Zuri | Born March 15, 2022
Zuri was born on March 15, 2022. The pregnancy was not complicated and we planned an unmedicated water birth. When we arrived to the hospital we learned that Zuri’s heart rate was not fluctuating as expected with contractions. The medical team advised an emergency C-section and found the cord had been compressed during labor but Zuri’s vitals were good and we celebrated a healthy baby.
The first 4 months of her life, we enjoyed a happy, healthy baby who seemed to be hitting her milestones. She struggled to gain weight at first but we assumed it was a lack of breastmilk supply so we supplemented with formula.
Around 4 months we noticed that Zuri had 1 eye that was turned in. It also appeared that any tracking she seemed to have been in able to do had abruptly stopped. The sudden onset gave us (and her pediatrician) the impression that Zuri might be fighting an infection or had a serious concern we should look into immediately.
This is when our medical journey began.
We visited a Pediatric Opthamologist (Dr. Melanie Kazlas at Boston Children’s Hospital) who determined that Zuri’s eyes structurally appeared fine and recommend a visit to Neurology. The neurologist (Dr. Eugene Roe) determined motorically, Zuri appeared developmentally on track and recommended an MRI and lab tests. Her MRI and lab tests were normal so after a follow-up with Neurology we were referred to Metabolism and Genetics lab at Boston Children’s Hospital. They performed an evaluation to determine what tests to perform. About 5 weeks later, we got a call to come in to learn about her diagnosis.
Our world came to a screeching halt when we learned that our beautiful, amazing, giggly daughter has a genetic condition called SYT1 and there was not a cure or even a treatment.
It’s been about 5 months since that day. Since then our perspective has changed. Although we wouldn’t choose for our daughter (and our family) to experience this, we’ve gained many new things. We’ve gained appreciation that our daughter is still the amazing little girl we know and love. We’ve gained a new community of SYT1 families and rare disease families who are so kind and helpful. And, we’ve gained a purpose to help build community where we can and help other families find hope.