I have chosen to do this research paper on a very rare disease that directly affected my family. My Husbands Uncle, at the young age of 54, was diagnosed with Wegener’s Disease and survived only six short months from the time of his diagnosis. He was severely ravaged by the disease by nearly every symptom that I will explain further in this research paper. In 1931 the first case of Wegener’s Disease was discovered by Heinz Klinger, a German medical student (although it was not known as Wegener’s Disease at that time). It was not until several years later in 1936, that three more cases were discovered. A German pathologist, Friedrich Wegener described and found this disorder as a distinct form of Vasculitis, a rare blood vessel inflammation that since the 1950’s has been called Wegener’s Disease Granulomatosis. (http://www.hopkinsvasculitis.org/types-vasculitis/wegeners-granulomatosis/2016) In 1989, the American College of Chest Physicians awarded Wegener a “Master Clinician” prize, a year before he died. However in 2000, the American College of Chest Physicians discovered that Mr. Wegener had a hidden past that potentially involved …show more content…
Most patients may begin with symptoms of a runny nose, cold or sinusitis that continue to persist longer than normal upper respiratory infections and fail to respond to therapeutic measures. Even though, not all patients experience all of the symptoms, the severity of the disease is different for each patient. Other symptoms can include: arthritic joint pain, blood in urine, cough (with or without presence of blood), fever, inflammation of the ear with hearing problems, inflammation of the eye with vision problems, lack of energy, loss of appetite, nasal membrane ulcerations and crusting, night sweats, numbness of limbs, pleuritis (inflammation of the lining of the lung), rash and/or skin sores, saddle-nose deformity, weakness, fatigue, and weight
It is truly remarkable how Randy Pausch and Morrie Schwartz stories are so similar but yet so different. They both seem to have an outlook on life in a positive way, not sad or demeaning. The only crippling difference is the fact that Morrie was at the age that wasn’t abnormal to be sick and Randy was just dealt the cards for a short life. One of Professor Randy Pausch’s many quotes during The Last Lecture makes a similar point between his experience and Morrie’s when he says, “…it’s hard to raise awareness of pancreatic cancer – people who get it don’t live long enough.” ALS is such a rehabilitating disease that scientist have issues pinpointing the causes to even get close to a cure, which didn’t hinder either of their strive to keep going as far as they could.
Ransley reports frequent nasal congestion that has been more problematic in the last couple of weeks and I note you have commenced him on some oral antibiotics and prednisolone which seems to be helping.
The mindset of every living organism is to survive and reproduce. As such, it may be surprising to hear that diseases actually plays a crucial role in the survival of our predecessors. In the book Survival of the Sickest, Dr. Sharon Moalem discusses the role these hereditary disorders played in keeping our very ancestors alive. Three examples mentioned in the reading selection include hemochromatosis, diabetes, as well as favism. All the diseases I mentioned had a specific aspect, to which I found particularly appealing. In the case of hemochromatosis, I found it intriguing how the author used his own life to draw a connection between the two traits. Dr. Sharon Moalem lost his grandfather to hemochromatosis and later was diagnosed with the
James Parkinson. It’s not certain how long the disease has existed but its probably been around
One very special case can be displayed by none other than David Beckham, the famous international football star. He says that he has tried various treatments, but the biggest success came from learning to live with the disease (Healthguru, n.d.). His family is also very supportive of his condition, which shows how important family support is. Quoted by Victoria Beckham, his wife, “We've got three fridges - food in one, salad in another and drinks in the third. In the drinks one, everything is symmetrical. If there's three cans, he'll throw one away because it has to be an even number” (Frith,
Valley fever can cause many different symptoms. The infection mainly affects the lungs. Many of the symptoms resemble symptoms o...
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
Liam is a previously healthy boy who has experienced rhinorrhoea, intermittent cough, and poor feeding for the past four days. His positive result of nasopharyngeal aspirate for Respiratory Syncytial Virus (RSV) indicates that Liam has acute bronchiolitis which is a viral infection (Glasper & Richardson, 2010). “Bronchiolitis is the commonest reason for admission to hospital in the first 6 months of life. It describes a clinical syndrome of cough tachypnoea, feeding difficulties and inspiratory crackles on chest auscultation” (Fitzgerald, 2011, p.160). Bronchiolitis can cause respiratory distress and desaturation (91% in the room air) to Liam due to airway blockage; therefore the infant appears to have nasal flaring, intercostal and subcostal retractions, and tachypnoea (54 breathes/min) during breathing (Glasper & Richardson, 2010). Tachycardia (152 beats/min) could occur due to hypoxemia and compensatory mechanism for low blood pressure (74/46mmHg) (Fitzgerald, 2011; Glasper & Richardson, 2010). Moreover, Liam has fever and conjunctiva injection which could be a result of infection, as evidenced by high temperature (38.6°C) and bilateral tympanic membra...
Question Quote "I doubt that these experiences are unique to the hospitals or the medical school at which I have thus far trained. I expect that they pervade health care systems throughout the country. I give credit to my medical school for teaching me to be critical of the culture of medicine, apply interdisciplinary perspectives to clinical quandaries, and reflect on my experiences." (Brooks KC. 2015.)
The symptoms may worsen with lying down in the night, and the patient may be Cyanosed in chronic bronchitis (Rice, 2012). The symptoms may be similar to those of other conditions, and the severity may depend on upon the amount of damage that has been caused to the lungs. There may be other symptoms in severe COPD such as swelling in the ankles, feet or legs with lower muscle endurance. After the doctor has explored the symptoms in a patient and diagnosed it as COPD, several treatment procedures are available depending on the severity of the condition. There are medications, surgeries and other therapies that are available for treatment of the management of the condition where I as the nurse would be involved in choosing the best of option together with the
Other symptoms include breathing issues, ear infections, walking issues, and hunched legs, obesity, abnormal movements of the back, and back pain.
Thank you for referring Ferdinando back to see me for his one-month of history of shortness of breath and cough. As you are aware, he will well up until this stage, but about a month ago he has whats sounds to be a virus lower respiratory tract infection that is causing persisting problems with shortness of breath and cough since then. The cough is productive of a small amount of yellow sputum which is occasionally blood stained. The shortness of breath is on exertion with an exercise tolerance that is quite limited to about 500m from a baseline unlimited exercise tolerance. It is not associated with any significant chest pain. He is not noticing any significant fevers or sweats nor has he noticed any eye problems, rash or any arthralgias.
will generally worsen when coughing, sneezing or moving. Chills, fever and a loss of appetite
In the case study of an Italian family where of 288 relatives over 6 generations, 29 are affected by the disorder. The average age of onset of the disease is 49, but this may vary with the individual as with one female who was 61 years of age.
My future plans are to become a biomedical scientist. Biomedical scientists serve in all levels of health science research from basic science working with cell cultures to human clinical trials experimenting the most cutting-edge breakthroughs to maximize human quality of life. I am interesting in researching rare diseases. There are many rare diseases that affect small proportions of the population and unfortunately go unnoticed for reason. Unfortunately, usually it is because therapeutic agents for these diseases would have a much smaller market than therapeutics for common diseases. There is an immense need for research attention to ultimately improve clinical outcomes in patients of rare diseases because many are a lifelong chronic prognosis and are genetic and non-modifiable by lifestyle factors and are lacking of often absent of current treatment options. The government helps by socializing the solution by having money set aside by public National Institute of Health (NIH) to research ‘orphan diseases’. An example of one such program from the NIH is Orphan Products Natural History Grants Program.