Tommy’s Story: Why 22q Awareness Matters

When I was pregnant with Tommy, I had this uneasy feeling deep in my gut that something wasn’t quite right. The doctor reassured me over and over that everything looked normal, it was just a small country practice with one OBGYN, one ultrasound, and Tommy’s little hand covering his mouth on the screen. But the feeling stayed. I couldn’t put words to it, but my heart knew something was off.

Nothing could have prepared me for his birth. It was one of the happiest days of my life… and also one of the scariest.I delivered him in Dunn, and the doctor on call wasn’t the one I had been seeing. My water broke exactly at 36 weeks. Tommy was halfway out when the doctor said, “He has a cleft lip, did you know?”

I finished pushing, and the room went silent. He wasn’t crying. I was panicking.He finally made a tiny sound, they held him up for barely a second, and then they whisked him away to the NICU.

Then came the pediatrician. The questions. The implication that I must have done something wrong... drinking, drugs, anything to explain why my baby looked different. After I answered everything, she told me they needed to transfer him to UNC Children’s Hospital because the oxygen masks “wouldn’t work well since his face is deformed.”

I will never forget how those words felt.This. This is why awareness matters.

Before they transported him, I got just a moment to hold him and kiss him. The next day, as soon as I was discharged, I raced to Chapel Hill to be with him.

During rounds, the student doctors began listing what they’d found:a cleft lip and palate, a heart defect (Tetralogy of Fallot), webbed vocal cords, a Dandy-Walker brain variant, and the fact that he couldn’t eat.His first surgery happened at just four days old.

Because there were so many things going on, genetics stepped in. It felt like a new medical revelation every day or two. When Tommy was about three weeks old, the geneticist asked to make sure I was at his bedside, I basically lived there, and said they had found something. A genetic counselor was on the way.

When she arrived, she told me Tommy had a 22q11.2 deletion, also known as DiGeorge Syndrome. She explained what she could, but the thing that stuck with me was the uncertainty.He might need lifelong, heavy assistance.Or he “might just struggle in math,” as she put it.

I was terrified. I was confused. I felt alone.I desperately wished there had been a community of parents who understood.

Tommy stayed in the NICU for 4½ weeks and came home with a feeding tube. Carrying him in our door, without wires, felt surreal.

The goal was for him to reach 10 lbs before open-heart surgery, but at almost three months old he was only 8 lbs and entering congestive heart failure. We couldn’t wait. He spent his first Christmas in the PICU recovering, but the change afterward was incredible: his color improved, his energy grew, and the day before discharge he gave his very first smile.

The NICU nurse had been right: cleft smiles are the best smiles.

Since then, Tommy has had nine surgeries and more procedures than I can count. He was delayed developmentally, he used a walker until three, and he didn’t talk until almost four. He started school in a self-contained EC classroom because of severe social anxiety, and it was the best place for him at that time. After an amazing year in third grade, we repeated the grade (“3rd grade, V2”) so he could transition into general education with support.

He thrived again, socially and academically.And now he’s in seventh grade, doing amazingly well.He still struggles with curriculum, but seeing him laughing and socializing with friends, real, genuine friends is something I once wasn’t sure I’d ever see.

He has graduated from physical therapy and occupational therapy and now just continues speech and feeding therapy. He was tube-fed until almost four, then slowly started drinking formula, then purees. There was a time I thought he might always live on purees. But now he eats solid foods and has a whole list of favorite things with cheeseburgers and honey buns topping the list.

Today, Tommy loves airplanes, Marvel superheroes, space, and baseball. He is funny, smart, stubborn and difficult, and easily one of the most inspiring people I know. As a mom, of course I wish I could take every struggle and every pain off his plate. But I also wouldn’t change who he is for anything.

I wish I’d had a bigger support system back then. I wish there had been more awareness, more understanding, more voices saying, “You’re not alone.”

Because no parent should feel as scared or isolated as I did.And no child should be dismissed, judged, or labeled because of things they cannot control.

Awareness and understanding do matter — not just for Tommy, but for every child and adult living with 22q.We’re all in this together, learning, advocating, and loving our kids through every step of the journey.

And I am so, so proud to be Tommy’s mom.