Hello! Welcome to our story of becoming involved with The Chromosome 18 Registry & Research Society. 
My name is Cristi and I have been married to my high school sweetheart, John, for 23 years! Just 6 days shy of our 10-year anniversary, we welcomed our first-born child, John “Hardy”, on May 6, 2011. It was a mostly uneventful pregnancy up until 38 weeks, when an ultrasound confirmed there were growth restrictions. For the next 7 days, I had a series of biophysical profiles to check a multitude of things and at any point, I may need to deliver him should I ‘fail’ any of the tests. Fortunately, we made it another week before delivering via C-section at 39 weeks.
Initially, all signs pointed to a healthy baby boy. But less than 24 hours after birth, Hardy was struggling and was ultimately admitted to the NICU. Our journey to parenthood quickly changed paths. For us, we were fortunate that the neonatologist was quick to suggest genetic testing to confirm some suspicions he had of a potential chromosome abnormality. That test, along with additional tests a few months later, confirmed that our baby boy in fact had a genetic abnormality. Initially we were told it was rarer than rare, if that is even possible. Trisomy 18p was the diagnosis. In those early days of figuring out what on Earth this meant, we were graced with an amazing geneticist. He showed us his gigantic medical textbook, flipped through a few pages, with those pictures of young children, black bars across their eyes in hopes of disguising their face, and then closed the book. He looked at us and said, “I will not tell you what Hardy can or cannot do. He will show you as he grows and he will write his own story.” Admittedly, at first, I was stunned. How could a physician specializing in this not be able to tell us what to expect. A day or so later, it hit us. And we appreciated those words more than anything any doctor could ever say, even some 13 years later. That geneticist refused to put a label on Hardy. He refused to count him out. He knew that he had no reliable information in that 1960’s medical book to accurately predict what Hardy would or would not do as he grew. He told us that day that Hardy is capable of what Hardy can do. And he will show us as long as we give him the opportunity. To this day, our family motto is “we don’t know he can’t do it until we give him the chance to DO it.”
Hardy is now 13 (a teenager!!), and he is amazing! While he does have struggles, delays, and various diagnoses, Hardy remains an extraordinarily happy kid. His ability to make even the grumpiest of people smile is maybe my absolute favorite gift about him! His fierce determination in everything he does is undeniable and he exudes joy like no other. Hardy’s hugs are THE best hugs ever and he is never short on handing them out!
In 2013, we welcomed our second baby boy, Newt, followed by our third baby boy, Woodrow, in 2017. Yes, I am outnumbered, but I cannot imagine not living in a house full of boys! It’s equal parts nerve-wracking and excitement every hour of every day. The choice to have more children after Hardy was the best decision we could have made. The relationship between my boys is the best. They have learned so much from each other and have a tender, brotherly love that I cannot explain. Sure, they have curiosity about all that Hardy brings to our family, but they are equally as helpful and understanding in the most caring and compassionate way.
Our journey to being parents definitely took an unplanned path – with mountains of paperwork, multiple trips to doctors only to leave one appointment with a referral to another doctor, and spending unthinkable amounts of time researching such a rare syndrome – but the changes in perspective of what matters have been worth every ounce of sleepless nights, every tear shed, and the dreams that were shattered. Because when old dreams die, new dreams are born, and are often more than you could have ever imagined to start with. One of those dreams was to find ‘our people’…those that truly get our child, our challenges, and us. And we did! The Chromosome 18 Registry is and continues to serve as our people!
We located The Registry just a week after their 2011 conference was held. Talk about being bummed out! Our first conference was 2012 in Texas. It was heart-breaking and heart-warming, all at the same time. We found our people and haven’t looked back! John and I cannot express how much it truly meant to us to see other families, other children – those affected and siblings, and even older teens and adults, that were living their BEST life, despite facing similar challenges that Hardy was enduring. It gave us hope and joy and life – assurance that we WOULD be okay. Would it be hard? Absolutely. Would it be worth it? You bet!
My prayer for those of you facing a newly discovered diagnosis is that you know you will be okay. It will be different, no doubt, but know that you are stronger than you even know, and so is your loved one. We are here for you as part of the Tetrasomy 18p family – we will celebrate the ‘inch-stones’ and walk with you during the hard times. Please never hesitate to reach out. There is always someone willing to help!
Many blessings from Alabama!
The Cains - Cristi, John, Hardy (13), Newt (11), Woodrow (7)
