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