Jane Smith Case

The patients name today is Jane Smith, as seen in figure 1. Jane is a 36-year-old waitress who currently has both anemia and asthma. Patient has a sister and a brother who suffer from PTSD and Asthma respectively. Jane has come in after waiting out her symptoms for two weeks, due to her mother’s funeral and a busy work schedule. Symptoms include; excessive sweating, hallucinations, insomnia, and tremors, which are all affecting her working ability. Her mother’s family has medical history of Fatal Familial Insomnia, Schizophrenia, and Asthma. Her father’s family has medical history of Epilepsy, Insomnia, and high blood pressure. Blood pressure, checks for a basic cold, and a blood test were the vitals taken on arrival.
Ms. Smith was agitated
“Fatal familial insomnia is an inherited prion disease that affects the brain and other parts of the nervous system.”("Fatal Familial Insomnia." Fatal Familial Insomnia | Disease | Overview | Genetic and Rare Diseases Information Center [GARD]) Symptoms of this disease usually begin in midlife and can include insomnia that worsens with time, high blood pressure and vivid dreams. As previously stated, many people also develop ataxia with this disease. Ataxia is the inability to coordinate movements which causes a jerking motion or a gait in walking. In figure 6 it is shown that ataxia is a more common side effect when dealing with diseases that affect the Nervous System. FFI is caused by a mutation in the PRNP protein, and its function is unknown. Because Jane’s family history is consistent with autosomal dominant inheritance and the PRNP test came back positive, her diagnosis was made
Her ataxia had progressed, which worsened her insomnia and forced her to quit her job. Her face had become gaunt and there were dark circles under her eyes, which indicated that she was sleeping less and less. She had seen other medical professionals that had prescribed sleeping pills and pain killers, but they weren’t working to the full extent. From that point on, Jane announced that she was no longer going to take medications and would accept the fatality of her disease and be happy to not have passed it on. Ms. Smith has since sent in both of her siblings to get tested for Fatal Familial Insomnia, in which the middle sibling has tested positive for the gene but has not shown any symptoms of the disease. After a tough 8 month battle, Jane succumbed to Fatal Familial Insomnia and donated her remains to science in order to discover a possible cure for