Closure

We finally have the last piece of the puzzle on Kendal's diagnosis. Dr. Charles Williams called me back yesterday afternoon after reviewing Kendal's full lab workups, and said that her definite mechanism is a "non-deletion imprinting defect". This cause (mechanism) occurs in about 3% of all Angelman Syndrome children. It seems that it is so rare that the Angelman Syndrome Foundation are unaware of any child in TN with this type of mechanism. I did however make contact with a family in Illinois whose son has the same type as Kendal. As most of you know, I am quite anxious to talk to other families.

This closure thing has been really nice because I now know all the information there is too know about how this happened. The doctor also confirmed that the recurrence risk is less than 1%. We often think of having another child and although it would be a total blessing to have another child like Kendal, it would also be nice to have a "normal" developing child. I hate to use the word normal because I'm not quite sure what it means in this case. I know that I have missed some milestones with Kendal that would be neat to see with another child. It's funny to think that although I have missed some of these things, I have learned and grown so much because of her. She has changed my life in ways I could never have imagined. I remain in awe of this gift.