“Your son is beautiful, and everything looks fine, except I don’t see an anal opening.”
Imagine hearing those words from your doctor just minutes after bringing your baby into the world. I didn’t hear anything that came after that sentence. Beyond those words, I froze – and it was only the beginning.
Little Rowen was diagnosed with what is known as VACTERL association. It is not genetic, it is not a syndrome and it is not a disease. VACTERL is an acronym that stands for Vertebral, Anal, Cardiac, TraceoEsophageal, Renal and Limbs – all of these systems develop at about the same time in utero and can have malformations. If two or more of these systems is affected, a child is considered VACTERL, capitalizing the letters of those conditions that they have. After many tests and much NICU observation, Rowen was diagnosed as VAcTErl.
What Rowen’s diagnosis means is that he has a partial sacrum agenesis of the spinal cord, an imperforate anus (also known as IA) and traceoesophageal atresia, or EA. In simple terms, this all means that Rowen is missing segments of his spinal cord within the tailbone, he was born without the lower colon and an anal opening, and his esophagus was not attached to his stomach. At 12 and 48 hours old, Rowen underwent two surgeries – one to place a colostomy, and another to reattach his esophagus to his stomach. We spent one month in the NICU to recover, and with a tender tummy, it took a lot of that month for Rowen to learn to eat, which was the most frustrating part of our NICU stay.
After our one-month stay, Rowen was discharged, and we were finally able to come home. We spent three months together at home, and life was our version of normal. Rowen experienced severe reflux due to his EA – he threw up more than he was taking in, and we visited our pediatrician weekly to monitor weight gain and try all sorts of reflux medications. We were documenting everything, including every milliliter of milk he ate, every diaper change and every time he threw up. We were also changing a colostomy bag, which is not exactly an easy task. In the middle of all this adjustment, my husband and I made time to research more about what an imperforate anus was, and what our next step would be for Rowen.
The next part of our journey took us to Nationwide Children’s Hospital and their Colorectal and Pelvic Reconstruction Center in Columbus, Ohio. After flying to Ohio, Dr. Marc Levitt reconstructed Rowen’s colorectal region by performing a Posterior Sagittal Anorectoplasty, and later performed a Colostomy Reversal, which finally reconnected the bowels to create a fully-functional digestive system.
Today, we are home, and we are a full family of four. It may have taken months for us to get here, but Rowen is a healthy and happy baby boy, and while our normal may not be the version everyone else expects, it is ours, and we are grateful for it.
When this journey first started, I had no idea what VACTERL association was or how to handle the changes that came with it, because VACTERL association isn’t something people openly discuss. It was a challenge to hunt down reliable information meant for parents of VACTERL babies, which made it all the scarier walking into a world of hospital hallways and multiple surgeries. Every VACTERL child is different, and yet the journey VACTERL families experience is so similar. Luckily, Rowen and my family had an amazing community of support. Rowen may face challenges as he grows up, and I will in turn be challenged as a parent, but this very challenging time in our lives as a family has also been the most rewarding. I hope that by sharing my story, I can bring awareness about this diagnosis to other families.
Erin Hughes is a mother of two young children, former elementary school teacher and professional photographer. She and her husband are raising their family in Wichita, Kansas. She is sharing her story about her youngest child’s medical journey in hopes of raising awareness and support for other families facing a rare diagnosis.
Written By: Erin Hughes