Discussions By Condition: I cannot get a diagnosis.

Sick and frustrated

Posted In: I cannot get a diagnosis. 8 Replies
  • Posted By: sickinLA
  • March 4, 2009
  • 08:46 PM

I've been sick for 2 years now and will condense this story as much as possible. My main issues are leg weakness, fatigue, night sweats, trouble concentrating, poor short-term memory, periodic shortness of breath (at rest), multiple "dizzy" spells that last for 1 or 2 seconds, anxiety, and loss of libido/ability to orgasm.

I started having horrible back pain around March of '07. Had an MRI in August '07 that showed 2 bulging discs; L4-L5 and L5-S1. Went to PT for two months, and my back started to feel better, but then my weakness became apparent. My physical therapist said I had the weakest legs she'd seen, and sent me back to my doc for an eval. He agreed with her, saying the weakness was abnormal, and in fact global. I also mentioned that I was very fatigued, been having horrible night sweats, and could no longer have an orgasm (NEVER had a problem with that)

Had a blood draw in October '07 - CBC, A-CMP, TSH, Sed Rate, CK, CRP - all normal. Went to 1st Neurologist in November '07 and had an EMG and NCV tests; both normal. I kept doing my PT exercises, and I did notice some improvement. My legs were still weak, but manageable.

Had another blood draw in March '08 - DHEA Sulfate, Fasting Insulin and ANA were all normal. Serum Cortisol was high - 32.9 with a reference range of 4.3 - 22.4. Did a 24-hour Urine Free Cortisol and it was normal - 3ug/L (no reference) and 6ug/24 (reference range of 0-50).

Went to 1st Endocrinologist and had more blood tests in May '08. Serum cortisol was normal - 16.5, but ACTH was undetectably low <5 with a reference range of 10-60. 17-OH Progesterone was borderline low - 22 with a reference range of 20-290 in luteal phase and 3-100 in follicular phase (not sure what phase I was in). Normal Pregnenolone and Insulin-Like Growth Factor.

ACTH stim in July '08. Results as follows:
Baseline (11:30AM): Serum Cortisol - 21.3 (High), ACTH <5 (Low), 17-OH Progesterone - 24 (borderline low), 17-OH Pregnenolone - 17 (Low)
30 Minutes (12:00PM): Serum Cortisol - 34.7, 17-OH Progesterone - 92, 17-OH Pregnenolone - 857
60 Minutes (12:30PM): Serum Cortisol - 41.3, 17-OH Progesterone - 109, 17-OH Pregnenolone - 598

Urinary Free Cortisol the next week. 26ug/L (no reference) and 47ug/24hours (reference of 0-50). Doc diagnosed me with Congenital Adrenal Hyperplasia due to a 21 Hydroxylase Deficiency. He said that wouldn't account for my weakness or fatigue.

In August of '08 I declined dramatically. Had horrible leg weakness with buckling knees and shaking quads. Needed to sleep about 16-18 hours a day, and couldn't stay awake for more than 3 hours at a time. Legs are also starting to hurt whenever I walk. I've been diagnosed with depression in the past, and am currently on Zoloft which has worked great. This was not depression sleepiness, and I still had the desire to do the things I used to, and be social, but my body wasn't able.

2nd Neuro. MRI of spine and brain in September '08. Brain is normal. Bulging in L4-L5 and L5-S1 has worsened. Rules out MS and Myasthenia Gravis.

More blood tests in January '09 - CBC, A-CMP, Testosterone - free and serum, Sed Rate, B12 - all normal. Serum Cortisol still elevated - 25.1 (at 11AM). Another Urinary Free Cortisol. 8ug/L (no reference) and 14ug/24hours (0-50). Second Endo says that there's nothing endocrinologically going on.

Throughout this whole process I've had worsening anxiety and have lost about 12-15 pounds (I'm 5'7" and 125). I've had 5 doctors tell me that there's clearly something wrong with me, but they have no idea what, or where to go from here. If anyone could shed some light on my situation I would be grateful.

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