Natalie: Rett syndrome and facial differences

Natalie: Rett syndrome and facial differences

Natalie found out during an ultrasound procedure that her daughter would be born with multiple disabilities. She was shocked and only had 4 weeks to prepare for the birth.  The Ultrasound Revealed That Sophia Would Have Many Challenges “During the ultrasound, I...
Jori and Dan: Autosomal Recessive Centronuclear Myopathy

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. Luxton however is the only one in the world that has two mutated genes. Autosomal Recessive Centronuclear Myopathy type...
Laurel and Jaron: 18 P Deletion

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 started missing milestones “We assumed he was like any other kid until he started missing some mile markers. We...

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