Wednesday, March 1, 2006

You mean there is more? IMPOSSIBLE!

So we finally met with the geneticists again and were given yet another shock. It seems that William's microarray revealed additional information. The Trisomy 18 was confirmed and it was once again found in about the same percentage ~25%...but they found more. HAhahaahahaha! Yeah, what more could they have possibly found? What could be worse? Well, I suppose this isn't worse, just more rare. It seems that the 75% of the cells that have the 'normal' number of chromosomes, also happen to have an extra segment on the X chromosome. Um ok... Well, the way it was explained to us is that this leads them to believe that William has not 1, but 2, yes 2 cell lines. The term used was: chimera Essentially, early, very early on in the embryo creation process, 2 fertilized eggs fused together and became 1 egg. William, therefore, has 2 different cell lines, so he could potentially give 2 different DNA samples.

Tom has made many, many jokes about how he could maybe make some serious money in Vegas and get away with it if they had to do DNA testing or some such. Talk about an amazing little man!

Tuesday, February 14, 2006

Pneumonia #1

William was born with 2 tooth buds that really confused the doctors. Actually, several dentists too... A few days after his birth, a tooth began to emerge from one of these floppy little pieces of skin where his bottom front teeth would be. It was decided that it had to be removed so I took my 2 month old, probably 7 lb baby to the recommended Pediatric Dentist. After they 'removed' his tooth bud and brought me my screaming baby, I noted funny breathing. They noted it too and decided to call 911. Away we went to the ER and it was determined that he had developed aspiration pneumonia. We were taken from Clear Lake RMC to TCH again via the Kangaroo Kare where we enjoyed Valentine's Day on the Pediatric floor. William stayed a few days and was given a sleep study. They decided he had apnea and sent us home with oxygen for during naps and nighttime.

He did NOT like the mask at all!

Why didn't they look at his adenoids or suggest removing them and/or tonsils at this time??!! More on this later...

Saturday, January 21, 2006

Trisomy huh? Trisomy 18? Mosaic? What?

William's testing showed unusual & rare results. He apparently had an extra 18th chromosome in about 20% of his cells. They had done the test on his blood and that's what they discovered. They rarely saw this. Babies with Trisomy 18 don't live past a year, they told us. They were sorry but since William only had the extra 18th chromosome on 'some of his cells', AKA Mosaic, they really couldn't tell us anything at all about William's outcome.

The official diagnosis: Trisomy 18 Mosaic

They told us so little about Trisomy 18 that we googled it. That was a mistake, for the most part. Everything you read is horrible. Tom & I quit reading and continued to go to the NICU. I also refused to believe it. I asked them to test again! I was told by a nurse that someone came by one morning and took a cheek swab from William. I called the geneticists and asked them what that was. They told me that because I requested a second test, they decided to do a microarray test this time. Um, ok. Weeks passed and we never heard the results. William came home and he ripped out his NG tube and continued to grow.

Saturday, January 14, 2006

Spencer & William...the early days

Spencer was a great baby. He ate and he slept and seriously, he rarely cried. We tried letting him sleep in the bassinet in our room but he made wayyyy to many noises at night. He may have missed his brother, but he was A-OK in his crib. He didn't complain about anything!

William stayed in the NICU. Each day, Tom & I took turns going to/from the hospital (30 min each direction). They tried to teach him to such but, in hindsight, they didn't try that hard. They began to talk to me about his reflux issues. Then, they placed a feeding tube in his nose (NG tube) and began to finish his 'feeds' via the tube, when he didn't finish a bottle. We lived via the nurses notes about how many ounces he ate on his own vs the tube. They began to talk to me about placing a G-tube and doing a Nissen Fundoplication for his reflux. Well, I googled both and didn't like the sound of the Fundo. In fact, Consumer Reports had a 'top 10 list of procedures to be avoided' and it was on the list. After a few days though, William was doing better eating and we seemed to be good with the NG Tube at the moment.

About that time, we were told that they would like to perform genetic testing on William. They felt that he had a couple of unusual character markers (lower ears, something weird with his thumb that I never understood and an ASD). I said, "No problem" because I knew my baby was perfectly fine. In fact, a few days later when the genetic department called for a meeting, Tom was there and I said he could go alone as I was sure it was just to tell us nothing.

I was wrong.

Tuesday, January 10, 2006

William goes back to the NICU

We could keep William warm but we couldn't get him to sleep. We also couldn't seem to keep him from screaming when he ate. His suck was so weak, as it seemed, were his muscles. Compared to Spencer, he was a rag doll. At their 2 week check up, the doctor prescribed Reglan to William for reflux. After one dose, where admittedly, I didn't measure it right, William turned blue while he was eating. It was about 630pm and we obviously freaked out. Luckily, my mom was visiting so that when the Pedi advised us to go to Texas Children's, Tom & I both were free to go.

It's very difficult, if not next to impossible, to be RE-admitted to the NICU, once you're discharged. However, they'd never met William. When we arrived and saw the crowded NICU, we were really concerned. We had a newborn! Well, when the admitting nurse saw William's limp little 4 pound body, he was quite concerned too. We were called back immediately and they began running test after test. He screamed and screamed as they tried drawing blood from his teeny tiny veins. Then came time for the spinal tap...uh huh. And are you aware that Texas Children's is a teaching hospital? Yup, someone practiced doing a spinal tap on my poor, tiny little baby. She tried 3 times. He screamed his high squeal and Tom & I cringed helplessly. Finally Tom requested someone else & It was done quickly. He passed all tests and sometime in the middle of the night, he was admitted back into the NICU. Exhausted, he finally slept and we were told that we should go home and return early the next morning. It was obvious that he was in the best hands and we did have another baby at home. Reluctantly, we left...