I would like to share with you who my mom was as a person, our family history, and my experience with my mom’s battle with familial CJD, and her subsequent death. This is truly ‘Our Story’ for I know you will find similarities to your own experience. Remember that we are not alone but … IN THIS TOGETHER.
My mom was a vibrant, intelligent businesswoman, mother to nine children, and wife of 44 years. In her retirement, she loved working part time as a school crossing guard. She was strong willed, had a great deal of energy and, prior to the onset of symptoms, she was walking six miles a day. My mom was very caring and helpful to everyone in the community. Her faith and her family were her life.
My mom and dad were just beginning their retirement travels. I was enjoying mom not just as ‘mother to daughter’ but as ‘mother to mother’ as well as ‘friend to friend’. Then in one moment it all changed, and in a matter of months, it was all taken away.
My mom did not talk often of the disease that took her father and brother’s life. All I really knew was that my uncle and grandfather died of the same illness at an early age. It never registered with me that it was a familial illness and that my mom may have been susceptible to that same fate. I have since learned that ten family members (including my mom) have died from familial CJD spanning four generations.
One spring day during my mom’s six mile walk, a dog attacked her from behind. She fell to the pavement and suffered a severe blow to the head and fractured a vertebra in her spine.
Two weeks after this accident my mom experienced vision problems that soon turned to double vision leaving her unable to drive. She was then treated for a nerve palsy of the eye that the doctor felt was a result of her fall.
I live two hours from my parent’s home so I called and checked on mom every week. Each time I spoke with her she would tell me her vision was not improving. The doctors were trying patches, stronger lenses, etc. After three weeks, I requested that my mom’s records be sent to me, and I had them reviewed by another physician. The physician concurred with the diagnosis and indicated it may take from six weeks to three months before she was completely better.
I called my sister to let her know that the physician here concurred with the findings. She then wanted to know what I thought of her ‘other’ symptoms. I was not aware of ‘other’ symptoms – mom never shared those with me. My sister then informed me that mom was unsteady on her feet and stumbled frequently. My mom never drank a day in her life however, her gait was such that it appeared as if she were drunk. She was also experiencing mild dementia. My sister told me about the family illness and indicated that mom did not want to discuss it with her physician. Mom felt her physician would only focus on the disease and leave her to die.
I immediately called my mom and told her she needed to see a neurologist. I told her that, based on some of the other symptoms, she might be having small strokes and that she needed medical attention. I also asked her if she told her physician about the ‘family illness’ and she said ‘No’. I strongly suggested that she share that information with her physician.
She returned to her primary care physician and they immediately sent her for a MRI. The MRI was negative, and they were arranging an appointment with a neurologist. Mom still would not tell her physician about the ‘family illness. I decided to go home.
This is the point where it all started for me. My dad and some of my siblings had been watching this happen to mom for six weeks. I was not prepared for what I saw when I arrived. The independent, self-sufficient, energetic mother I knew was no longer there. I saw before me a woman who required a walker, was extremely tired, and could barely tie her own shoes. She had a strange stare, almost like she could not focus on anything or like she was looking right through you (supra-nuclear gaze palsy). She was also having ‘tremors’ or ‘jerky’ movements of her hands, arms, and legs (myoclonus). Her dementia was such that she could not remember certain dates, the president’s name, simple math equations, or even the order in which her brothers and sisters were born.
I went with my parents to the neurologist. I told my mom that I was going to tell the neurologist about the ‘family illness’ (I did not even know the true name of the disease at this point) but assured her that I would make sure they tested for everything.
Following her exam and the knowledge of our family history with CJD, my mom was admitted to the hospital for testing. Testing was performed to rule-out toxins, multiple sclerosis, VDRL and other treatable diseases/disorders. In addition, prion testing for CJD as well as DNA testing for Huntington’s disease and Machado-Joseph’s disease were performed. Meanwhile, my mom’s condition continued to deteriorate. All tests for treatable illnesses were negative. The EEG only showed mild to moderate dysrhythmia and the spinal fluid showed a slight increase in protein. She was discharged the next day to await the prion and DNA test results.
