Discussions By Condition: I cannot get a diagnosis.

Undiagnosed autoimmune disease

Posted In: I cannot get a diagnosis. 9 Replies
  • Posted By: senquizl
  • December 26, 2007
  • 09:24 PM

My mother has an undiagnosed disease that caused her to become completely paralysed within a six month period. Everything started in August of 2007 with a tingling in two fingers and one toe. Within days she started to experience a inching and burning sensations in her hands and feet. By Thanksgiving she was forced to use a walker due to sever weekness in her legs and by Christmas she was wheelchair bound and could no longer urinate. She also had a tight band like feeling around her chest. By January 2006 she had lost the use of everything by her right hand.

Up until that point she had been dealing with local doctors and was getting no answers so we took her to the Mayo Clinic. They admitted her for five days and ran a multitude of tests including, lumbar puncture, mulitple MRI's, 24 hour urinalysis, spinal cath, and genentic testing. Everything came back negitive while we were in the hospital except for the genetic tests which would take two weeks. Mom was sent to a rehab facility while she waited on the results of the genetic testing. During her time at rehab(two weeks) she lost the use of her right hand and was paralysed from the neck down. We returned to Mayo in mid Feb. to get the results on the genetic testing and found that they were negitive. However, at this time, Mayo told us that one blood test that they had run did come back with a elevated antibody titer so they agreed to admit Mom back into the hospital and try Plasma Exchange treatments to see if they helped her improve. We saw a small improvement from the Plasma exchange but really just seemed to slow the disease process for about a month. When my mom started to deteriorate again(april 2006) Mayo admitted her again and did five rounds of IvIg. This also seemed to slow the disease process but offered no improvement.

I brought my Dad and Mom to live me me and my family in Atlanta in May of 2006 because my father was no longer able to take care of my mom on his own. By then Mayo had told us that they did not know what mom had but they did beleive it was terminal so they diagnosed her with ALS. Dad and I took mom to see a Nuerologist at Emory that specialized in ALS as soon as they got to Atlanta. He admitted her to the hospital for evaluation and through a physical exam quickly diagnosed her with peripheral nervous system vasculitis. He started her on Cytoxan and heavy dose steroids that same day but followed up three days later with a nerve and muscle biopsy(something mayo had not done). We noticed a immediate improvement with this treatment. When mom got to emory she had completely lost her voice volumn and was unable to swallow anything with a consistancy greater than yogart. That changed overnight after her first Cytoxan treatment. The Nerve and muscle biopsy eventually came back negitive but by then it was obvious that Mom was responding well to the treatment so nothing was changed in the treatment plan. Mom received monthly Cytoxan treatments for six months while slowly weening off the steroids. By Nov 2006, after her last Cytoxan treatment, mom was able to feed herself again and could even move her legs some. Mom was placed on Imuran after her last Cytoxan treatment. Dad and Mom made the decision to move back to their house in Dec 2006. With the help of inhouse therapy, Mom continued to improve and could even stand for a few seconds with assistance by June of 2007.

Unfortunately she started to decline again in August 2007. Not as rapidly as she had at first but she stopped improving and began to lose some function in her legs and arms. Because my mom wanted a Nuerologist closer to their home(leesburg Fl.) we decided to take her to Shands in Gainsville. Her appointment was on Dec. 3rd 2007. She was evaluated by the head of Nuerology in hte clinic. He ran an emg test and confirmed that Emorys diagnosis of PNS vasulities was incorrect so he admitted her to the hospital for evaluation. On Dec. 4th mom was invited to be the guest patient at Grand Rounds. There she was able to discuss her case with all the medical students, Nuerologists, Residents and Professors of Nuerology at the University of Florida. Unfortunately none of them could come up with a diagnosis either and Shands actually beleives that Mom may have a disease that has not been discovered yet. However, they did decide to repeat the Cytoxan treatments to see if it put mom back on the road to recovery like before. She recieved her first treatment on Dec. 7th Unfortunately she immediately developed an infection and has spent the last week in the hospital on Iv antibiotics. He white count was less than 500 when she was admitted. She also had to recieved a blood transfusion because her hemoglobin went down to 8.

Having said all that, I am interested in any advise anyone can give me as to next steps. One thing I am concerned about is that Shands left my mom on imuran when they started the Cytoxin. Everything I have read seems to indicate that a person should not be on Cytoxan and Imuran at the same time. I have a call into Shands to confirm that this was not an oversite but am having trouble getting anyone due to the holidays

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9 Replies:

