Story about Cohen Syndrome .

Dustin's Journey

Dec 12, 2018

Year Condition Began: 1983


I am Dustin's mom. He was finally diagnosed at age 32 in 2015 through genome wide sequencing. His symptoms include microcephaly, neutropenia, kyphosis/scoliosis, hypotonia, retinitis pigmentosa, hiatal hernia w/ acid reflux, and high arched feet. Since registering with the SCNIR and starting low dose neupogen, his mouth ulcers have disappeared. He suffered with them for many years. He wasn't diagnosed with Neutropenia until 2011. I am very thankful for the support received from being in contact with other parents.

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