Kid with a concerned smile sitting on rocks

Meet Uzziah

By Rachel Horne | July 28, 2021

About Uzziah We are excited to introduce you to Uzziah! Uzziah and his family joined the JdVS community in 2019 after being diagnosed by a member of the JdVS Medical Advisory Board Dr. Cynthia Curry.  He shares his diagnosis with other family members, meaning his mutation is not de novo.  Like many individuals with JdVS,…

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Happy babies in a bouncer

Meet Noah

By Rachel Horne | February 19, 2021

Noah’s Story Over Noah’s first 4.5 months his mother Nicole spent countless hours and sleepless nights contemplating the cause of the myriad of symptoms that he was having. The twins were born at 37 weeks and 2 days and Noah did not require any time in the NICU. Over the next several weeks to months…

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Smiling kid looking at camera

Meet Wells

By Rachel Horne | February 19, 2021

About Wells Wells was born at thirty seven weeks to his mother, Rachel.  The pregnancy was mostly normal, except for excess amniotic fluid.  Healthy at birth, he was discharged after two days in the hospital.   At twelve weeks, Wells underwent surgery for three hernias.  Around three months, Wells was diagnosed with laryngomalacia (underdeveloped vocal cords) which…

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