Wednesday, March 31, 2010

The Diagnosis is Williams Syndrome


This is my beautiful baby girl. Today I got her genetic test results back and it is confirmed she has Williams Syndrome. Although she does show some physical features, she does not carry any of the symptoms. To me, this just makes her even more precious, I loved her the moment I knew she was inside of me and I will love her until the day I'm gone. This is supposed to be the happiest time in my life but instead I'm scared to death of whats to come. Not scared to take on the role of motherhood to a special needs child but scared of all the bad pepole in this world. These kids are so excepting and loving and OVERLY friendly, How d I kow some sick creep isnt going to take advantage and hurt my child? Will she know the difference between good and bad, right and wrong? Will she be able to say no if someone hurts her? I'm new to this and I need HELP to understand what will happen next. If anyone can help me please do! This will be my mental break, This will be where I write my day to day with my beautiful baby girl. This will be where I can hopefully learn how to be a good mom to an exceptional child and love her more than anyone will ever know.
I can't bring myself to go through the entire definition of Williams Syndrome, I've been crying for the past 12 hours. Please follow the link above for now.

Meet Layla

This is our baby girl Layla:) Born 2-8-2010 at 5:18pm at just 5lbs 7oz. Screaming from the minute she was born.

My husband was amazing!!!!! Having her made me realize how much I love him. I couldn't do anything for myself or for the baby. The first day I was completely numb from the waist down, and after that I had a nerve stitched into my scar. FUN!!!! I was in sooo much pain but my husband took over and did everything for me a Layla in and out of the hospital.

When they sent us home from the hospital, they scheduled us for an appointment with a Yale Pediatrics Cardiologist. So she went for another Echo and to meet with the Cardiologist Dr Weeks. She explained that our little 5lb baby had a VSD ( hole in the septum of her heart) Valvar Pulmonary Stenosis and Supervalvar Pulmonary Stenosis. She said it probably would just need to be watched over the years and to come back in two weeks. So we did and they did another Echo. This time the doctor sounded a little more concerned but still said they were pretty sure the Echo was overstating the pressure in Layla's heart. Come back in two weeks........So we did and again it was worse. Now they want to do genetic testing and schedule her for a cardiac catheter, come back in a week to meet the Dr and Anesthesia Dr's that will perform the procedure. GREAT! So last friday I went to meet them and sign release forms, the doctor saw that I was visibly upset about having to wait on results from a genetic test, so he had the blood drawn that day.

Now my heart is racing and my little girl is going to get answers but do I really want to know???

The Start, The Pregnancy


My husband and I met when I was 15. Go figure, 14 years later we'd be married with a baby girl. Though we had known eachother for so long, we lost touch for about 4 years. Then one day throught the magic of facebook and his then roomate in the NAVY, he found me. 5 months later I found out I was pregnant, about 2 weeks after that, we were married. Not the fairy tale wedding every girl dreams of, but I was happy! We were starting a family, the one thing I've always wanted, someone would call me mommy soon.
At first the pregnancy was NOT fun, vomitting and constant nausea, but then the reality of this little person inside of me hit. I felt this odd rolling in my stomach at work one day and quite honestly was grossed out. That was the first time I felt her move, that was the point I think I really turned into a mom. At 18 weeks I found out the sex. My husband was still in Virginia so he found out via telephone thanks to my friend Carol who joined me for some doctors appointments. The Ultrasound tech went through and checked the baby from head to toe. When she was ready to tell us the sex, Carol asked if I wanted to be on the phone with my Husband, I said no because I didnt want to hear him get dissappointed if it was a girl (It was sarcasm). No sooner did I say that, the Ultrasound tech said the baby looked wonderful all its parts were there and it was a healthy baby girl. We cried, my husband asked if the baby was healthy and went on to call family with the news.
Everything went pretty good from there.......with the exception of migranes and heartburn :( I only gained about 29 lbs, Which I thought was great. That is until 1 week before my due date. One of the Doctors measured me and said I seemed small. He then did an ultrasound to see the baby was measuring about 5 weeks smaller than normal. From there he sent me to YALE for a more defined Ultrasound, and they found that I was measuring small, but I was reassured that everything was fine.
I was induced on February 8th 2010. The contractions weren't bad until they broke my water!!!!! Holy C*&P!!!!!! I was in active labor for about 2 hours and dialated about 3 cm. when the doctor said I could FINALLY have an epidural. Ahhhhhhhh Relief...........Until about and hour later the nurse came in to check on the baby's monitor and said her heartrate was dropping with each contraction. She left to call the doctor and within minutes she was in my room telling me we were going in for an emergency c-section. This was NOT part of my plan! I was so scared and all I wanted was to hear my daughter cry. She was born about 20 minutes later at 5:18pm, and hasnt stopped crying yet.
So then...........your basic hospital stay with a c-section. Vistors, presents, my hubby and our brand new baby girl Layla Annabelle. Doesnt get much better than that. A few days into our stay at the hospital they said Layla had a heart murmur. Ok no big deal, until they asked me to sign a release form sending her echocardiagram to YALE Childrens Hospital. Thats when it all began.

The Diagnosis