I wrote this story about 4 years ago about my experience with Kaylee during pregnancy and afterward.  I wanted to share it with my 11q family.

*** I was encouraged to write about my precious girl by my best friend (thank you) I feel so blessed to have been chosen to have an angel like her.

By now, we are used to the sideways glances and blatant stares by both children and adults. You would think my daughter had 2 heads and tentacles for arms by the way people stare at her. Sometimes I ignore it; sometimes I stare right back at them until they make eye contact with me and quickly look away. I guess that’s the way of the world. She has no idea that people are staring, nor does she care. She is beautiful, happy and the greatest gift that I have ever received.

My daughter, Kaylee, was born in September 1998 by cesarean section. Up to the moment of her birth, we had no idea that anything was wrong with her. Ultrasounds were normal, and we were thrilled. My own little bundle of joy to coddle and love. I was ecstatic!
Her due date was September 23rd. September 23rd came and went, and still no baby. I went to what I hoped was my last OB appointment on September 30th. We found out that she had turned around and was now in a breach position. She was a small baby, so the doctor said she had plenty of room to move around and was basically turning somersaults in my stomach. She went ahead and sent me to the hospital to finally bring her into the world. They predicted that she would turn around once I was on Pitocin and everything was going to be fine.

The drive to the hospital was filled with joyous phone calls and nervous chatter. I couldn’t believe the big moment was finally here. I got checked in, put into a room, IV started, and they started the Pitocin. Everything was going smoothly, until the doctor came in for the exam. The good news was that she had turned around head first. The bad news was that the umbilical chord was around her neck so it was decided that a cesarean section was the logical answer. At this point, I was nervous and scared for my baby.

Laying on the table in the OR and waiting for them to get her out felt like an eternity. I could tell the moment they pulled her out and saw her that something just wasn’t right. The air seemed to go out of the room, and I thought I was going to pass out. But, they wrapped her up and brought her over for me to see her. To me, she was the most beautiful baby I had ever seen. She was so tiny. Only 6 lb. 1 oz., and 18” long.

I was sent to recovery for what seemed like forever, but was really less than 2 hours. I was moved into a room and waiting anxiously for her. When they finally wheeled her in she was in an incubator, and I wasn’t allowed to hold her. Only reach through a hole in the side and touch her. She had petechiae all over her body. They were small purple bruising spots the size of pencil lead. I remember just wanting to be able to hold her, but she was being transported to the University of Kentucky Children’s Hospital. That’s when the hardest part started. I was stuck in a hospital 30 miles away from where my baby was being taken. I had just had surgery and wasn’t allowed to leave the hospital until I had recovered. She needed me, and I needed her. It broke my heart when they wheeled her out and I knew I wouldn’t be able to see her for 2 days until I was released from the hospital.

Those were the longest 2 days of my life. I couldn’t wait to get to see my angel again. Finally the time came and we went straight to the Children’s Hospital. There was my little precious girl, in an incubator, under a jaundice lamp, with coverings over her eyes and an IV in her head. I couldn’t stop the tears from flowing down my face. I was told that they weren’t sure what was wrong with her, but had taken blood and had started running test after test. Her heels were bandaged up where they had to take a razor blade and slice them to get blood for the tests. The IV was in her head because they couldn’t get it in here small veins in her arms. I vividly remember the first time I got to hold her…getting all the tubes and wires out of the way so I could situate her in my lap to feed her. I would just sit and hold her and stare at her, and fall more in love with her by the minute. Days later, she was finally done with the jaundice lamps and was placed in a regular bed.

I would have spent the night there if they would have let me. I would get up in the morning, stay all day, and come home late at night. I hated when I had to leave her at night. We had multiple conversations with neurologists, cardiologists, and geneticists. I had 10 tubes of blood taken to run a barrage of tests to see if it was genetic.
Finally after 6 days in the hospital, it had a name. Jacobsen’s Syndrome or 11q terminal deletion. I had never heard of Jacobsen’s Syndrome, and neither had almost anybody else. We were lucky to get her diagnosis so early. Some people find out years later what their children have. It was a relief just to have a name to put with it. After 10 days in the hospital, they released Kaylee to come home with us. She was eating well, gaining weight slowly, and there was nothing else they could do for her in the hospital.
We left the hospital without really knowing what was going to happen. Would I be able to take care of her? Was I capable being a good mom to a child that was “different”?

I soon realized that I didn’t have anything to worry about. She was a fantastic baby. She ate well, slept well, and was adored by everyone in the house. We had regular doctor appointments to check on her progress. When she was around 7 months old, it was recommended that she start physical and occupational therapy. We started going 2 times a week, but I couldn’t see that she was making progress. She cried the whole time and so we stopped going.

For the most part, Kaylee is very healthy. She has Paris-Trousseau syndrome, which is a bleeding disorder. Approximately 90% of kids with Jacobsen’s Syndrome have this. It can cause abnormal bleeding and easy bruising. She bruises easily from bumping into things or falling down, but her blood clots well enough that it’s not a major concern anymore. She has had strabismus surgery two times. Strabismus is a disorder where the eyes do not line up correctly, resulting in crossed or lazy eye. She had to have the muscles tightened in both of her eyes and although they are not perfect, it has helped tremendously. She has a heart murmur, and goes for an EKG and Echocardiogram every couple of years to check everything out. Congenital heart disease is present in about half of all diagnosed Jacobsen Syndrome kids. We feel very blessed that so far she has not developed this complication, as it can develop later in life. Kaylee has occupational, physical and speech therapy at school.
She is currently in the 5th grade. To say that she loves school is an understatement. She is constantly signing “school” and is ready to go back as soon as she is picked up. She loves her teachers who have been fantastic in setting goals for her and helping her to achieve them. We’ve had a few rough spots a time or two, but overall her elementary school experience has been wonderful. She will be going into the 6th grade the next school year. I am anxious, scared, excited and sad. I can’t believe that my baby is going into middle school. She will be perfectly fine, but we are freaking out about it.

I feel so blessed to have Kaylee in my life. She has made me a better person without even knowing it or trying to. She is the sweetest, funniest, most loving child a parent could ask for. I never get tired of her giving me “squeezes” and wanting to ride on my back to go upstairs to brush her teeth and get ready for bed. She loves her blankie, chocolate milk and Dora the Explorer…or as she calls it “Backpack Backpack”. I look at her sometimes and tears well up in my eyes just thinking about how far she has came in her 11 years, and I wouldn’t change a thing.