Twins!

Last night, I found out that I have a twin! I saw the guy across the room at a bar where a few of us (Paul, Cathy, Jeff, and D) were partaking in a Seinfeld Trivia Contest. We got slaughtered, I've never been so humiliated with my lack of Seinfeld knowledge! What do these other people do, just sit around and watch it all day? An amazing wealth of valuable knowledge these people have, though. I'm jealous!

We are still waiting to hear back from the IVF clinic about the lab that is going to do genetic testing on our embryo someday in the future. Unfortunately, it looks like it will be with a place called Reprogenetics in New Jersey rather than a lab in Chicago (RGI) that I would prefer to use. Reprogenetics has a barely-legible, horribly designed website that even gives javascript SSL certificate errors! I'm going to pay this place thousands of dollars to test an embryo but they can't even make a functional website?!?!? Anyway, somehow I found this nugget of information that is a good overview of stuff:

Myotonic Dystrophy, also known as Steinert's disease or Dystrophia Myotonica (DM) is the most common form of muscular dystrophy, affecting roughly 1 in 8,000 people. The disease has a variety of symptoms including an inability of muscles to relax after contraction, respiratory problems, adverse reactions to anesthesia, cardiac disease, difficulty in swallowing, digestive problems, excessive sleeping and mental disorders. People with DM are more likely to develop diabetes and cataracts later in life. The extent to which these symptoms are manifest varies between individuals. Some individuals remain undiagnosed because their symptoms are so mild. However, at the opposite end of the spectrum infants with the most severe form of myotonic dystrophy often die shortly after birth. In many cases the disease displays an effect known as "anticipation", which means that the symptoms become progressively worse with each generation.

Myotonic dystrophy is a monogenic disease, caused by the inheritance of a single defective gene. Everybody inherits two copies of the myotonic dystrophy gene (one copy from each parent). The inheritance of one defective copy of the gene is sufficient to cause myotonic dystrophy, in other words it is inherited in a dominant fashion. This means that if you are at risk of transmitting a defective myotonic dystrophy gene on average 50% of your children will have the disease.

It is possible to test the myotonic dystrophy gene during pregnancy, thus revealing whether the fetus is affected with the disease. If the fetus is affected then the parents face the difficult decision of whether to continue with the pregnancy or have a termination. An alternative to prenatal diagnosis is to use preimplantation genetic diagnosis (PGD), a method that allows detection of myotonic dystrophy in embryos before they implant in the womb. The main purpose of this test is to allow patients to have children unaffected by a specific inherited disease, without having to contemplate termination of an affected pregnancy. We have developed state-of-the-art PGD tests for myotonic dystrophy that has been successfully applied resulting in the birth of unaffected babies.

To perform the PGD test it is first necessary for the parents to undergo in vitro fertilization (IVF). Using IVF a number of embryos are usually produced. The embryos are grown in an incubator for three days, by which time they consist of a small ball of about eight cells. At this point a single cell can be removed without harming the embryo. The cell can then be subjected to genetic analysis to determine whether it carries a defective copy of the myotonic dystrophy gene. If no defective myotonic dystrophy gene is detected then the embryo is diagnosed as unaffected. Unaffected embryos can be transferred to the mother’s womb and any resulting pregnancy will be unaffected.