A rare disease. A shattered family. A medical team with no answers. Sometimes the worst outcomes fuel the greatest desire for a cure.
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Creutzfeldt–Jakob disease (CJD) is a universally fatal brain disorder. Ninety percent of those diagnosed with this prion disease die within one year. This is one of the most frightening and distressing diseases seen in neurology. Nothing can be done. No treatments to be given. Only massive deterioration of body and mind within weeks.
One week ago, as I finish my neurology rotation, I was tasked with taking care of a man-a successful dentist who was running his own practice-who contracted this disease. At admission, he was conversant, humorous, and able to move all extremities well and equally.
Five days later, his eyes were open, but staring off into space, his right hand flexed stiffly and jerking involuntary, he unable to speak and cognitively barely holding on. These were typical findings in CJD: early symptoms consisting of memory problems, behavioral changes, poor coordination, and visual disturbances. In later stages, dementia, involuntary movements, blindness, weakness, and coma predominate.
I remember when we were on rounds, seeing all patients within several hours, when we arrived at this man. You could cut the tension with a knife. We stepped inside, knowing fully well the prognosis of such a condition, baffled as to how he became infected, lost as to how to help him. I looked at his wife. She was at bedside with tears pouring down her face. I put my hand on her shoulder in support. Silence. I looked down at the man. He was staring to his right, almost foaming at his mouth, entirely unresponsive. I had always made it a point to stay utterly professional on the wards-no laughing, no crying, no weakness. But I found tears streaming down my face. I looked at him in dismay-with no solutions in hand-lost as to how a prion disease could annihilate someone’s brain like this.
When he was initially admitted, we had no idea what was wrong with him. On our differential was autoimmune encephalitis, viral encephalitis, dementia with Lewy Bodies, and metabolic brain disease. But we looked at its acute nature. What could possibly cause such cognitive damage within weeks, let alone days? There was only one answer. We performed a spinal tap, and immediately sent his cerebrospinal fluid to the Cleveland Clinic, a top-rated diagnostic center for this condition. Specifically, we were looking for the results of the RT-QuIC test, which allows for highly sensitive and specific detection of CJD in humans. Several long, daunting days passed, as our patient continued to delve into mental oblivion. Every second mattered. When we finally obtained the results, our fears were confirmed. Positive. This was supported by characteristic findings of generalized periodic sharp waves seen on electro encephalopathy.
Origins of a deadly disease
How is such a disease spread? CJD, also known as transmissible spongiform encephalopathy, is caused by an abnormally folded protein known as a prion. These infectious particles cause normally folded proteins to become misfolded. This process accelerates at an exponential rate. The first person to die from CJD was a man in Manchester, N.H. Massachusetts General Hospital believed the disease was acquired from a surgical instrument at a podiatrist’s office. Seven-and-a-half percent of CJD cases are inherited genetically in an autosomal dominant manner. Exposure to brain or spinal tissue from an infected person may also result in spread. Eating the brain of an animal with prion disease is one of the more common routes of transmission. Contact or blood transfusions does not transmit the pathogen.
So how did our patient get CJD? Our leading hypothesis was that he, as a dentist, was performing a dental operation on an individual with prion disease. Treatments? While pentosan polysulphate, RNA interference, amphotericin B, and doxorubicin have all been investigated as potential therapies, all had little to no concrete evidence.
Our patient-my patient-was going to die. Very, very soon. The wife held on to every possible chance of making him better: asking every question about tests, procedures, and medications that could at least slow the progression of the disease. With each question came the same answer. With each question came a woman, a wife, a mother, losing every ounce of hope she still had. His daughter visited one dark evening, and was not even able to bear the sight of her father. She hid behind her mother, a frightened; anuncertain child with a vague understanding of what was happening. They had another daughter, one in college who one day wants to go to medical school.
On the final day of his life, our attending physician could no longer restrain his sadness. Tears welling up in his eyes, he looked at the wife and told her, “I know there is nothing we can do at this point for him. I know how utterly devastating such a diagnosis is. But I swear to you, I swear to God, throughout our careers as neurologists we will discover how to treat this disease.”
And we will. Perhaps, one day, their daughter-as a physician-will be saving patients with CJD with all that we learn.
Ramin Rajaii received his Bachelor of Science from UCLA and Master of Science from Dartmouth. He is currently an MD/MBA candidate with the intent of pursuing an atypical path: international medical consulting, healthcare management, and technological health innovation.