Porphyria And Genealogy

It's very important when diagnosing to consider "family history" to determine whether your Porphyria is inherited or acquired. It also catches some people who may slip into the cracks of "further testing required". but not always. When moms diagnosis was reversed because of ignorance on her doctors part I became frustrated and decided to see whether people with Porphyria actually were related to each other. I can't go into detail about the project because of confidentiality but I can tell you it not only amazed the people involved but it amazed the geneticist to the point that he got involved and helped us immensley to get DNA done in Spain to determine if we had King Georges gene. The genes mutate alot so it was a long shot but it did diagnose someone who previously had been told she did not have Porphyria because her levels weren't high enough. Yay... one life saved but the rest are still waiting for that unknown mutation to appear. Literally everyone in the project so far has connected to each other in the family tree from the same lines that gave George his Porphyria. Dr Rushton has written a book on the Royals and their Porphyria going into detail about the medical history and the probability of Porphyria.

Royal Maladies was written by Alan Rushton M.D., PhD who has practiced Pediatrics and Medical Genetics at Hunterdon Medical Center in New Jersey since 1980. He attended the University of Chicago and Yale University, and served on the faculty of Princeton, University of Medicine and Dentistry of New Jersey and the Medical University of the Americas. In 1994 he published Genetics and Medicine in the United States 1800-1922 and soon a new book Genetics and Medicine in Great Britain from 1600 to 1939.

Dr Rushton helped to explain a whole lot of things the group had questions about and explained how intermarriage of the Royal Families of England, France, Russia, Spain and German carried the hereditary diseases from one end of Europe to the other.

So for three years I literally buried myself into geneology and there's really no easy explaination of how so many people can be weaved together like a tightly woven tapestry. We may not have had Georges mutation (with the exception of one) but we certainly share his Porphyria lines several times over. My data base is huge and if you have Porphyria I bet your lines are in it.