Appointment with Dr. Judith Hall

The appointment with Dr. Hall, AMC expert geneticist went well and provided John and I with more info. about Luca's diagnosis. She took down as much family history as we could provide and asked about my pregnancy with Luca. She then launched into an explanation of AMC, the causes doctors know about and then the type of AMC that they don't know what causes it. From our history, amnio results, and the way his arms and legs look she thinks he most likely has the Amyoplasia type of AMC. This type is the one that has an unknown cause (it could still be a genetic reason, but just not discovered yet), is not hereditary, is sporadic (in fact 1 out of 10,000 births.
Amyoplasia means "no muscle growth" for you Latin lovers. The explaination she gave us is that the joints and muscles are formed correctly, but when they are suppose to start growing in the 8-14 weeks of gestation the mechanism doesn't work or doesn't work like it suppose to. She said we would have a 1 in 10,000 times 1 in 10,000 chance of having another child with amyoplasia. On a side note, we were asked to be part of a genetic study at the University regarding this condition. At this point, it just involves getting blood samples from John, Luca and I. Statistically only 5 babies will be born with this in the state of Washington this year.
Lastly, she said these kids generally are able to live independent lives, but not to expect him to become the captain of the football team. She also is hoping that a study is done to see if there is a link between higher intelligence and amyoplasia because she feels there is one from her many years of dealing with children who have this condition. After later on hearing a father who suggested that children who have this need to think differently about how to do things rather than just watch and imitate those older, it seems logical.
She also said that exersise was the best thing for him while I was pregnant, and may be the reason that he is doing as well as he is right now. It was like giving him Physical Therapy in utero. It was nice to hear yet again that I didn't do anything to "cause" this to happen to Luca.