Emma’s Story

Emma graced this world upon her entry in 2008. In spite of her rough start in life, she was a determined baby! She was failure to thrive, microcephalic and developmentally delayed with numerous quirky issues like, vesicoureteral reflux, hypothyroidism, optic nerve hypoplasia, and poor appetite… Our family brought her into our lives when she was only 11 days old by foster-adoption, believing, whatever her struggles would be, God would give us everything we needed to meet her needs. Hypotonia and other things such as a tethered cord made mobility challenging for her. She took her first steps after age 2. Socially she has always been strong. She has a lot of empathy for others and loves people right where they’re at. She is happy and positive most of the time; looking to the bright side of things and thanking God for the good in her life–and reminding us to do the same.

Like other’s with the POGZ mutation, Emma has cognitive impairments and struggles with food. She has some gastro-intestinal issues as well. She is aware of her challenges and is articulate enough to advocate for herself and others. She has gained the self confidence to tell people, matter-of-factly, “My brain and body just works different”. She doesn’t show any signs of autism-like behaviors but ADHD and anxiety are prevalent. Her ability to empathize with others due to these challenges gives us great hope for her future as an encourager and nurturer.

When we learned about her POGZ gene mutation, aka White-Sutton Syndrome, there was a relief that came over us. Finally, there was an explanation. I found the the Foundation’s website and plugged into their warm community. We are learning now what Emma’s future holds for her. In spite of her impairments, we’re optimistic. I encourage other families, when appropriate, to get a full developmental evaluation and even a neuro-psychological evalusation to understand your child’s prognosis better and to best know how to advocate for them. While Emma’s milestones come slower than a neuro-typical child, we do see gains and celebrate them!

Emma has asked me to share something for parents who find out their kids have the POGZ mutation, “If parents learn their kids have White-Sutton, know all of us got this together and don’t worry, we all have power inside of us“.