We have another puzzle piece in Emmalee's story. I received a call from her geneticist this morning and in addition to Emmalee being a carrier of Myotonic Dystrophy, she also has a defect on her DPF2 Gene. The condition associated with this gene is called Coffin-Siris Syndrome. Or (CSS) for short. Patrick and I will be sent a DNA kit to test our genes to see if this is congenital or if Emmalee is an anomaly. This is a very rare Hypotonic Disorder. It can cause an array of disabilities and symptoms. Not much is known because every case is different. As always, we will let Emmalee dictate to us her needs and we will support her any way we can.
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