Discussions By Condition: I cannot get a diagnosis.

My mom has been sick since I was 12. We are desperate.

Posted In: I cannot get a diagnosis. 4 Replies
  • Posted By: lizbethrae
  • January 16, 2011
  • 09:54 AM

She has gone without a confirmed diagnosis for nearly 8 years now.

She has had severe bladder pain that was tentatively diagnosed as interstitial cystitis but this is unconfirmed--muscle spasms, burning, frequent urge to empty bladder, sensitivity to foods. She has had episodes of severe edema in her hands, forearms, lower legs, and feet. She has a skin rash on her arms, hands, feet, and abdomen that comes and goes. Her lung function is impaired moreso than would be expected due to her smoking. She is a carrier of Alpha-1 Antitrypsin Deficiency Disorder, genotype MZ. She suffers from severe fatigue and falls asleep often during the day. She had the Parvovirus once and was almost misdiagnosed with Rheumatoid Arthritis. That was 4-5 years ago. She went on Prednisone for awhile but it destroyed the bones in her ankles and she has had surgery on one of them, but now has limited movement in that joint.

She has had a hysterectomy in an attempt to relieve bladder pain and spasming. It did not help. She is currently on a variety of medications--Oxycodone and Vicodin for the pain, Valium for the muscle aches, amphetamines for the fatigue, and about 10 others. Acupuncture alleviated much of the pain and she brought her Vicodin dosage down. Theorized diagnoses are sarcoidosis and lupus but these are unconfirmed. Insurance would not pay for a lung biopsy because one test showed improvement in lung function.

Please. Any answer would make our lives better than they have been for nearly 1/3 of my life.

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  • She has gone without a confirmed diagnosis for nearly 8 years now.She has had severe bladder pain that was tentatively diagnosed as interstitial cystitis but this is unconfirmed--muscle spasms, burning, frequent urge to empty bladder, sensitivity to foods. She has had episodes of severe edema in her hands, forearms, lower legs, and feet. She has a skin rash on her arms, hands, feet, and abdomen that comes and goes. Her lung function is impaired moreso than would be expected due to her smoking. She is a carrier of Alpha-1 Antitrypsin Deficiency Disorder, genotype MZ. She suffers from severe fatigue and falls asleep often during the day. She had the Parvovirus once and was almost misdiagnosed with Rheumatoid Arthritis. That was 4-5 years ago. She went on Prednisone for awhile but it destroyed the bones in her ankles and she has had surgery on one of them, but now has limited movement in that joint. She has had a hysterectomy in an attempt to relieve bladder pain and spasming. It did not help. She is currently on a variety of medications--Oxycodone and Vicodin for the pain, Valium for the muscle aches, amphetamines for the fatigue, and about 10 others. Acupuncture alleviated much of the pain and she brought her Vicodin dosage down. Theorized diagnoses are sarcoidosis and lupus but these are unconfirmed. Insurance would not pay for a lung biopsy because one test showed improvement in lung function.Please. Any answer would make our lives better than they have been for nearly 1/3 of my life.First I want to tell you that your not alone and I truly feel for your situation with your mom. My poor son has had to help me many times and it is so very difficult. Bladder spasms are awful and very painful but it helps to not let your bladder get really full because this then stretches the bladder out which the bladder is a hollow organ but it is a muscle. I have spasms myself that don't go away along with bladder spasms. I did read that if you have a rash and or swelling that you might have a cerebral spinal fluid leak around your brain or even a brain herniation or hydrocephalus which is water on the brain. (my spelling is awful ) 1.) A brain herniation is where brain goes through the dura layers right beneath your skull bones. It should be found on a head CT 2) A spinal fluid leak can be found with a spinal tap. 3) Whenever I see muscle spasms I alway think Brain because it houses the nerves which control your central nervous system. Also the vegus or vagus nerve that runs inside your abdomine can get damaged and if you read on it you'll find that it can cause massive problems that cannot seem to be diagnosed. You can get extreme fatique with spasms because your burning muscle and it takes glucose which is your energy supply. Is she weak or fatiqued because there is a difference. Has she had a stroke? This can precipitate muscle spasms. I am assuming that you've ruled out the heart because it will cause fluid retention. Again, even an xray will show if the heart is enlarged or if the sac around the heart has gotton infected. I know this might not be the answer but it might be something to look at. You sound like a wonderful daughter and Please don't give up. Doctors seem to brush everyone off these days and it makes it so difficult. Oh, the lung function can be deminished due to a Hiatal Hernia which goes up into your diaghram and makes it hard to get a breath. If it is a large Hiatal Hernia it can even press on the Vegus nerve. A stomach endoscope or a barium swallow can detect a hernia. Bless You and keep me posted and I so hope you can find the help you need for your mom. I am still searching myself. Doc's think everything is in your head and it makes it that much more difficult. Good Luck I hate to see anyone suffer.I don't know what the Parvo could later cause but when did she first start getting these symptoms? Always go back to the scene of the accident as they say. It helps because then you can try to connect the dots as to why it began in the first place. Has she seen a neuro and been tested for periprial neuropathy? Also diabetics tend to get this with muscle spasms.
    Anonymous 42789 Replies
    • January 16, 2011
    • 04:27 PM
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  • Has she been tested for Lyme disease? I was barely diagnosed a month ago after 9 years.
    Anonymous 42789 Replies
    • January 17, 2011
    • 09:00 AM
    • 0
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  • She has gone without a confirmed diagnosis for nearly 8 years now.She has had severe bladder pain that was tentatively diagnosed as interstitial cystitis but this is unconfirmed--muscle spasms, burning, frequent urge to empty bladder, sensitivity to foods. She has had episodes of severe edema in her hands, forearms, lower legs, and feet. She has a skin rash on her arms, hands, feet, and abdomen that comes and goes. Her lung function is impaired moreso than would be expected due to her smoking. She is a carrier of Alpha-1 Antitrypsin Deficiency Disorder, genotype MZ. She suffers from severe fatigue and falls asleep often during the day. She had the Parvovirus once and was almost misdiagnosed with Rheumatoid Arthritis. That was 4-5 years ago. She went on Prednisone for awhile but it destroyed the bones in her ankles and she has had surgery on one of them, but now has limited movement in that joint. She has had a hysterectomy in an attempt to relieve bladder pain and spasming. It did not help. She is currently on a variety of medications--Oxycodone and Vicodin for the pain, Valium for the muscle aches, amphetamines for the fatigue, and about 10 others. Acupuncture alleviated much of the pain and she brought her Vicodin dosage down. Theorized diagnoses are sarcoidosis and lupus but these are unconfirmed. Insurance would not pay for a lung biopsy because one test showed improvement in lung function.Please. Any answer would make our lives better than they have been for nearly 1/3 of my life.Has she ever been tested for HLA-B27? Do you know her blood type?
    thefarrellfam 46 Replies
    • February 26, 2011
    • 07:14 AM
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  • Whats her breathing and heartrate like?Specifically which of her lab tests have been abnormal?
    wdiagnosis1 33 Replies
    • February 27, 2011
    • 01:59 AM
    • 0
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