Discussions By Condition: I cannot get a diagnosis.

Debilitating Disorder - Help!

Posted In: I cannot get a diagnosis. 7 Replies
  • Posted By: jadean
  • October 2, 2007
  • 03:46 AM

My wife, 37 years old, struck with sudden debilitating symptoms 5 years ago. Normal CT & MRI. Normal bloodwork. Severe headaches in rear right near base of skull. Vision disturbances, hypersensitivity to foods, allergans, chemicals, etc. Sometimes light, sound, touch oversensitivity. Periods of unresponsiveness/ seizure-like events, near daily now, lasting from 30-120 minutes or sometimes more, after which speech is sometimes difficult/impossible or slurred/wrong words. Events begin with either headache, right hand drawing up, or eyes twitching/fluttering/rolling back in head. Exhaustion and severe weakness - sleep does not produce much increase in energy or ability. Wheelchair bound, poor balance. At times, complains of "not enough air in the room", difficulty getting breath. Uses CPAP at night, and sometimes during events. Week long EEG monitoring revealed no brain injury or epilepsy. Events are also not strokes or TIA's. EMG & long exercise reveal some neuropathy/myopathy. Been to several neurologists, internal medicine, infectious disease, rheumatologist, allergy specialists, and so on... all seem to be stumped by this case. Psych eval - no prior trauma or psych problem evident.

Any ideas? Thinking of going next to a diagnostic internist... Anyone know of a good one or a good facility? Had heard of Bowman Gray (now Wake Forest University Hospital)... but don't know anyone there. Definitely would want a diagnostic internist and NOT a resident....

