By Nicole Schmidt
Excited to wear my cute boots for a post-Christmas brunch at my sister’s, I needed to use the bathroom one more time before we headed out. Let’s just say when I sat down I got more than I had expected.
My son, Andrew Jacob Schmidt, entered the world three weeks early and changed our lives forever. As a parent, you never forget the first time you look at your child. When I first locked eyes with Andrew, I knew something was not right but couldn’t put my finger on it. The phrase “coarse facial features” was used by our pediatrician, and we were encouraged to be evaluated by a geneticist.
When Andrew was 4 months old, we visited Children’s Hospitals and Clinics of Minnesota. With thick stacks of paperwork in hand, the questioning and assessment of our son and his coarse facial features began. We worked with Dr. Nancy Medelsohn and the genetic counselor that day and over the next few months. After a multitude of tests and referrals, they concluded that that Andrew had Beckwith-Wiedemann syndrome. This rare disorder is characterized by pre/postnatal overgrowth, neonatal hypoglycemia, congenital malformations and a higher risk for tumors and cancer.
Over the next few years, Andrew continued to struggle. He was not meeting basic developmental milestones and was suffering from low-muscle-tone seizures called myoclonic jerks and was diagnosed as deaf and blind. Oddly enough, none of these symptoms were associated with Beckwith-Wiedemann syndrome. There were frequent phone calls from Dr. Mendelsohn’s office, most often from herself to guide us to the next course of action, set up early intervention, refer us to other specialists or relay lab work or ultrasound findings.
After attending a Beckwith-Wiedmann syndrome medical conference and sharing Andrew’s case with several people including Dr. Beckwith himself, my husband, Paul, and I decided to reach out to Andrew’s superstar, Dr. Mendelsohn. We shared what we had learned and she reopened the case. Soon after, she recommended that we test for an extremely rare genetic disorder called Pallister-Killian syndrome.
I was certain the test would prove negative, until I looked up this syndrome the night before the test. I couldn’t believe my eyes; it was like Andrew was plastered all over the website: broadened eyes, turned-up nose, myoclonic jerks, severe cognitive delays, deafness and blindness. Andrew met almost every characteristic. We weren’t surprised when Dr. Mendelsohn called to confirm Andrew’s diagnosis. Pallister-Killian syndrome occurs for no known reason. With only 300 diagnosed worldwide, Andrew was the first diagnosis in Minnesota.
We finally had an answer. We had milestones to look forward to and compare. For the first time, we were looking at our son with all of the things he had accomplished versus all the things he hadn’t. We had a diagnosis. We had a doctor who listened to me, a doctor who trusted me, and I trusted her. Mutual respect for knowledge and skill, her wisdom from education and practice combined with my 24/7 observations, commitment and love for my child made us a great team, Team Andrew.
With this diagnosis, my grieving and healing had already begun. I started forgiving myself for a syndrome over which I had no control. I started taking some deep breaths and learned we were in a marathon. There were no quick fixes, no miracle drugs, no special cures.
As we approach Andrew’s 10th birthday, he can walk with a walker and says “mama” and “more”; our dreams obviously have changed, but the journey to help him become part of this world now is supported with the resources we have gathered along the way.
Without the open mind of one doctor, who knows where we would be today?
As far as the cute boots? I still have them. My marathon might not be running in Duluth, but it’s a marathon that requires a unique set of training. It is a life most fear and one that I wouldn’t wish on any of you. But it’s a life with great purpose and meaning and sweet silver linings along the way.