On December 15, 2003, we found out we were expecting our second child and we were absolutely thrilled! There would be only 17 months age difference between our new baby and our oldest son. We decided to make the announcement to our family and friends on Christmas morning and it was the best gift that year!
By the end of January, I began to have some difficulties in my pregnancy and my doctor ordered a sonogram. The technician kept measuring and re-measuring and we knew this was not routine. Eventually the doctor came in to tell us the results of the sonogram. He could have been speaking another language because the words and terms he used to describe what was going on with our baby weren’t making any sense. He gave us an appointment to talk to a Genetic Counselor for a more understandable explanation.
Two hours later (which seemed like a life-time) we met our Genetic Counselor. She was very kind and explained to us that our baby had a cystic hygroma (a growth on the napei of the neck). She went on further to tell us that this was very dangerous for both our baby and me, and then she advised us of our “options”. After many tears, much discussion with family and friends, and above all else - a lot of prayer, we decided that the only option for us was to have our baby.
Emotionally, the next several months were very difficult. We had sonograms every four weeks and an amniocentesis. At every turn there was more worry and wait. Eventually, the cystic hygroma started to decrease in size; everything the amniocentesis tested for came back negative; and things seemed to be looking up. However, we never let down our guard.
Then on July 31, 2004, (37 weeks gestationi) I gave birth to a beautiful baby boy who we named Austin. He weighed only 5 pounds 10 ounces and was 19 inches long. Aside from having low blood sugar, Austin seemed to be healthy.
Within a couple of weeks of being home, we started to notice that Austin wasn’t progressing “typically” and then by the time he was 8-weeks old, he was hospitalized with pneumonia. This hospital stay ended up happening during one of Florida’s 2004 hurricanes, which worked to our advantage. The entire hospital was in lock-down, so we had our pick of doctors who couldn’t leave the hospital. I took this opportunity to express my concerns of Austin’s lack of development and a parade of doctors made their way in to run tests and give opinions. They quickly agreed, and it didn’t take long before they sent in a Geneticist. This Geneticist happened to be very knowledgeable in Kabuki Syndrome and was able to diagnose Austin within 30 minutes of meeting us.
Armed with a diagnosis, I began research right away and found The Kabuki Syndrome Network. Along with guidance from our doctors and advise from my new KSN family, the next year was a series of tests, surgeries, and therapies. That first year also included a lot of illness and hospital stays. I really think that year was the hardest.
I can’t say that the years that have followed have been smooth sailing but as Austin gets older and stronger, he seems to be generally healthier overall. But even with that said, at 4 ½ years old, Austin’s medical file is bigger than most adults’. He has had a number of diagnosis’ such as cystic hygroma, IUGR, sacral dimple, Kabuki Syndrome, psuedoarthrosis of the right claviclei, low tone, hypotonia, failure to thrive, aspirationi, asthmai, pneumonia, and many more. He’s had numerous tests that include a sonogram of his spine, a sedated MRI, 2 EKG’s, a renali sonogram, and multiple swallow studies. He has also undergone 7 different surgeries that include 2 g-tube surgeries, 3 sets of ear tubes, a chalazioni removal, and a pyogenic granuloma removal. In addition, he has had physical therapy, occupational therapy, speech therapy, language therapy, and intense feeding therapy, which was a month-long live-in program. His network of doctors includes his pediatrician, geneticist, pulmonologist, cardiologist, ENT, ophthalmologist, and gastroenterologist. To help remember and track all of this information, we’ve created and maintain our “Austin Bible”. It is a 4-inch 3-Ring binder with dividers, full of all of Austin’s medical information. We take this with us when we meet a new doctor. I have to admit, they’re always impressed when we flip to the section of this book and quote a date of a procedure or hand them the written results of a test. We will forever “be on our toes” for new developments and ailments we need to research and familiarize ourselves with, and this book helps us keep track of it all.
Most important in Austin’s story is to tell you that he is an amazing child with gorgeous eyes and an incredible smile. He is so charming and outgoing, we joke that he is running for Mayor. Even strangers in the grocery store fall in love with him. Austin attends school in an ESE Pre-K class and does really well. He can say his ABC’s, count to 20, identify objects, follow multiple-step instructions, and sing all of the words to most children’s songs. Austin loves World Wrestling Entertainment and can name every wrestler just by hearing their entrance music. He idolizes his big brother, Travis, and wants to do everything he does. He has unlimited energy and never stops talking!
Austin has proven to be a determined little fighter since the beginning. He has taught us faith and allowed us to be witness to countless miracles. Although his life, and ours, still have many challenges ahead, we wouldn’t change a thing.