Daily Archives: June 3, 2008

Doctors attempt to become even more involved in procreation

Amazing how much coverage a small breakthrough in Embryonic stem cell research gets

Every minor breakthrough in ESCR gets tons of press, but where’s the press for these advances in adult stem cell therapy?

Here’s another article on that guy who claims he’s been helped by embryonic stem cells

Canadian Colleges Ban Pro-life student groups for being "Sexist"

Doctors attempt to become even more involved in procreation

Amazing how much coverage a small breakthrough in Embryonic stem cell research gets

Every minor breakthrough in ESCR gets tons of press, but where’s the press for these advances in adult stem cell therapy?

Here’s another article on that guy who claims he’s been helped by embryonic stem cells

New Video Site allows disabled to express themselves

Here’s an article about a 5-year-old girl with "severe infantile" Marfan syndrome

The article is mostly good. Family’s inspiring. The little girl, Sydney Leman, has had two heart surgeries, a back surgery and an upcoming eye surgery. Her mother has started a foundation, and raised $150,000 for the National Marfan Foundation.

However, articles always have slight inaccuracies. In this case,

Most people who have Marfan syndrome have a family member who had the disease, but in Sydney’s case she is the first in her family because of a spontaneous gene mutation, which is the syndrome’s rarest and most dangerous form.

There is a myth that mutations are “more severe” than other people. Sydney is clearly a case of “severe infantile” Marfan syndrome, which *is* the most rare and severe form, and it is usually found in spontaneous mutations, since, by definition, people with severe infantile Marfan syndrome don’t normally live much past childhood.

Then there are those of us who are mutants, but not necessarily “severe infantile” cases.

At some point, every Marfan family has to have started with a mutation. Sometimes, people are diagnosed without knowing they have a family history, and then the family history is discovered. Sometimes, people find out in adulthood that they have Marfan syndrome. And when people who have Marfan syndrome and know it have kids, their kids get tested.

By definition, though, for a young person who has Marfan through spontaneous mutation to be diagnosed prior to adulthood, that person must obviously have some severe manifestations, where other mutant Marfans dont’get diagnosed until adulthood, if at all.

So this leads to the myth that “mutations are more severe”.

As or the Lymans, here’s another article on their fundraiser.

A Basketball player for the University of Louisville has been diagnosed with Marfan syndrome

Congratulations to Clarence Holloway for doing the wise thing and ending his basketball career but continuing his education. He’s fortunate to have been diagnosed before it was too late. Hopefully, he’ll make something of himself and of his condition.