My Baby Girl Was Born With a ‘1 in a Billion’ Syndrome & It Feels Like We Hit the Lottery

Abby Heasley

Abby Heasley
Abby Heasley

I have a daughter named Hattie, and she’s different than most kids.

Hattie Blake was born on a chilly Colorado morning in May of 2017. She was the most beautiful thing I had ever seen. My pregnancy had been fairly routine, and the birth went smoothly. After some scary respiratory episodes, some baby jaundice, and a few days in the NICU, we were on our way home from the hospital, ready to begin life with our little girl.

  • It was June now and we had soaked up every moment of our first month as a family of three.

    Abby Heasley
    Abby Heasley

    The first few weeks were a little rough but nothing we couldn’t manage. We were getting ready to pick up friends who were visiting from out of town when I noticed Hattie just didn’t look right. Every mom has a moment or two when they look at their baby and think, "Is she breathing right now?" You know how it is -- the pointless paranoia where, despite them being just fine, you still go into their room multiple times to check on them.

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  • But at this moment, Hattie just didn’t look right.

    Abby Heasley
    Abby Heasley

    Sure enough, she was a pale shade of blue and appeared to not be breathing. I picked her up and immediately took her onesie off and put her on the cold countertop, something that would certainly startle her and make her upset. No reaction. She was limp, almost lifeless. I yelled for my husband and we called 911. Less than 5 minutes later, our house was filled with paramedics and police officers. I watched in fear as they loaded my tiny 1-month old baby girl into the ambulance.

  • This was when our real journey began.

    Abby Heasley
    Abby Heasley

    After days in the children’s hospital, we learned that Hattie had been born with a significant deletion of her first chromosome, specifically, an 8.4 Mb deletion of 1q43q44, a condition called "1q43q44 Chromosomal Deletion Syndrome." It’s so rare, it doesn’t even have a formal name. After many tests, it finally revealed itself after a CT scan showed brain malformations. Blood panel genetic testing confirmed the diagnosis.

  • We had no idea what this all meant, and no idea where we were headed.

    Abby Heasley
    Abby Heasley

    All we knew was her condition was extremely rare, only 55 documented cases in the world at the time. Hattie was one in a billion, so we basically won the lottery with her.

  • I’ll never forget the week we came home from the children’s hospital.

    Abby Heasley
    Abby Heasley

    We received a plethora of mail. "Dear parent or guardian of a child with special needs," "Special needs support groups," "Benefits for children with special needs."

    Special needs? Hattie doesn’t have special needs, does she? We were shocked, and honestly a little bit in denial. But as far as we knew, Hattie seemed completely normal to us! She was all we knew because we were first-time parents. And her diagnosis was so rare, they couldn’t possibly tell us what her future would look like.

  • When you are told this type of news, the future is all you can think about.

    Abby Heasley
    Abby Heasley

    Will she walk? Talk? Go to dance class? Ever live independently? Will she ever be able to have a family of her own? It’s a strange and scary place to be -- almost a mourning period, despite not having actually lost someone.

  • Months went on, and we learned more and more about our little Hattie girl each day.

    Abby Heasley
    Abby Heasley

    She’s very small for her age, she loves music, she has the cutest smile, and is a fantastic sleeper. We eventually saw some delays in her development, but we knew Hattie was just going to follow her own little path. Every single thing she did, we celebrated. I’ll never forget the first time she reached for a toy. I quickly pulled out my phone and sent videos to all of our family and friends.

  • Being a special needs parent, you learn to soak up even the littlest moments.

    Abby Heasley
    Abby Heasley

    Hattie has to work so much harder for things that come so easily to most children. In life, you have milestones like learning to walk, hitting your first baseball, learning to drive a car, etc. With Hattie, we’ve learned to celebrate all the "inchstones." We’ve quickly learned to live in the now and to focus on today, rather than tomorrow.

  • Tomorrow will worry about itself.

    Abby Heasley
    Abby Heasley

    In Hattie’s first 2 years of life, we had 67 doctor’s visits with 14 different specialists, spent 19 days in the hospital, had around 300 hours of therapy, had around 40 needle pokes, 6 separate occasions of major seizures, had EEGs, echocardiograms, ultrasounds, catheters, central lines, rode in the ambulance multiple times, and had been put on respiratory life support. For other special needs mamas out there, this sounds about right, but this is no typical childhood.

  • Our special needs kiddos have to go through so much.

    Abby Heasley
    Abby Heasley

    They have to work harder for the tiniest things. Their lives are very fragile.

    And I’m not going to lie, being her mama is no cakewalk. I have spent many nights sobbing my eyes out, wondering how we are possibly going to make it. But when I wake up each morning and see my little girl’s smile, it encourages me to try harder for her.

  • My motherhood journey might look a little bit different than most, but I wouldn’t change it for anything. 

    Abby Heasley
    Abby Heasley

    It sounds crazy, but days in hospitals and doctor’s appointments are suddenly all worth it when Hattie giggles at something funny or when her eyes light up when she plays. Hattie is a 2 and a half years old now.

  • We still fight to keep the seizures at bay and she has therapy almost every day of the week. 

    Abby Heasley
    Abby Heasley

    At our most recent annual evaluation, we were told that her mental and physical development is comparable to a three- to five-month-old. She loves watching cartoons on Saturday mornings and cuddling with me when it’s cold outside. She likes playing with her little sister, Shiloh, and laughs when her daddy is acting goofy.

  • She has a smile that lights up a room and likes her music played LOUD.

    Abby Heasley
    Abby Heasley

    Hattie may not be able to speak verbally, she may not be able to run around on the playground or learn to ride a bike, but we have learned to avoid the CAN’Ts and focus on all the CANs. I think I speak for all special needs parents when I encourage everyone to always come up and say hi to Hattie and others like her. She might not look directly at you when you speak to her. She may make funny noises and wave her arms around. But we all just want to be included, loved, and accepted in this crazy world. And that doesn’t make Hattie so different after all.

    This essay was republished with permission and was written by Abby and David Heasley. You can follow their journey on their blog or you can follow Abby Heasley and David Heasley on Instagram.

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