Tuesday, February 28, 2012

Rare Disease Day

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Diane Forrest, RN

As a transfusion was being readied, the baby's grandmother suggested to doctors that he looked like the "blue Fugates of Troublesome Creek." Relatives described the boy's great-grandmother Luna Fugate as "blue all over," and "the bluest woman I ever saw."
This is a very rare condition called methemoglobinemia, the hemoglobin is unable to carry oxygen and it also makes it difficult for unaffected hemoglobin to release oxygen effectively to body tissues. Patients' lips are purple, the skin looks blue and the blood is "chocolate colored" because it is not oxygenated, and it is not painful or life threatening.  You almost never see a patient with it today. It's a disease that one learns about in medical school and it is infrequent enough to be on every exam in hematology.

Click here to read the entire story: http://gma.yahoo.com/fugates-kentucky-skin-bluer-lake-louise-200247843--abc-news.html

Another story I came across recently is a rare skin condition called Morgellons.  It is a condition characterized by a range of cutaneous (skin) symptoms including crawling, biting, and stinging sensations (formication); finding fibers on or under the skin; and persistent skin lesions (e.g., rashes or sores).  Doctor's and Dermatologists have concluded that this condition is a psychosis, self-inflicted or imagined.  There is still research being done on this condition, and findings are still being reported.
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Today is International Rare Disease Day. 

What is a rare disease?
  • Rare disease is life threatening or chronically debilitating diseases with a low prevalence and a high level of complexity
  • 6000 to 8000 rare diseases have been identified
  • 80% are of genetic origin
  • 50% affect children
  • No cure exists for the vast majority.

Any disease affecting fewer than 200,000 Americans is considered rare. There are nearly 7,000 such diseases affecting nearly 30 million Americans.

What is Rare Disease Day?
The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

To provide equity in access to care and treatment for everyone in the world by:
  • Strengthen one voice of patients;
  • Give hope and information to patients;
  • Bring stakeholders closer together;
  • Coordinate polity actions in different countries; and
  • Get equity in access to care and treatment.

Ways you can help:
  • Display posters, images or other awareness raising media such as balloons;
  • Distribute stickers and flyers;
  • Organize rare diseases events around topics paramount to patients;
  • Organize a competitive event focused on rare diseases;
  • Coordinate letter writing or email campaigns to local policy or national policy decision makers; and
  • Arrange to meet with local and national authorities.

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Links to check out regarding Rare Diseases are:

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