and pelvis. 2) No enlarged lymph nodes seen within the pelvis. I also undergo a CT scan of my abdomen. The radiologist who read the film wrote in his report that he suspected I had a Bochdelak hernia that had enveloped a portion of my kidney. There are no other abnormalities detected. I also have an MRI of the upper arm to determine the cause of the scapular pain. There were no marrow or soft tissue abnormalities. No evidence of a rotator cuff tear. The biceps tendon is in normal location with no evidence of tear. No labral tear. I was referred to a Cardiovascular Surgeon to follow up on the possible Bochdelak hernia. He looked at the film and said that he didn’t see anything but he wanted to order a chest x-ray to get a better look.

April 2005

I undergo a PA and Lateral Chest X-Ray. The impressions are: 1) “No confluent infiltrate or pleural effusion or diaphragmatic mass or hernia.” 2) “4mm nodular density in the right upper lobe probably related to pulmonary vascularity end on rather than a nodule. It could reflect a calcified granuloma as it is fairly dense for its size.”

May 2005

My blood work shows a normal electrophoretic pattern. I am also tested for glomerular basement membrance, which comes back negative. I test negative for anti-neutrophil antibodies (ANCA). I test negative for Hepatitis C and B. A urinalysis reveals atypical urothelial cells and “microhematuria with bacteriuria and acute and chronic inflammation.” The comment says “The cytologic findings noted in this 19 year old male may be reactive (related to inflammation and/or infection, or other causes such as bladder trauma, vigorous physical activity, postsurgical trauma, calculus) or secondary to low-grade papillary neoplasm.” At the end of May, I have an MRI of the cervical spine. The results show that I have an unremarkable cervical spine with no marrow lesions. They also show that I have a “minor central bulge C5-6 with minimal thecal sac effacement.” There is no neural impingement. A few days later, I have an MRI of my abdomen with and without contrast. All of the internal organs are unremarkable and no diagnostic abnormality is found.

To Be Continued...

[mommy cat]

It sounds like Chronic Fatigue Immune Dysfunction Syndrome. I have it too. Also known as CFS, Myalgic Encephalomyelitis and post viral fatigue syndrome. check it out...it's a place to start.

I was sick for a long time. The only symptom I didn't have was my joints popping out.

I went for Bioset therapy ( a form of accupressure) and no kidding, my symptoms are almost all resolved.

www.naet.com

www.bioset-institute.com

look into it and get your life back. You will not be disappointed.
I found the advice here in this forum and I went. So glad I did!!

Best to you,
mommy cat

[YoungAndSuffering]

Continued from above...

June 2005
I have a Right Brachial Plexus MRI. The brachial plexus appears normal in course, morphology, and signal. There is no soft tissue mass or adenopathy identified. I am referred to a urologist for the blood in the urine. In the middle of June, I undergo a Cystoscopy. The conclusions are as follows: “Anterior urethra demonstrated no strictures or lesions. Prostatic fossa showed normal configuration of the prostatic lobes. There was no significant hypertrophy. Bladder mucosa is normal and ureteral orifices were in normal position. There was no evidence of tumors, stones, fistuli, foreign bodies, CIS or diverticuli. Bladder did not have significant cellules, trabeculations.” The only abnormal thing detected is “possible mild right hydro” and “significant distention of transverse colon.” My blood is tested for inflammation with a Sed Rate, Westergren, the result is a 1 and the reference range is 0-15. The urologist gives me a referral for an IVP with tomograms. The findings: “Scout radiograph and scout tomogram demonstrate no renal or ureteral calculi. No definite bladder calculi seen. There is a tiny 2 mm calcific focus lying over the left aspect of the bladder. This probably more laterally located in the ureter and probably reflects a small phlebolith.” The overall impression: “Normal IVP without hydronephrosis or hydroureter or persistent filling defect.”

