This is my story, Coldon’s diagnosis of Down Syndrome (DS). I will refer to Down Syndrome as DS quite a bit. It is appropriate and accepted in the DS community.
We didn’t know until our triplets were born and later with genetic testing confirmation, that Coldon, baby A had Down Syndrome. I went through all the genetic tests available for blood testing while pregnant, however triplets caused me to have a high risk pregnancy, so amniocentesis was out of the question. The test results came back without indication of genetic mutations in the fetuses or myself, but we did learn I was a carrier for Cystic Fibrosis. We chose not to do any research or further testing, as we decided if any of the babies had Cystic Fibrosis it was in God’s plan for us and typically, a heart defect is the common indicator for DS and many other genetic disorders. Coldon had a healthy heart and he was equally active as Ella and Greyson, so there were no indicators in any of our many anatomy scans, for the doctors to become concerned.
As I was lying on the OR table, the Neonatologist, came to my side and asked if we were aware baby A might have Trisomy 21. This was the first time I ever heard of Trisomy 21. I felt like it was a little improper to tell us something like this in the OR, while my doctor was completing my surgery. Aren’t you supposed to be in an office with the door shut and the doctor being empathetic and holding tissues for you if you begin to cry??? This was definitely not how we were told. However, Jay later told me he knew something was up when they were pulling Coldon’s legs together and they would flop back down and the medical team began talking amongst themselves. He wanted to know what was going on and the doctor knew Jay was concerned and aware, so he decided to talk to us then instead of waiting for the office, closed door and tissues.
We were informed right after delivery, Coldon had a large gap between his big toe and index toe, indicating “Sandal foot,” a single crease in the palm of his hands and Hypotonia, low muscle tone. These are all “soft” indicators of DS. The doctor reassured us nothing would be confirmed until after genetic testing was run and completed. There were a myriad of tests ordered for Coldon, but not Ella and Greyson. Most importantly, aside from the specific genetic tests were an Echocardiogram, EKG and x-ray of his lungs. All of this was a blur for me. There were so many things going on and different medical staff coming to me with what felt like a never-ending amounts of questions and information. I don’t even remember when these tests were completed. All I remember was during one of the many doctor’s rounds in the NICU, they made sure we knew Coldon had a healthy heart and they mentioned his Aortic Arch was textbook perfect. I thought, ok that’s great… every new mom wants to know their baby has 10 fingers, 10 toes and healthy heart, right? Coldon had the cutest feet ever and was a little more floppy than Ella and Greyson… Well, little did I understand how incredibly important a healthy heart was for a child with DS.
Later, while in the NICU, we received the confirmed genetics test results; Coldon did in fact have Trisomy 21 throughout every cell in his body. (There are actually three types of Down Syndrome. More on that later.) Like I mentioned earlier, Coldon’s diagnosis didn’t ever really sink in, until recently. The last year has been a blur to me and I haven’t had time to put much thought about Coldon having DS or a need to think about it. As a triplet mom, we tend to focus on keeping them fed, healthy and alive… can’t sweat the small stuff! Well, as the triplets are getting older, I’m slowly gaining time and as Coldon develops into a toddler, he is starting to exhibit behavioral characteristics of DS, so now I have the need.
Coldon has a myriad of complications from his diagnosis and he’s going to have them for the rest of his life. He’s also going to live a shorter life. Thankfully the average life span is longer than it was when we were babies, but it’s still an average of 60 years. Some of the first things I thought about when I we received his diagnosis were about his future. Will he be able to have a girlfriend, get married? What about children… it isn’t fair to take that away from someone. I started reading other peoples stories, moms of individuals with DS, individual people with DS and families of individuals with DS. The most important message I have taken from the hundreds of stories I’ve read; your individual child will do as much as you teach them, push them and encourage them to do. For this reason, we expect the same from Coldon as we do from Ella and Greyson. There are some circumstances we treat differently, but we do not treat Coldon differently.