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The journey has been rough for myself and her dad due to the limited information about what Rylee will be like going forward. What makes her rare is that she has the duplication of 12p which is consistent with PKS but she also has a deletion which is 20p and some of the extra genetic material from the 12p chromosome was moved to where the missing 20p material is. Doctors at Childrens of Philly have stated that they have never seen this particular combination before. Rylee has symptoms from both the deletion and the duplication.