July 2005
I am referred to a Physiatrist who did a physical exam and then had me come back in to do an EMG. He performed the EMG and then within 10 minutes of finishing it, he looked at my mother and me and told us that he believed I was having the onset of FSH Muscular Dystrophy. The EMG showed some latency and “mild myopathic recruitment of the right infraspinatus muscle.”

August 2005
More blood work reveals that my CPK is 84 in a reference range of 30 - 195. My aldolase is 4.1 in a reference range of 1.2 - 7.6. The physiatrist is unable to refer me for the DNA test to rule out MD so I had to go see a Neurologist. He did a physical examination and thought that everything looked fine. He referred the DNA test for Muscular Dystrophy and the blood was sent out. The first time it came back inconclusive so I had to give another sample. It finally came back and was negative. The Neurologist also gave me a referral for an MRI of the brain with and without contrast to make sure that I don’t have MS. The results were negative for MS but showed that I had a large retention cyst in my right maxillary sinus. I also have another PA and Lateral chest x-ray. The findings: “The heart, mediastinum, trachea, and hilar regions are unremarkable. There are no confluent infiltrates or pleural effusions. Nodular density adjacent to the right hilum is most likely vascular. Bones demonstrate no abnormality.”

September 2005
I am referred to a Nephrologist. I get more blood work done. In the renal function panel, the only thing that comes back outside of the reference range is Albumin, which has always been high. I am tested for Hepatitis B again, which comes back negative. I am tested for HIV, which comes back negative. I am tested for Anti-Nuclear Antibodies (ANA), which comes back negative. I am tested for Immunofixation Serum. The M-Spike isn’t present, and I test negative for both heavy and light chains. My red blood cell count and white blood cell count are both normal. My lymphocytes come back high at 47.9 in a reference range of 24-44. I am tested for Vitamin D levels and the result is a 37 out of a reference range of 15-60. At the end of September, I go in for a CT Chest with and without contrast. The results are compared with the chest x-ray in April that shows a granuloma. Findings indicate no mass, no lymphadenopathy, and no effusions. There are no abnormalities.

October 2005
Under the working diagnosis of fibromyalgia, I am referred to physical therapy to try to work through my pain. I undergo physical therapy for several weeks (6+) but feel no better. The physical therapy actually exacerbates the pain. I am also referred to a gastroenterologist to follow up on my diarrhea/constipation. He orders a colonoscopy.

November 2005
I undergo a colonoscopy. The post-operative diagnosis reads as follows: “Normal colonoscopy to the cecum, normal appearing terminal ileum. Terminal ileal and random colon biopsies obtained.” Examination of the entire colon revealed no evidence of any mucosal inflammation, diverticulosis, or polyps. The results of the first biopsy are: “Section shows portions of small bowel mucosa without ulceration or alternation of the mucosal villi. No granulomas or parasites are identified. There is no thickening of surface epithelial basement membranes and no surface exudate is noted. Glands and surfaces are lined by benign epithelial cells. The stroma shows two benign lymphoid nodules with germinal centers. No dysplasia or malignancy is identified. Portions of benign non-inflamed bowel mucosa showing mildly reactive lymphoid tissue.” The results of the second biopsy are: “Multiple random portions of colonic mucosa show no ulceration or crypt abscess formation. No granulomas or parasites are identified. There is no thickening of surface epithelial basement membranes and no surface exudate is noted. Glands and surfaces are lined by benign epithelial cells. The glands show mild increase in intraepithelial lymphocytes and an increase in mitotic activity of mucosal lining cells. There are scattered lymphoid nodules with reactive germinal centers. No neutrophil infiltration of either stroma or glands is noted. There is no dysplasia or malignancy is identified. Multiple portions of benign colonic mucosa showing focally reactive lymphoid tissue.”

December 2005
I have an MRI of the thoracic spine without and with contrast. Findings: “No significant disk herniations. No evidence of spinal stenosis. Disk space and vertebral body heights are well-maintained. Spinal cord is normal. Normal alignment. No enhancing lesions.” Also in December I see my first pain management doctor and I am started on morphine and hydrocodone.

