–Barbara Seaman
I love New York. If this sounds strange coming from a prairie person, I have my reasons. For one thing, New York has given heart and life to CPT research.
Credit Salvatore DiMauro, M.D., of Columbia University for much of the early progress.
Dr. DiMauro reported the first case of CPT deficiency from Philadelphia in 1973, but he was well established in New York when he delivered my diagnosis in 1983.
Last year another New York announcement made waves in Kansas when Georgirene D. Vladutiu, Ph.D., found a new CPT II mutation in my family. Clearly New York has been good to me.
Beyond a sense of gratitude, these interstate events got me to thinking about the geography of CPT II deficiency. Exactly where in the world are the real people behind all the anonymous case histories?
Among other places, I’ve discovered, they’re in Saudi Arabia, Canada, Norway, England, Italy, France, Germany, Israel, Spain, Australia, Portugal, India, Belgium, Republic of Macedonia, New Zealand, Poland, Netherlands, Mexico, Russia, Switzerland, United States and Japan.
There are a brother and sister in Norway who by now would be thirty something. In France there’s a boy who would be a man of 21. In Israel a mother who gave birth to her second child with the aid of intravenous glucose and her brother who lives in Belgium. In California a middle-aged U.S. Marine veteran. In Italy a 26-year-old man whose parents were cousins. A pair of brothers in Portugal. A pair of German twins. A Japanese woman diagnosed in 1989 at the age of 17. The list goes on.
Personally, I can vouch for one male teacher who lives down under in New South Wales, and additionally we’ve heard of several more cases in New Zealand. CPT II deficiency is an international disorder.
Not that we’re short of American cases either. Our current mailing list for The Spiral Notebook includes more than 100 patients in Hawaii, California, Washington, Oregon, Montana, Arizona, Texas, Oklahoma, Kansas, Nebraska, Missouri, Colorado, North Dakota, Wisconsin, Minnesota, Michigan, Illinois, Indiana, Ohio, Tennessee, Louisiana, Mississippi, Alabama, Georgia, Florida, North Carolina, Virginia, Maryland, Delaware, Rhode Island, New York, Massachusetts, Connecticut, and Maine–though the majority of our newsletters go to readers in New England. Which brings me back full circle.
Guess which U.S. state has supplied the most readers for The Spiral Notebook. New York, of course.