Well the meeting with the geneticist went fine. He seemed a little giddy as he presented the information (he really likes this stuff!). Madeline has a duplicate piece on her 8p23.1. If you’d like to know more you can read the paper entitled “8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families”, which was handed to us. There are 10 recorded cases of this (now 11). From the info we have, the only likely symptom is a heart defect – which we have. There are other symptoms, but rare and not necessarily tied to this syndrome. The author of the above mentioned paper is a colleague of our geneticist at the university and would like to come down and see Madeline.
All of this doesn’t really affect or change the situation Madeline is in. We’ve got an MRI tomorrow so please be praying for that. Once again, thank you all so much for prayers and encouragement that you are sending our way. Currently Madeline is resting on mommy’s chest and mommy is smiling.
Shanker & Lisa.