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Nikki and Sean: OI- Brittle Bones
They told us they thought he had a form of dwarfism based on his femur length. His femurs are shortened and curved, which is a marker for other conditions....
Natalie: Rett Syndrome and Facial Differences
"I held her and I cried and the nurse held me and from that moment on I said “I don’t care about anything else other than protecting her and doing...
Adrianne and Jason: Tetra-Amelia Syndrome
Adrianne and Jason had two biological daughters and an adopted son when they adopted and their daughter Maria from the Philippines. Maria was born missing...
Jori and Dan: Autosomal Recessive Centronuclear Myopathy
Jori and Dan have a very unique son named Luxton. He is one of three cases in the world that has autosomal recessive centronuclear myopathy type 5....
Laurel and Jaron: 18 P Deletion
Laurel and Jaron didn't receive a diagnosis for their son, Shane, until he was 4 years old. Shane is diagnosed with 18 P Deletion. 18p Deletion He...
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