The moment Dylan was born, his dad Jacob knew something wasn’t right.  A few minutes later Dylan needed intubation and spent his first hours in the NICU.  Dylan’s mom Maria recovering in her room, wondered where her new baby boy and husband were.  Once stabilized, Jacob was able to bring baby Dylan to his mom.  The joy of two new parents was short lived, as the first days spent in the hospital were filled with setbacks and frustrations.  Dylan wouldn’t eat and when he would, it would all come back up.  Weight gain was a concern for the doctors and nurses where additional days in the hospital were looming.  Conversations with the pediatrician while at the hospital only offered what would be a long road of visits to specialists looking at the multiple differences Dylan had compared to a “Normal” baby: trouble breathing at birth, difficulty eating, lack of appetite, failure to thrive, hypothyroidism, developmental delays, unique facial features, hairy body, fused vertebra, low tone, the list goes on, but no one could tie them all together.

Dylan’s first 6 years were filled with procedures, scans and tests with countless specialists, including the Genetics team at Children’s Hospital in Minneapolis.  At the age of 5, Dylan’s geneticist had a hunch and brought in her partner to look.  His physical features coupled with the medical issues, matched very closely to another child that was recently diagnosed with a profoundly rare genetic disorder: Wiedemann-Steiner Syndrome.  However, full diagnosis could not come without full genome sequencing, which was extremely expensive and would take over 6 months to complete.

At the age of 6, Dylan received the formal diagnosis of WSS.  Receiving the diagnosis was first thought to bring some closure.  “We finally have a name and can help him!” thought Jacob and Maria.”  This relief was short lived.  At that time The Genetics team only knew of about 20 other diagnoses in the world, Dylan being the second known case for the Minneapolis Children’s Genetics team.  Maria and Jacob were told “Here are a couple of research papers we found on the internet.  Please schedule another appointment to come back in another year”.  Little did Maria and Jacob know THEY would be the ones teaching the doctors about this newly found syndrome.

Shortly after receiving the diagnosis, Maria found a Facebook group of parents whose children also had WSS.  This was a game changer.  We learned that our kids were all so similar.  The pieces then fit.  We then knew where all the differences and little things came from.

It has been over four years since Dylan’s diagnosis.  Since then, the Facebook group has grown to over 400 families – all helping each other by sharing experiences, tears and joy all the same.  Jacob, Maria, and Dylan have also had the opportunity to meet face to face with other WSS families at 2 separate events: Baltimore in 2015, with 15 families, two physicians and associates leading the charge in WSS research; and most recently in October 2017, when the WSS foundation hosted their first conference in Orlando.  The same physicians and 30 families attended.  “It is so amazing to be around people who just get it.  They get what you’ve gone through and you’re all walking this journey together.  When your child has something that is so rare, you feel alone and isolated sometimes, because no one truly understands what you’re living.  We will never forget meeting those families in Baltimore and Orlando.”  “The fellowship and friendships gained are ones that will last our lifetime” said Maria and Jacob.

Dylan is now a third grader and is flourishing.  He is a happy boy whose zest for life is inspiring.