January 2006

After getting nowhere locally, my mother and I decide to head down to the Mayo Clinic in Scottsdale, AZ. There I see an Internist who does a very thorough examination and refers me for several tests, including another EMG. Here are his impressions:

“Complete blood count is normal. B12 and folate levels are also within normal range. Liver, kidney, and electrolyte tests were notable for a slightly low glucose at 68 and a minimally high AST at 51 that is of doubtful significance. Minimally increased INR with otherwise normal total protein and normal bilirubin with a normal PTT. Von Willebrand’s study shows no signs of von Willebrand’s disease. Vitamin D level is notably low at 15 with a normal total serum calcium at 10.1. Random insulin level was slightly high at 19 at the time of a blood sugar of 68. C-peptide levels within normal range.

Autoimmune evaluation shows a normal double-stranded DNA, ENA, CRP, and Lyme disease serologies. Futhermore, serum IgA, IgM, and IgG are within normal range. Whipple’s PCR is negative. Endomysial and transglutaminase antibodies were also negative as well as gliadin antibodies.

X-rays include a normal thoracic spine x-ray. Double contrast stomach x-ray shows no hiatal hernia, fleeting gastroesophageal reflux that is quickly cleared that should be of doubtful significance, otherwise normal appearance of the esophagus, stomach, and small bowel.

EMG of the upper right extremity was normal with no signs of cervical radiculopathy or neuromuscular disease.”

“He is tender over the medial and inferior aspects of the right scapula. There is also paraspinous tenderness along the cervical spine and midthoracic spine. He is also tender to palpation over the trapezius muscles. He also describes this over upper extremity joints laterally; even with light stroking, he describes a hyperesthesia over the back and knees, in particular. Normal straight leg raising, however.”

“The urinary porphyrins came back with very minimal elevation in the coproporphyrin. This pattern can be consistent with a very mild hereditary coproporphyria or variegate phorphyria, but it is thought more likely to just simply represent a benign stimulation of the heme-forming system by stress such as medication or occasionally by alcohol. My suspicion is that he does not have porphyria.”

In the blood work, my prothrombin time was 14.8 seconds with a normal range of 11.7 - 13.6. I tested negative for ENA antibodies. The doctor’s number one impression was hyperesthesias and diffuse myalgias. “I suspect fibromyalgia and visceral hypersensitivity. This is likely exacerbated by an underlying anxiety disorder with a markedly disturbed sleep pattern.”

To Be Continued...

[rad-skw]

The hepatic porphyrias are characterized by acute neurological attacks (seizures, psychosis, extreme back and abdominal pain and an acute polyneuropathy),

As most porphyrias are rare conditions, general hospital labs typically do not have the expertise, technology or staff time to perform porphyria testing. In general, testing involves sending samples of blood, stool and urine to a reference laboratory.[6] All samples to detect porphyrins must be handled properly. Samples should be taken during an acute attack, otherwise a false negative result may occur. Samples must be protected from light and either refrigerated or preserved.[6]

With diabetes possibly.

[Cristella]

Did your rheumy or GP test you for HLA B27 gene? If you have this, it could explain SOME of your symtoms. For eg. Arthritis, fatigue, rashes, eye problems, tummy and urine probs etc. Sounds like you got alot going on, your best bet would be to see a Chronic Fatigue Specialist as they seem to order every test under the sun until they find what's wrong with you.

Goodluck!

