|Diagnosis||46,XX,der(16)+(10,16)(q24.3;p13.3) de Novo|
|City||Boiling Springs, SC, USA|
|aehinson2003 [at] yahoo [dot] com|
January 29, 2004
My pregnancy was a little rough. They diagnosed Skylar early in the pregnancy as being IUGR. Basically she wasn't growing at the "normal" rate. They gave me a lot of different scenarios as to what exactly could be wrong. But none of the doctors were really sure. They just let me and my husband know that none of what was happening was our fault. They were very optimistic and kept telling us that everything looked fine,she was just a little bit behind schedule. We also knew pretty early on that they would probably induce my labor when I was around 37 weeks pregnant.
I asked the doctor during my pregnancy if there was a chance there could be something wrong genetically to cause the delays in her growth. My obstetrician dismissed this idea and told me that there wasn't any other evidence that would cause them to think that was the case.
I was admitted to the hospital at 6 a.m. Monday morning in October of 2003. Everything went pretty smoothly. Skylar was born at 1:35 that afternoon weighing in at 4 pounds 14 ounces and she was 17 inches long. We knew when we went to the hospital that morning that there was a chance that she wouldn't be able to breathe well due to the fact that her lungs might not be fully developed. We were prepared for that. I was not prepared for what I saw after I delivered her. The doctor held her up and I was shocked at the way she looked. They had to rush her off to get her under oxygen. But shortly after they sent a genetic counselor in to speak to us and I immediately knew something was wrong. We went to the Neonatal ICU where she had been taken and when I saw her all I could do was cry. I can't even describe the way that I felt. Her little head and face was badly swollen. We couldn't hold her because she was under an oxygen helmet. All we could do was look at her with all of her tubes and wires stuck to her. It was heartbreaking. The doctor that was in the ICU that day let us know they had taken an x-ray of her heart and there was a small hole in the lower chambers. When the nurses brought her to the NI CU her heart beat was very erratic. She wasn't breathing very well on her own. But mostly they were very concerned with the way she looked. No one wanted to comment on what they thought might be wrong with her. I thought she looked like she had downs syndrome. They wanted to do a chromosome analysis to see what it showed. She was in the NI CU for a week. She would have come home much sooner but she ended up with yellow jaundice and they didn't want to release her until that was gone. She was doing very well. Soon after she came home a geneticist got in touch with us to let us know what they had found. We were told there wasn't a whole lot of information about this particular disorder, and that the cases they had found out about probably wouldn't help us a whole lot in trying to determine what was in store for Skylar. He said that there was a similarity in symptoms but the severity of the symptoms differed from child to child. So there was really no way of knowing exactly what to expect.
We have had a lot of tests ran since then. Her cardiologist said that the pin hole in her heart should eventually close up. Until then she doesn't need any medicine and it shouldn't effect her at all. There have been a couple of test ran on her kidneys. Everything checked out fine there. I think we are going to have a few more tests done just to make sure everything is running smoothly. We will just keep our fingers crossed.
We have had her eyes and her ears checked and everything there was normal. She weighed 9 pounds and 1 ounce a couple of weeks before she turned 3 months old. She loves to eat and she is very active. She has finally started smiling and she coos and makes noises all of the time. She holds her head up very well when she is on her tummy and she can roll over from front to back. We have her set up in an early intervention program where she will receive therapy once a week. The first therapy she had went very well. She does have some delays but everything she can do she does very good. I think so far we have been very lucky. We are just thankful that so far she is healthy and doing well. We all love her. She is our sweet little angel. When the time comes and things start to be more difficult we will all be there to love her and help her the best we can.