J. Dean

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  • When was her last MRI and CT?I am no doctor.So I will just offer suggestions and ideas.But I wonder if maybe its something like Parkinsons, Hunington's Disease, CJ (Mad Cow); Lou Gehrigs. It sounds serious; whatever is going on with her. At first I thought TIAs (mini strokes) but you mentioned it could not be that? Are the Drs sure? When she gets really bad and she is slurring her words ask her to make a smile, do both sides of her lip go up? Or does just half her face can make a smile?It seems most of her symptoms you listed (not all, but most) are neuro ones... the seizures you describe sound like what my friend sometimes goes through during her seizures. I suggest looking for a place and specialist reknown for diagnosing neuro problems to rule out or in all the problems(diseases and syndromes) that could cause what she is going through. Have you a great university medical in your area you can try? Ask the other drs you have seen if you think they are good drs just baffled as to who or where they would send their daughter to if she was going through what your wife has? See if multiple drs suggest the same name or names, the same place. Ask the good nurses also because sometimes the nurses know who to go to and who to avoid. I find if the same name and place keeps popping up; it is usually helpful to try it out because the better drs get a good rep.Some folks swear by the Mayo clinic; but some just swear about the Mayo clinic. ;) But people go there from around the world. Where in the world are you at? And how far distance wise in the world can you go if you need to find an expert diagnostician? ----snip-----You wrote:Periods of unresponsiveness/ seizure-like events, near daily now, lasting from 30-120 minutes or sometimes more, after which speech is sometimes difficult/impossible or slurred/wrong words. Events begin with either headache, right hand drawing up, or eyes twitching/fluttering/rolling back in head. ----un-snip----------From the above note it sounds like whatever is going on is getting worse so do get her back in for re-evaluation.Do a search for the top drs in the various specialties like neurology; perhaps you might find a dr there who can help diagnose what is wrong with your wife.Good luck; I hope you find out soon what is wrong with your wife. It sounds very scary.My wife, 37 years old, struck with sudden debilitating symptoms 5 years ago. Normal CT & MRI. Normal bloodwork. Severe headaches in rear right near base of skull. Vision disturbances, hypersensitivity to foods, allergans, chemicals, etc. Sometimes light, sound, touch oversensitivity. Periods of unresponsiveness/ seizure-like events, near daily now, lasting from 30-120 minutes or sometimes more, after which speech is sometimes difficult/impossible or slurred/wrong words. Events begin with either headache, right hand drawing up, or eyes twitching/fluttering/rolling back in head. Exhaustion and severe weakness - sleep does not produce much increase in energy or ability. Wheelchair bound, poor balance. At times, complains of "not enough air in the room", difficulty getting breath. Uses CPAP at night, and sometimes during events. Week long EEG monitoring revealed no brain injury or epilepsy. Events are also not strokes or TIA's. EMG & long exercise reveal some neuropathy/myopathy. Been to several neurologists, internal medicine, infectious disease, rheumatologist, allergy specialists, and so on... all seem to be stumped by this case. Psych eval - no prior trauma or psych problem evident.Any ideas? Thinking of going next to a diagnostic internist... Anyone know of a good one or a good facility? Had heard of Bowman Gray (now Wake Forest University Hospital)... but don't know anyone there. Definitely would want a diagnostic internist and NOT a resident.... J. Dean
    Anonymous 42789 Replies
    • October 3, 2007
    • 00:00 AM
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  • I'd get another CT. Meningioma's are slow-growing and might have been missed initially. Also Lyme can mimic neuro problems. Has she had a neck CT? If the pain is in the back of her head, could she have hurt the upper part of her cervical spine?
    rad-skw 1605 Replies
    • October 3, 2007
    • 08:50 AM
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  • I'd get another CT. Meningioma's are slow-growing and might have been missed initially. Also Lyme can mimic neuro problems. Has she had a neck CT? If the pain is in the back of her head, could she have hurt the upper part of her cervical spine? We have had a CT about a year ago, but only cranial. The only neck scans have been MRI... What is your thinking regarding a neck CT? what would it show that the MRI would not? Interesting you mention a meningioma. That is what her mother had at about this age.... hmmm... Thanks,J.
    jadean 1 Replies
    • October 6, 2007
    • 10:00 PM
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  • Has she been tested for Bartonella,Ehrlichiosis,Babesia & Borrellia?? Please check out these links.""Treatment of nervous system Lyme disease (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology" http://www.neurology.org/cgi/content/abstract/69/1/91 andwww.lymenet.org. Best wishes ~~Dee
    Anonymous 42789 Replies
    • October 8, 2007
    • 10:57 AM
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  • Yes, that is interesting. Maybe a genetic component going on; maybe her condition is related to her mothers condition perhaps?How certain is the moms diagnosis? If it was something else, and the dr gave it the wrong label it could possibly throw a dr off.But the main thing is... did her mother have similar symptoms to hers? Or even if not; mention the diagnosis and the moms symptoms to the dr. The parents health problems are an important part of your wifes medical history in any case.Good luck. Keep us posted on your journey. It sounds like a tough thing to go through; hang in there. Hope things will get better for you both and you find the answers and help you need.We have had a CT about a year ago, but only cranial. The only neck scans have been MRI... What is your thinking regarding a neck CT? what would it show that the MRI would not? Interesting you mention a meningioma. That is what her mother had at about this age.... hmmm... Thanks,J.
    Anonymous 42789 Replies
    • October 11, 2007
    • 01:40 AM
    • 0
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  • Consider asking to be evaluated for Hashimoto's Encephalopathy. Diagnosis is made by positive thyroid ANTIBODY levels. Most patients have normal thyroid hormone levels, including TSH.HE can cause migraine-like headaches, fatigue, seizures, stroke-like epidoses, memory and speech problems that can look like dementia, etc.Only new neurologists seem to know about it. Most other docs haven't heard of it, which is a shame since it rapidly reverses with steroids in most cases if caught early. It took 8 neurologists to get my diagnosis and so I want to spare other people my suffering.Please keep us posted!
    Anonymous 42789 Replies
    • October 13, 2007
    • 00:05 AM
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  • I was thinking of cervical spine injury to C1 or C2 because of the pain. I think I read that hand/wrist flexion was a sign of meningioma.
    rad-skw 1605 Replies
    • October 13, 2007
    • 06:46 AM
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