[Med Stud]

Signs of Lupus(or other Autoimmune disease)




Antinuclear antibodies,C-reactive protein,Anti-DNA antibodies,CPK and Complement tests should bring some light

[enrique]

too much stuff going on for me to give more than a suggestion. and i am not a doctor, but similarly a patient searching for a diagnosis of vague symptoms similar to yours.

malabsorbtion of some sort can cause all of your symptoms.
my advice is to figure out whats causing the sharp pain in your abdomen and go from there with malabsorbtion in mind.

i suggest metabolic testing for food allergies.
keeping track of what you are eating, and when you feel bad may help you find correllations.

peace be with you
and good luck

[YoungAndSuffering]

The hepatic porphyrias are characterized by acute neurological attacks (seizures, psychosis, extreme back and abdominal pain and an acute polyneuropathy),

As most porphyrias are rare conditions, general hospital labs typically do not have the expertise, technology or staff time to perform porphyria testing. In general, testing involves sending samples of blood, stool and urine to a reference laboratory.[6] All samples to detect porphyrins must be handled properly. Samples should be taken during an acute attack, otherwise a false negative result may occur. Samples must be protected from light and either refrigerated or preserved.

With diabetes possibly.

I've been tested for Porphyria. It was first brought up by the doctor during my first visit to the Mayo Clinic in Scottsdale. The test for Uroporphyrin had a result of 13.8 and the normal range is 3.3 - 29.5. The test for Coproporphyrin had a result of 131.3 and the normal range is 155 or less. The test for Total Porphyrins had a result of 145.1 and the range is 12 - 190.

I can't account for the reliability of the testing. It was performed first at the Mayo Clinic and again locally.

Did your rheumy or GP test you for HLA B27 gene? If you have this, it could explain SOME of your symtoms. For eg. Arthritis, fatigue, rashes, eye problems, tummy and urine probs etc. Sounds like you got alot going on, your best bet would be to see a Chronic Fatigue Specialist as they seem to order every test under the sun until they find what's wrong with you.

Goodluck!

One of the last blood tests I got was for the HLA-B27 antigen and the test came back "Not Detected". That doctor was actually the first in all of these years to bring up that test. But unfortunately it came back negative.

Some of my other symptoms have diminished with my primary concern still being the weight loss and the sharp scapular pain and lower back pain.

I wouldn't even know where to go to find a Chronic Fatigue Specialist. I've had CFS brought up more times than I care to remember (along with fibromyalgia), but rather than being a diagnosis where they keep testing until they find out what is actually wrong, it's more of a diagnosis of giving up. Every doctor to mention it says that there isn't anything else I can do and I just need to learn how to live with it, which I refuse to accept. I wish I could find a doctor, regardless of specialty, that actually cared enough to keep testing.

Signs of Lupus(or other Autoimmune disease)

Antinuclear antibodies,C-reactive protein,Anti-DNA antibodies,CPK and Complement tests should bring some light

I have been tested for Lupus several times. Another of my more recent tests was an Autoimmune Profile, which tested the Antinuclear Antibody, DNA (Double Strand), Anti-SSA, Anti-SSB, Anti-Smith, Anti-RNP, Scleroderma Antibody, and JO-1 Antibody. All came back negative with the conclusion being "The absence of ANA virtually eliminates the possibility of active, untreated systemic lupus and is also strong evidence against other connective tissue diseases."

Another test ordered by my Immunologist was "Profile 284 Complement" which tested my C3 and C4 Complement. The range for C3 is 90 - 180, my result was 106. For C4, the range is 16 - 47, my result was 25. And for Total Complement, the range is 26 - 58, and my result was 39.

My CPK came in at 73 out of a normal range of 30 - 195.

too much stuff going on for me to give more than a suggestion. and i am not a doctor, but similarly a patient searching for a diagnosis of vague symptoms similar to yours.

malabsorbtion of some sort can cause all of your symptoms.
my advice is to figure out whats causing the sharp pain in your abdomen and go from there with malabsorbtion in mind.

i suggest metabolic testing for food allergies.
keeping track of what you are eating, and when you feel bad may help you find correllations.

peace be with you
and good luck

After two endoscopies (with multiple biopsies), a colonoscopy, and multiple stool tests including fecal fat and lactoferin, they've ruled out malabsorbtion entirely. I did recently get tested for food allergies. It turns out I'm allergic to tree nuts, among other things. Which doesn't matter because they didn't play a huge role in my diet anyway. I'm gone from eating organic and completely healthy to the absolute opposite and there seems to be no correlation between my intake and the level of pain. The very sharp abdominal pain is so sporadic that it's hard to monitor it. Thank you for your input and I wish you the best in trying to find a cure for yourself.


