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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8 Replies:

  • This is not a new story to me. My dad had Cushings disease and went through many of the same things you have been thru. The horrible thing about this disease is that for most people it takes years to get a diagnose, since cortisol swings alot in people with Cushings. The leg weakness is typical for the disease. SO is the back problems. The bulging discs from degenerative disease, the fatigue, mood swings, the sleeping 18 hours a day, concentration problems are all part of it. The pain that you are having in your legs from walking is most likely from low postassium levels (aslo very normal with Cushings). Cushings can be cyclic, making your symptoms swing alot. It can also cause your cortisol levels to be low in the AM when they should be at the highest, and high at midnight (making it hard to sleep during the night) when it should be at it's lowest. Now I am not saying you have cushings, but you do definitly have something hormonal going on. If you visit the forums at www.cushingshelp.com and post your test results there you will get alot of info. They know just about everything there is to know there and not just about cushings! They also have a list of doctors that know how to diagnose cushings and that won't give you a hassle for trying to find out what is going on with your body. I know there is one in LA... Dr. Friedmann. He has a great site as well: http://www.goodhormonehealth.com/ I hope you find help soon, because I know how you feel. I watched my dad go thru ***l for years before finally getting a diagnose.
    Anonymous 42789 Replies Flag this Response
  • Thanks Kiera for the info and concern. My PCP consulted with a 3rd endocrinologist who agreed that although I have high cortisol levels, I DO NOT have anything endocrinologically related. So I'm back to my 4th neurologist for another EMG and NCV test. The shortness of breath is becoming more frequent, and with it, a racing heartbeat. Anxiety is through the roof even though I take 200mg Zoloft and .5mg (at least) Ativan daily. Every day is a struggle and I wish someone could figure this out. I'm only 28!
    sickinLA 5 Replies Flag this Response
  • Hi blaze, I've lived in the city for 11 years, so I don't see how electromagnetism could make me sick after all this time. Also, according to Wikipedia: "Sufferers and their support groups are convinced of a causal relationship with electromagnetic fields, but presently the scientific literature does not support such a link....in 2005 the World Health Organization concluded that there is no known scientific basis for the belief that electromagnetic hypersensitivity is caused by exposure to electromagnetic fields." As a person who does research for a living, I need to see more than anecdotal evidence before I buy into something. Sorry.
    sickinLA 5 Replies Flag this Response
  • Update: 8 months ago I got 5 cortisol shots in my lower lumbar joints and right hip joint and my back and hip pain have completely disappeared! The rest of my symptoms remain. I've been back to the doctor a few times and had many more blood tests. FSH was low (2.5), folate is high (24), HCT is borderline low (37). My ob/gyn discovered (via ultrasound) that my ovaries are full of cysts so she mentioned PCOS but I haven't gotten a definite diagnosis yet, and it doesn't account for my fatigue or leg weakness/pain, night sweats, or anxiety. I've had a CT scan of my torso that was normal. I'm going to my 3rd endocrinologist this month and maybe she'll have an idea what's going on.
    sickinLA 5 Replies Flag this Response
  • Cortisol shots or Cortisone shots? There is a big difference there is why I ask and you mentioned bulging disks. From the symptoms and just from the fact you mentioned bulging disks alot of your symptoms can be caused by a pinched nerve from a herniated disk. Cortisone if that is indeed what you meant would not necessarily help the symptomology but the pain due to inflammation being reduced. Although if that was the case I would be surprised it would have lasted longer than a couple of weeks.
    Anonymous 42789 Replies Flag this Response
  • Ha, oops, I meant cortisone shots. And I had 2 NCV tests that only showed slight nerve damage on my left side, but my pain and weakness were more pronounced on my right side. Now most of my pain is gone but I still have fatigue and muscle aches, and on really bad days my legs still feel weak.
    sickinLA 5 Replies Flag this Response
  • Autoimmune disorder should be considered although CRP and globulin level was ok
    Anonymous 42789 Replies Flag this Response
  • Sed rate, CRP and ANA were all normal/negative.
    sickinLA 5 Replies Flag this Response
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