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General Health board

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
[*]Muscle twitches
[*]Constant urge to urinate and difficulty maintaining stream of urine
[*]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
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.

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.

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.”

February 2006
I follow up on the Mayo visit with a visit to a local endocrinologist. She checks my Vitamin D 1,25-Dihydroxy and it comes back normal. My PTH, intact and my serum calcium are normal. My glucose level at 2 hours in to the test is low at 68 in a reference range of 70-140. My TSH comes back low at 0.59 in a reference range of .70 - 6.40. My cortisol is elevated at 25.9 out of a range of 4.0 - 22.0. Free T4 comes back normal. All the insulin tests come back normal. Vitamin D, 25-Hydroxy comes back out of range at 17 in a normal range of 20-100.

To Be Continued...