It seems like the only tests to ever come back abnormal were my TSH tests. My TSH always came back very low and suppressed, but because my T3 and T4 were well within normal ranges, the doctors were not concerned and thought nothing of it. Later on, another test would show that I had normal TSH but that my T3 was elevated. Who knows?


I want to thank you all from the bottom of my heart for replying. I've hit a stage where the doctors are done with me. Every single one says that I've had "every possible test imaginable" run on me. I've had the "cadillac of work-ups." More disconcerting (though slightly amusing) than that is that they all seem to bring up the TV show "House." They say things like "What you need is a doctor like on that show House". But I digress. I wanted to sincerely thank you for any input you've given me and any input you may provide in the future. Any help is greatly appreciated.

[e33]

I would have my thyroid biopsied.

[Dxd]

An abnormally low TSH could mean you have a tumor in your pituitary, gland or other places. You need to have this explored.

Central hypothyroidism

Author
Douglas S Ross, MD
Section Editor
David S Cooper, MD
Deputy Editor
Kathryn A Martin, MD

Last literature review version 16.2: May 2008 *|* This topic last updated: January 24, 2007 * (More)

INTRODUCTION*—*The overwhelming majority of patients who have hypothyroidism have thyroid disease (primary hypothyroidism). Central hypothyroidism refers to thyroid hormone deficiency due to a disorder of the pituitary, hypothalamus, or hypothalamic-pituitary portal circulation. Pituitary thyrotropin (TSH) production is regulated in part by the hypothalamic thyrotropin-releasing hormone (TRH). TRH is released into portal blood vessels and transported to the anterior pituitary gland where it regulates the synthesis, glycosylation, and release of TSH. (See "Thyroid hormone synthesis and physiology").

RECOGNITION*—*With use of the serum TSH assay as an initial screening test for thyroid disease, the diagnosis of central hypothyroidism can be missed or delayed because most patients have normal or slightly low serum TSH concentrations. For this reason, some experts suggest measuring both serum free thyroxine (T4) and TSH for screening, while others emphasize the need to measure serum free T4 when the patient's symptoms suggest hypothyroidism or hypopituitarism despite a normal serum TSH value. The majority of patients with central hypothyroidism have coexisting deficiencies in other pituitary hormones. Thus, the coexistence of fatigue, cold intolerance, and amenorrhea in a young woman warrants measurement of both serum free T4 and TSH to screen for hypothyroidism.
One study suggests that central hypothyroidism may be masked by growth hormone deficiency. In 84 patients with growth hormone deficiency who were starting growth hormone therapy, 30 (36 percent) subsequently required T4 therapy because of reduced serum T4 concentrations [1] .

ETIOLOGY*—*The causes of central hypothyroidism are the same as the causes of hypopituitarism (show table 1) [2] . (See "Causes of hypopituitarism"). Pituitary mass lesions, especially pituitary adenomas, are the most common cause of central hypothyroidism [3] . Pituitary adenomas can cause hypothyroidism by compression of pituitary thyrotrophs, interruption of the hypothalamic-pituitary portal blood flow, or rarely by acute hemorrhage or infarction resulting in pituitary apoplexy [2] . In addition, surgery or radiation therapy for pituitary adenomas or other mass lesions can cause central hypothyroidism.

Other mass lesions include cysts and abscesses, meningiomas and dysgerminomas, pituitary adenocarcinomas and metastatic tumors. Craniopharyngiomas may enter the sella or remain suprasellar.


Or you could have plain old ordinary hyperthyroidism.

For more info on thyroid disease:

http://www.freewebs.com/thyroid