  • Did your mom live on a farm and have exposure to insecticides or butchering? Have they tested for chronic inflammatory demyelinating polyneuropathy?
    rad-skw 1605 Replies
    • December 27, 2007
    • 01:07 PM
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  • She lived on a farm until she was 6 years old. The disease started when she was 66. She has been tested for CIDP. In fact, doctors have confirmed that her disease is not causing any demylinating. One thing that really seems to baffle the doctors is that the emg tests indicate that the disease seems to be impacting both the spinal cord(central nervous system) and the peripheral nervous system. Her brain is not imapcted at all. The doctors that we have seem are unaware of any disease that impacts both.
    senquizl 3 Replies
    • December 27, 2007
    • 02:24 PM
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  • Her disease is know- it is very well known.It would take me like 5 minutes to look into her kitchen and I'll be able to tell you why she is sick.Limb weakness or 'disconnection' , the urinary problem, and the tightnesss in the chest or throat all point at advanced pancreatitis.Has she been acting anxious for a while?Do you know if her hands get cold and her fingers are bluish? Does she have bad hair days? Dry hair or bad skin?Take her to an Acupuncturist as soon as you can. Someone who specialices and is certified and with good credentials.If I were you I would ask for no needles on the belly- to start with the feet and leg points.It hurts me to know that people go blindly into x or y doctor, and rarely ever explore other options. The tv brainwash is so powerful that you are going to think that my recommendations are totally unsound.Well, regardless, cut all refined sugar, splenda, sweet n low, processed food, iodized salt, and processed oils such as corn oil from your mom's diet. She should also avoid milk, cheese, and yogurt for now.Go to naet.com and look for a professional that can see your mom.I wish you best- this situation can be reversed to some degree- I am pretty sure.Those drugs are killing her pancreas- hence she developed an infection. The pancreas forms the blood- the immune system. Her liver is also in bad shape- she has problems with her malic acid and gluthatione production.Sincerely,Mar.
    Eatafruit78 960 Replies
    • December 28, 2007
    • 03:28 AM
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  • MS could be an answer. It does explain the urinary problems and it is usually triggered by an autoimmune disease. MRIs don't always show signs of MS and it is hard to test for. The disease has different progressions and it does tend to get slightly better then get even worse.~Hope this is solved for you and your family~
    meatloafpotatoe 1 Replies
    • December 28, 2007
    • 06:29 AM
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  • Hopefully you have already been in touch with the team treating your mother and have a specific response to your Cytoxan/Imuran question. I was curious about your question and looked up interactions/contraindications for both drugs on MICROMEDEX. I want to state definitively that without knowing anything your mother's condition or treatment protocol, I certainly cannot comment on the therapeutic decisions of other providers. I really just wanted to report to you that I did find a contraindication for Azathioprine (Imuran) use in patients with history of treatment with alkylating agents. Cyclophosphamide (Cytoxan) is a nitrogen mustard class alklating agent. That being said, your vigilance in raising these issues with the treatment team is definitely the best way to get a good explanation of the medication decisions being made. Take care.
    fewd4thought 126 Replies
    • December 28, 2007
    • 07:26 AM
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  • You said your mums illness began at 66-did she had any flu vaccination prior to this illness?was you mom a heavy user of aspartame-diet coke,fake sweeteners etc?Did your mom have a 24 hour heavy metal screen?Vitamin b12 deficiency-1 think checked by homocysteine levels?AdrenoleukodystrophyBalo's concentric sclerosisIntercostal neuralgiaTransverse myelitisCould there be a spinal lesion the mri's not picking up on?
    Anonymous 42789 Replies
    • December 28, 2007
    • 03:13 PM
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  • Have they tested her for multiple sclerosis? The neuropathy of her extremities and bladder and the "tight band" feeling around her chest are signs/symptoms of MS.
    Anonymous 42789 Replies
    • October 27, 2010
    • 02:00 AM
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  • my "undiagnosed symptoms" auto-immune / MS, etc are spreading everyday, for almost 1 year. the numbness spreads up my legs and arms, up and down my back/chest. i am beginning to lose balance / positional coordination of legs/feet. some twitching/spasm in face. swallowing is effected - mildly at this point.only taking dexymethasone (steroid) - not stopping the lose of function / spreading of disease.any comments?
    Anonymous 42789 Replies Flag this Response
  • my "undiagnosed symptoms" auto-immune / MS, etc are spreading everyday, for almost 1 year. the numbness spreads up my legs and arms, up and down my back/chest. i am beginning to lose balance / positional coordination of legs/feet. some twitching/spasm in face. swallowing is effected - mildly at this point.only taking dexymethasone (steroid) - not stopping the lose of function / spreading of disease.any comments?Dear Unregistered,Life is a journey. May God bless you.I don't have any definitive answers to your symptoms as far as the origin of them and the duration of such. I am not a doctor, I am a patient who is friend of very many patients :D. Some of my friends have suffer with similar auto immune flares of symptoms. They always linger but there are periods in which the symptoms fade to a minimum.Your healing has to be tailored to your needs. No one can tell you what your real needs by simply answering to your online post. I have some ideas that my friends and I have shared for some time.*There is a website: beyondhealth.com. It's not about selling pills. The owner is a real MIT trained scientists. He was sick and numb back a few decades ago. I read his book and remained open minded. It helps alot.*There is also NAET and Bioset. These are alternative therapies. I have used NAET. One of my sickest friends became a lot more healthy now and she graduated as a Bioset practitioner. *I would also recommend you a good certified and licensed Doctor of Oriental Medicine. They don't go by insurance and they support your main head doctor. They don't rush you through your consultations. Talking to them should be very relaxing. They want to listen to EVERY single symptom, even if it looks 'unrelated'. If you don't like needles too much, they can at least prescribe herbs. All of it is a legal and real practice. Try to get references and stuff.*Other recommendations: prayer, good food, love, fun, comedy, trying something new, finding patient friends.I send you a big hug,Take care.Fruity.
    Eatafruit78 960 Replies Flag this Response
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