Gage Lawson, born December 23, 2008
Let's start at the beginning! I found out I was pregnant at age 26, my husband and I were delighted – especially when we found out it was a boy. The pregnancy was fairly normal, I had horrible heart burn, but other than that no major complaints. Looking back on my pregnancy now though, I can tell you that Gage was not extremely active in the womb. He stayed in the same position and I knew this because there was a hard bump on the upper right side of my abdomen (just below my rib cage) and it never moved. This “bump” turned out to be my son’s head. At 40 weeks I had still not dilated or dropped, and my doctor set a date to induce my labor. First, though, he wanted to do an ultrasound to check Gage’s positioning. Gage was breech and we welcomed him into this world via c-section less than 24 hours after that 40 week ultrasound. In the hospital we had difficulties getting Gage to nurse, I was adamant that he breast feed. I tried and tried, the Lactation Specialist came in and tried to help, but Gage refused to latch. Once given a bottle though, Gage accepted it. He slept a lot – as newborns do, and hardly ever cried. Gage was a slow feeder, and never really made the transition from slow, to medium, to fast flow nipples. He would get choked easily, and he would “leak” a third of his bottle out of his mouth due to a shallow latch. Other than the swallowing issues, Gage was fairly healthy the first year of his life. However at 6 months of age my Pediatrician recommended that we see a developmental doctor. Gage was sitting up, rather well actually, but would not roll over. If Gage were to fall onto his back, he would lay there and cry until I put him back into the seated position. The doctor found that interesting – but not alarming. It would still be several months before we actually saw a developmental doctor. I believe it was around this time that the specialist appointments began. First we saw an Audiologist, due to Gage failing his newborn hearing screening. Hearing loss turned out not to be an issues, thankfully. I was concerned about Gage’s penis size so they sent me to a Pediatric Urologist. He told me everything looked fine and was functioning as it should. Gage was a chubby baby, so the doctor told me that his chubbiness just made it look smaller than it actually was. Then when Gage was about 10 months old, we saw a Pediatric Gastroenterologist, due to Gage vomiting and textural issues with food. He ordered a swallow study to be performed in two months (swallow study ended up being normal). We finally saw a developmental doctor, who suggested maybe we should start some physically, occupational, and speech therapy due to Gage’s low muscle tone. Around that time I decided that maybe Gage could handle daycare, even though he wasn’t crawling yet. When I went back to work, Gage’s health took a nose dive. Soon after, we were visiting the ER almost every weekend. He would catch pneumonia, and was diagnosed with reactive airway disease.
February of 2009, when Gage was almost 14 months old we were hospitalized, due to Gage having pneumonia and RSV. After that I quit my job, and his health immediately improved. We then saw a Neurologist, whom was of no help. However the physical therapy and speech therapy was beginning to work. At 15 months of age, Gage began to crawl! We saw the developmental doctor again, he said that he felt that it would be necessary to see a Geneticist. So we set the appointment and held our breaths. I remember around this time, researching for anything that sounded remotely close to what my son might have. Then I came upon it -49, XXXXY syndrome. It was the closest to his symptoms and I was almost positive this was the answer to all of his issues. I was immediately shot-down by the Geneticist though, he wanted to prepare me for worst case scenario – never knowing, never getting an answer. He said he would draw some blood and run a standard genetic chromosome test, but the chance of an actual diagnosis would be only twenty percent. A little over three weeks later, on a Wednesday, around 11:45, I was making a sandwich and I got a phone call. The genetic councilor asked if I had time to discuss the results – I knew right then, something was wrong. She said I was pretty much right – except he had 48, not 49, syndrome. Three X’s and a Y. We were asked to come back two days later to discuss it in greater detail and to meet with an Endocrinologist. The meetings went well, everything was explained and the resources I received there I have made available on this website. We have a long road ahead of us but I am hopeful. Gage is a bright, engaging, beautiful, and sweet little boy. His life, regardless of diagnosis, will be full of love, acceptance and happiness.
Gage at 17 months
