On 22 March 2021, I found out I was pregnant. It was the day before my husband and I’s four year wedding anniversary. What a wonderful anniversary gift. Being new expecting parents, we were excited and terrified at what laid ahead for us.
During the pregnancy, I had prenatal genetic screening done to detect any chromosome abnormalities or deficits, such as Down Syndrome. All results came back negative. I also had additional genetic testing done to see if my son would have my PAX6 gene mutation, which caused me to have aniridia and visual impairment. These results also came back negative, and I was so relieved. He would have colored eyes! He would not have to experience similar medical issues and hardships that I had to endure growing up! Little did I know then that Zach would have his own rare genetic disorder due to a mTOR gene mutation.
As the pregnancy progressed, I had a multitude of symptoms, complications, and tests that no one prepared me for, but that is a story for another day. In ultrasounds, my son was consistently measuring larger than normal. My husband was a big baby, weighing in at 10lbs so I thought his size may be an inherited trait from his dad. Then, I was diagnosed with gestational diabetes, and I was told by my OBGYN that this probably contributed to his size. Fast-forwarding to the birth, Zach came six weeks early and had to stay in the NICU for 3 days due to swallowing meconium and having low oxygen levels.
We left the hospital and began our new normal of being parents. Zach’s head circumference consistently measured in the 99th percentile at his checkups with his primary care doctor. We had an ultrasound done to examine his head for any concerns. The results came back normal.
Zach also began missing many milestones. At the time, I thought, or maybe hoped, that it was because he was born premature and that he would catch up in time. Zach’s doctor referred us for early intervention services due to his delays, and he was assessed when he was 10 months old. It was determined that he had global developmental delays, feeding issues, chronic congestion, and a tongue/lip tie. Early intervention recommended that Zach start occupational therapy, participate in a swallow study, and see a pediatric dentist, ears nose throat doctor, and geneticists.
Our days became filled with doctors appointments and tests, and on 5 December 2022, Zach was diagnosed with Smith-Kingsmore Syndrome (SKS). I was relieved to finally have a cause for all his developmental and medical concerns, but it did not make the diagnosis any easier to digest. If I am being honest, I was shocked and filled with grief, not because I loved him any less, but because having a disability myself, I knew he would have challenges and stigmas that he would have to endure.
So, being parents of a child with a rare neurodevelopmental genetic disorder became our new normal. Not much is currently known about SKS, and outcomes vary among those with the syndrome. We are taking it one day at a time. We love him dearly and will be there to help him through all life’s adversities.
Today, Zach is 15 months old. He can crawl and sit unassisted for the most part, but he is still nonverbal. He is a happy and sociable kid who loves cuddles, bathtime, and Minnie (our cat).
Parenting is hard, especially when you have a child with a rare condition. In any case, all you can do is try your best with the knowledge and experience you have.
Written by Summer, Zachariah’s mother
