Sunday, December 30, 2007

My Lottery Baby

My Lottery Baby

At sometime in your life you have had the lottery conversation “What would you do if you won the lottery.” People say they would take care of friends and family, buy a big house, fill their driveway with cars, and take luxurious vacations, etcetera. The thing here is that I don’t play the lottery. Ok, well sometimes, maybe once a year. My husband and step-father on the other hand, play all the time; especially, when the money is really big and no one has won in a while. You will soon understand why this is now so important to me.

We got pregnant so fast. My pregnancy was going great and I felt great. During the first ultrasound we found out three things. We were having a daughter, she looked very healthy, except that she had bilateral (both) clubfeet. We weren’t alarmed because I was born with the top of my right foot squished up to my ankle. My mom also had true bilateral (both) clubfeet. We both had a series of castings with orthotics the first months of life and we walk and run normal now. We were sent to the Maternal Fetal Medicine to make sure there were no other problems. A day I will never forget and my first real experience with the medical industry.

They confirmed her clubfeet and wanted us to have a fetal echo ultrasound on her heart to make sure it was healthy too. After talking to the genetic counselor, my husband and I were completely freaked out at the statistics. They recommended an amniocentesis and the fetal echo. We refused and left. “What will be will be” and we decided to wait until her birth to see if she really had anything wrong. We didn’t want to speculate about the possibilities.

Sadie Elizabeth was born April 7, 2005 at 12:35pm. Normal birth. Normal size baby. She weighed eight pounds, one ounce and was twenty-one inches long. Other than a stork bite on her forehead, she looked healthy. At 8:00am and twenty hours old, the hospital pediatrician came and told us that she hears a murmur. She proceeds to tell us that we are being immediately discharged and we are to drive to the Children’s Hospital in our area so that Sadie can be seen immediately by the Cardiologist. This is truly the beginning of our journey. Turns out Sadie had a few holes in her heart. We heard the big words “congenital heart defects” and we felt lucky to have a super doctor who explained everything to us. Sadie has an ASD, VSD, and pulmonary stenosis. At the time, the hole that is supposed to close at birth hadn’t closed yet. We were sent home with reassurance that they were moderate size holes and the most important thing was that she gain weight. We are now on a yearly visit schedule and the holes are small.

Sadie had her first set of casts at 4 days old to correct her clubfeet. The castings were causing pain and swelling and at 7 weeks she had heel cord lengthening surgery. We continued casting and she wore the shoes with the Dennis Brown bar.

Despite all that she was going through with her feet, she was always an extremely happy baby. She rarely cried (except on the days she was casted). She always babbled, cooed, smiled and giggled. She was a snuggle bug and we would always nap together.

She was on the slow side of gaining weight; unfortunately, breast feeding didn’t work out for us. She was put on high calorie formula and her growth curve was going up. She grew so much in length, but slow to grow in weight. She has continued to stay in the 75 to 90 percentile for height and 5-15 percentile for weight.

Feeding has always been rough on our family. Sadie has reflux and will throw up if she is not on her medication. She also doesn’t show signs of being hungry or thirsty. We think this is the opposite of Prader-Willi syndrome. We think her stomach isn’t telling her brain to eat. We didn’t notice this until she was older because I always kept her on a routine. I predicted when she should be hungry or thirsty and then I would feed her.

Sometime around nine months, we really were expecting Sadie to start moving around more, and we kept blaming her low muscle strength on wearing the shoes with the bar. We felt that was limiting her ability to explore her world and to gain strength. Weeks passed and at 11 and a half months we decided to take the shoes off permanently to see if she improved. To our excitement, she started crawling about a week after her birthday. A few months later she pulled to stand. We still felt like she was in the normal functioning range, on the late end, but none-the-less still within the “normal” range of time.

Around 15 months, feeding became a bigger issue and there were still no specific words with meaning. We were starting to get concerned. She had no desire to self feed and it was like playing the game “here comes the airplane” for each bite. She started refusing to take food from anyone other than my husband or me.

Despite the feeding problems and slow gross/finer motor development, Sadie continued to be the happiest baby; I thought she was so smart because she showed no interest in television. She smiled and laughed all the time. She would just hang out in my lap.

At 18 months, she hit a plateau with her walking. She continued to only cruise from one piece of furniture to another. We started seeing a physical therapist, who suggested there might be more going on and that we should see a neurologist. At 20 months we finally saw a neurologist and he ran tests. He warned us that it would take weeks to get the results. I knew in my gut they would find something, but I didn’t know what. Her development had plateaued.

That’s when I got the phone call that she had something wrong with her 8th chromosome. He didn’t have any answers and I had all the questions. He said it didn’t have a name and that it was rare. We were referred to the geneticist and genetic counseling. I was four months pregnant with our second daughter and worried that our chromosomes may have been passed on to her.

The geneticist gave us as much information about the missing genes as she could and ran further tests on Sadie, my husband and me. Sadie’s karyotype is 46,XX,der(8)t(X;8)(p22.13;p23.3) and she is de novo. In simple terms, she has a deletion at 8p23.3 to the end with extra Xp22.13 added to the missing piece. She says Sadie will tell us in time about how her chromosome will affect her.

Other than her global delays, acid reflux, minor heart defects, she also had eye surgery for strabismus June 2007 and she just had her second heel cord lengthening and tendon transfer on both feet in September 2007. She will be wearing DAFOs after her casts come off. Feeding is a quite a chore, we wish she had a love for food like we do. She also has sensory problems and has quite a high tolerance for pain. She is starting Preschool Special Education two days a week in October 2007. She will get OT, PT, and Speech at school.

Sadie is a happy and healthy toddler. She has eyes full of soul and blue as the sky. She lights up many people with her giggles and squealing laughter. I say she is a lady of few words and I long to hear her say “I love you mommy” and even though she can’t say it I feel it in her hugs and see it in her ear-to-ear smiles. My husband says that in spite of her delays that the world if full of “normal” jerks and we are very lucky. I tell him that is true and I truly feel lucky. I call her my lottery baby. There is no one just like her and I know that I won. She has made our life so full of love and joy. She now has a “normal” sister, Shelbi, who was blessed with a sweet heart and smiles too.

Lisa [mom to Sadie 46,XX,der(8)t(X;8)(p22.13;p23.3)]