I am not going to spend much time discussing the issues we had with the neurologist that cared for my mom. I will summarize by saying that there was:
- Lack of communication of differential diagnosis or prognosis
- Lack of medical attention for a patient with a rapidly progressive disease
- Lack of communication regarding possible treatment options or lack thereof
- Lack of support for a dying patient and the family
- Inability to recognize personal medical limitations in diagnosing and treating a rare disorder
- Crass, egotistical behavior
- Violation of my mom’s patient rights
There is certainly a great lack of knowledge regarding this rare disease. Physicians/Clinicians can not seem to fathom the possibility of someone having CJD. My only hope is that the information contained in this web site will bring awareness to clinicians as well as families who may be affected by CJD.
In light of my mom’s family medical history, supported by review of pertinent literature on the topic of CJD, it was my feeling that my mom was dying from this disease. Due to the issues with the neurologist, I told my family and my mom that she was dying from the same illness that took her father and brother … one of the most difficult times of my life. Before mom progressed too far into the disease process (two days after returning from the hospital) my brother and I discussed with her the inevitable outcome of the disease. Fortunately, mom had a living will already established so we only needed to review it. Mom was a very detailed person, and everything had it’s time and place. Knowing this about her, we discussed her funeral and, with God at her side, she calmly planned her funeral with us over the next four days.
As the disease progressed mom’s ataxia (unsteady gait/walking) worsened making ambulating even with a walker difficult. Her dementia had advanced to the point that she had difficulty recognizing her own family members. Her speech was slurred such that she was sometimes unintelligible. She progressed to being wheelchair bound and required complete assistance with activities of daily living.
We opted to keep mom at home, and we arranged for Hospice care. We all took shifts and helped with her care. We laughed, cried, shared stories, and prayed together. It was so unreal and left us feeling numb, yet we watched and felt totally helpless. We did what we could to keep her comfortable. The progression was so quick that we would make a decision one-day, and before we could implement the change, she had progressed to another level. She fell on May 4, 1998, slipped into a semi-coma on August 5, 1998 and found eternal peace on August 9, 1998 at the young age of 64. The neurologist called my parent’s home on August 12, 1998 and wondered when I was going to bring my mom in for physical therapy. I informed him that we just buried my mom and that we were waiting for the results of the CJD gene test that he failed to order. Her gene test came back positive for CJD in September of 1998 … I slept that night.
Watching my mom’s deterioration and her death has been the most painful experience of my life. I lost my mom and she took with her a part of my soul … a part of my being. A spouse may eventually be replaced with a companion but a parent is someone you can never replace. There is a hole in my soul that I don’t believe will ever be filled. On the other hand, this experience has also been the most spiritual event of my life. I never felt closer to God than I did the days prior to mom’s death. I can not explain it in words. All I can say is that I truly believe mom is living eternal life surrounded by God’s love. Mom also left me many gifts … I returned to the church; I grew spiritually; I grew personally; and I established bonds with my family that I never knew could exist. Those gifts are what I rely on everyday to heal the pain and loss I feel.
I became a nurse to help others and because my mom always wanted a nurse in the family. I now know that I became a nurse because it was the path God had set before me. I needed that knowledge to help care for my mom and now I can use my healthcare knowledge and my personal experience with CJD to somehow make a difference by helping others afflicted with CJD and the families left behind.
This disease is considered rare – but for those affected by its devastating course, how ‘rare’ is a mother, wife, father, husband, sister, brother, aunt, uncle, grandfather, grandmother, or a friend.
I would like to express my deepest gratitude to the many friends and family who loved and supported mom and our family during her illness and subsequent death.
To my dear friend Deb whose friendship and generous spirit have touched me more than she can possibly know; for caring for my mom through the most dismal moments of her life with a gentle, witty, and willing nature that enabled mom to be as she was, without apology or explanation.
To Hospice, especially Jo, Ron, and Cheri whose intensity of purpose, and dedication and love for their work made my mom’s birth into eternal life one of comfort and peace; for giving to my mom and my family more than they received; for teaching me about what it means to transcend scarcity with excellence — Thank you!
I would like to dedicate this Web Site to my mom (I wish she were here), all those that have died from CJD, and the families left behind.
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