- Posted June 14, 2014 by
This iReport is part of an assignment:
Living with a rare disease?
Living with Paraneoplastic Cerebellar Degeneration
It all began in mid September 2010. Mom fell in the garage, her speech was getting more slurred, her gait was off, and her hand-eye coordination was deteriorating. As days progressed, symptoms worsened, leading up to a hospitalization after a fall and misdiagnosis of a TIA (small stroke). A follow-up appt. was scheduled with a Neurologist, Dr. Muhammad Farooq, who specializes in vascular and stroke patients.
Mom’s appointment with Dr. Farooq added more questions and diagnostic tests to the mix. Almost immediately upon meeting my Mom and hearing her speech he noted, “I hate to tell you this, but you have not convinced me that you have had a stroke, your speech is not typical stroke speech.” Dr. Farooq was uncertain of exactly what diagnosis to deliver but was indeed certain that her problems were stemming from her cerebellum. Meanwhile, Mom’s symptoms continued to progress to the point where we needed to use a gait belt and hang on to her while she used a walker to keep her from falling. Even with all these precautions, the day after Thanksgiving, my Mom fell while we were walking to another room. She mentioned something about her vision being blurry so off to ER we went again with another hospital admittance.
After a few days in the hospital, another Neurologist, Dr. Deborah Gelinas, examined Mom and quickly came to the conclusion that the news was not good. There were two possibilities for diagnosis, Paraneoplastic Cerebellar Degeneration or Creutzfeldt Jakob Disease, both rare diseases with extremely poor prognosis. Blood labs and spinal fluid were collected and sent off to Mayo Clinic. A few days later my Mom was transferred to the University of Michigan Hospital, where she remained for 3 weeks. A feeding tube was placed in her stomach due to failed swallow studies. The results came back from Mayo, Mom had Paraneoplastic Cerebellar Degeneration with the Anti-Yo antigen. Anti-Yo meant that it was more than likely that the cancer was of gynecological origin (ovarian or breast).
A PET scan and needle biopsy confirmed cancer in her lymph nodes in April 2012 and Mom received 6 months of chemotherapy for breast and ovarian cancer. She has remained cancer free to this date. Honestly, the cancer and the chemotherapy were the easiest part of PCD for Mom to deal with. She wishes that she “ONLY” had cancer and not the PCD along with it. The chemo did its job and killed the cancer. The worst part of this disease to deal with is the irreversible destruction that has been done to my Mom’s cerebellum. The brain cannot regenerate, although it can rewire and relearn to some degree. The damage that has been done though, is devastating. My Mom was perfectly independent before PCD and within a matter of a couple of months became totally disabled and debilitated.
As far as daily life for my Mom, she requires assistance with almost all tasks such as bathing, dressing, transferring into and out of her wheelchair, toileting, feeding her via feeding tube, etc. She passes her time by watching a regular schedule of television shows throughout the day, doing physical therapy and speech exercises in her wheelchair, and the latest thing is practicing using the amazing gait trainer that we purchased a couple of weeks ago (see pic of her standing w/ gait trainer). We believe that this will be the instrument that will allow Mom to eventually walk without having to have a person assisting her. We have a long ways to go before we get to that point though.
Mom has made a great deal of progress from when she first came home and could barely tolerate sitting upright in her reclining wheelchair for 30 minutes at a time. She graduated to a regular wheelchair within a few months and is now able to sit up all day, if she so desires. Although, she does enjoy her daily afternoon bed rest after lunch.
We explain PCD to people by telling them that Mom had a cancer in her body that caused her antibodies to attack the cancer, which is great, but unfortunately the antibodies also mistakenly attacked her cerebellum, which has caused her severe ataxia symptoms (balance, coordination, speech, swallowing, tremors). It is sometimes frustrating to have to explain this to family or friends over and over again when we have already explained it to them before. It seems to be a difficult concept for people to grasp because it doesn’t fit into their usual knowledge of normal diseases. Mom’s PCP actually forgets at times too as he has asked me a couple of times since her PCD diagnosis, “So, she did not have a stroke?”
The most amazing part is that my Mom has maintained an amazingly positive and optimistic attitude though it all. She is determined to walk again and to become independent. So, we do everything we can to try to help her achieve this goal even though the odds are stacked against her.
We are faced with many “what if’s”, like anyone else who has had their life ripped away due to disease and disability. If only she could have received a diagnosis quicker. Yet, it seems nearly impossible when the initial referral to the Neurologist came from her PCP nearly 2 weeks after symptoms began and the 1st possible appointment would have been 2 months away. How can anyone with this rare disease be diagnosed quickly when we live in a world of referrals and waiting lists? If she would have been diagnosed within the first few weeks, IVIG could have been administered quicker which could have stopped the progression and deterioration of her cerebellum, which would have prevented worsening symptoms. Because it is a rare disease, PCD was not even on the radar of possibilities when her symptoms began.