Angela
Elite member
- Messages
- 21,823
- Reaction score
- 12,328
- Points
- 113
- Ethnic group
- Italian
This is a very engaging story about a cluster of Americans of colonial and/or northwestern European origin who suffer from FMV, or Familial Mediterranean Fever, which, as its name implies, is usually found in people of Mediterranean descent.
The cluster was discovered by a professor of medicine who was luckily diagnosed (partly, I think, because of her own grit, determination and imagination, and partly because of her contacts in the medical profession) and who then did the necessary genealogical research.
http://www.huffingtonpost.com/janine-jagger/all-i-want-for-ramadan-is_b_4214527.html
The amusing title of the article is "All I want for Ramadan is my own mutation". It makes a serious point, however. There is no test for the disorder, as there is no test for many auto-immune disorders, but another complication is that, as the author's case shows, all the mutations that produce it have obviously not been discovered, so even genetic testing would not, in such situations, help in diagnosis. Also, it's difficult to see how she would have acquired two copies of this mutation, so perhaps labeling it a recessive autosomal disorder needs to be re-examined.
The cluster was discovered by a professor of medicine who was luckily diagnosed (partly, I think, because of her own grit, determination and imagination, and partly because of her contacts in the medical profession) and who then did the necessary genealogical research.
http://www.huffingtonpost.com/janine-jagger/all-i-want-for-ramadan-is_b_4214527.html
The amusing title of the article is "All I want for Ramadan is my own mutation". It makes a serious point, however. There is no test for the disorder, as there is no test for many auto-immune disorders, but another complication is that, as the author's case shows, all the mutations that produce it have obviously not been discovered, so even genetic testing would not, in such situations, help in diagnosis. Also, it's difficult to see how she would have acquired two copies of this mutation, so perhaps labeling it a recessive autosomal disorder needs to be re-examined.