Rare Disease Paper

That CDC states that a rare disease is a condition that affects fewer than 200,000 people in the United States or no more than 1 of every 2,000 people in Europe. Examples of rare diseases are life-threatening and physically or mentally disabling conditions such as Huntington disease, spina bifida, fragile X syndrome, and Duchenne muscular dystrophy. Additionally, many rare diseases have a long list of characteristics that present serious challenges for public health practitioners. Among rare diseases it is common to find that 1) diagnoses are difficult and delayed; 2) case definitions for surveillance are usually lacking; 3) International Classification of Diseases (ICD) codes for record keeping are poorly defined or not assigned; 4) underlying molecular or physiologic mechanisms are unknown; 5) specialized and coordinated medical care is in short supply, and treatments can be complex; 6) standards of care for treatment and rehabilitation are not evidence-based because health research is necessarily done at small scale; 7) longitudinal data collections are scarce; 8) the development of new medications and treatments can be fragmented and slow; 9) screening strategies lack efficiency; and 10) scope and capacity of most registries and databases are limited. Despite the challenges, there are compelling reasons to apply a public health approach to rare diseases. Rare diseases collectively affect about 25 million people in the United States, about 30 million in Europe, and about 400 million worldwide.  
      For this paper I want you to visit the NORD (National Organization for Rare Disorders) and pick one of the 7,000 rare disorders and research the following for said disorder: a brief overview of the disorder (under general discussion), signs and symptoms, causes, affected population, diagnosis, treatment, and what interests you the most about the disease you picked. This paper is worth 70 points, should be at least 3 pages doubled spaced, and in APA format. Please cite your sources within your paper and also attach a reference page, you will need at least three scholarly resources. Please look through all the disorders and pick something that interests you, not just something on the first page. I will be looking closely at sentence structure and grammar. Also,  no copying and pasting please, put the information into your own words with the information the NORD website provides and any other reference you obtain. This paper will need to be submitted via safe assign. If you have any questions or concerns, please email me. This paper is worth 70 points. 


Rare Disease Paper

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