Emma Leann Kuenz

Emma Leann Kuenz was born on June 9, 2006. She was born 3 weeks early and weighed 4 pounds 14 ounces and 16 inches long. She is the youngest of 4 children.  Before we got the diagnosis, Emma faced many challenges such as failure to thrive, delayed milestones, delayed speech, epilepsy, hypotonia, sensory integration dysfunction the list goes on and on. She seen several specialists such as Cardiologist, Pulmonologist, Ophthalmologist, and Geneticist. She had Occupational Therapy, Speech Therapy and Physical Therapy.

Smiling girl with Koolen-de Vries Syndrome with family

As Emma got older and her milestones were more and more delayed, I became consumed needing to find answers. I needed answers to why Emma was delayed, why she looked different than her siblings and why she was given a harder life to fight. Every doctor and specialist she saw had no answers. Her FISH test came back normal, her blood work for other syndromes that she was tested for came back negative and I became more consumed. I constantly researched.

Finally in June 2013, after ordering a Whole Genome Sequencing test and waiting 2 months, We had our answers. Emma was diagnosed with a mutation on KANSL1 in C17q.21.31.We finally had answers and were also scared and confused about what this meant for Emma. We googled and researched everything we could about KDVS. We were told about a FB page with other Kool kids…and we were shocked when we saw the pictures of Emma’s extended family. They ALL favor each other in so many ways. We were astonished!!

Although KdVS is pretty rare and we’re still not certain about what the future holds for Emma, we are relieved to finally have answers. Emma has made great strides with her speech, although she can be quite hard to understand sometimes. She is being monitored closely by her Cardiologist for her ASD, her Sensory issues are still a work in progress,and her Epilepsy is being controlled better than it ever has been.

Emma loves to do puzzles, loves to sing, loves to go to school and loves to EAT! She wakes up every morning with a smile on her face and ready to face the day. She is an inspiration to those who know her. She has always fought her way through life. She is the strongest and most courageous person I know. She loves hard and always brings a smile to everyone’s face.  I have learned from Emma that there is absolutely no rush in achieving milestones…great things come to those who wait! To learn more about Emma’s journey please visit her page Emma’s Journey on Facebook.