Our son Andrew, is our inspiration behind much of what propels our family. Born to Paul and Nicole Schmidt of Becker, MN, Andrew was quite the surprise! Sisters, Lindsey and Hannah, were 9 and 7 years old when Andrew was born. His life is not only a miracle, but was life changing for us all. Andrew was diagnosed with Pallister Killian syndrome (PKS) at the age of 5, after he was first diagnosed with Beckwith-Wiedemann syndrome (BWS). Andrew never really seemed to fit the BWS mold, so having a proper diagnosis that fit brought the support and clarity we had been searching for. At the time of his diagnosis, we learned that Andrew was the only child with this rare syndrome in MN, and 1 of 200-300 in the world with PKS.

While Andrew may not have had the correct diagnosis early on, we were tightly connected to about every therapy you could think of and we were seeing multiple specialists due to his developmental delays and medical concerns. Andrew had global developmental involvement, profound hypotonia, hearing loss, seizures, and vision issues. Although we were well connected, there never seemed to be enough time in the day (as many of you may know from caring for a medically complex child). Between multiple therapies a day, social workers, paperwork, schools, doctors, daily tasks (not to mention meeting the emotional needs), for our family of 5, …our world was turned upside down and our perspectives had changed. I was no longer the mom of two high achieving little girls, but a mom to a little boy who needed my help desperately to survive this world of ours. I was now my son’s greatest advocate. The one to tie every doctor appointment, school meeting, social worker visit, every phone call, together and have the best life we could.

Andrew was about 3 years old when we were preparing to send him to ECFE. At this point, we knew he had poor hearing and he wore hearing aids. He wasn’t walking, talking, feeding himself, or communicating in our typical way we think of communication. I started looking for schools for the deaf and quickly realized our state did not have many options. I called the number for the Minnesota DeafBlind Project and I spoke with Sally. We talked my whole lunch hour. She asked several questions, and one was, “is Andrew deafblind?”, to which I responded, “No! His vision seems fine!”. His doctor was always pleased when he saw Andrew. But, she told me to ask him anyways if Andrew had something called CVI (Cortical Visual Impairment). Coincidentally, we were scheduled to see his Ophthalmologist that week. I brought in the form to see if Andrew had this abbreviated word I didn’t know what it stood for. Andrew’s doctor said, “oh yes, he sure does have that!”.

Within days, we were meeting with the late Dr. Jan van Dijk, a specialist in deafblindness from the Netherlands who happened to be presenting in Minneapolis, and wanted to meet Andrew. For the first time in 3 years, I was given hope that I could connect with my child. Tears flowed from my eyes as I listened to Dr. van Dijk’s presentation. I saw how communication is not just expressed in words, but through touch, eyes, breath, body language. I learned that Andrew absolutely knew me from a stranger. I learned there were tools we could use to foster a love with my son whom I desperately wanted to connect with. I finally had hope and focused my energy on what we can do vs. dwelling on what we couldn’t change. I felt like this was the first time someone had given me permission to fall in love with our little boy who was not meeting any typical milestones. We were encouraged to build our new found communication from his breath, his eye movements, body language and touch. A kind of communication so unique, so special and a bond that is now hard to even explain. This intervention changed my entire perspective. It came at a critical time of a lot of grief, loss and loneliness. This validation that someone understood our struggle with a helpful perspective, was the light in the dark. The DB Project gave us the tools we desperately needed. Hope is so powerful.

Click here to continue reading the Schmidt Family Story and learn about the non-profits that Nicole has started for children and families affected by rare genetic conditions!