Dr. W determined that L does NOT have Marfan Syndrome, however, he did say that he has marfanoid habitus, which essentially is a very fancy term for "tall and lanky."
Dr. W said he had some 'homework' to do. He wants to check to see if there is documentation of other people with similar deletions to L's who also have marfanoid habitus. If so, then these characteristics will be determined to be linked to L's deletion. If not, then Dr. W would like for L to have another blood draw to take a much closer look at his genetic make-up. Since his original diagnosis, there have been developments and now the testing can give much more detailed information about specific regions. There are pros and cons (as with anything). With more information, especially with genetics, there come just as many questions. It seems as if Dr. W was trying to prep us for what could be both an enlightening and frustration experience with this possible blood test. Honestly, L's deletion is such a mystery that I would welcome ANY information, even if we don't know what it means!
Still a waiting game. I have a feeling that will be the story of his life, but what fun he makes it along the ride!
