Noah's Story

Noah Immanuel is our 11 month old son. He is our first and only child together. Lee (mommy) has 5 older children from a previous marriage, and Bob (daddy) has 2 older children to a previous marriage.

My pregnancy had problems from about 27 weeks when I developed PUPPP. This is a pregnancy induced rash which is caused by the mom being allergic to the placenta. I hadn't experienced PUPPP in any of my previous pregnancies, even though it usually occurs in a first pregnancy rather than a subsequent one. At 29 weeks gestation pre term labor began. An emergency trip to labor and delivery followed. Eventually we were successful in stopping the contractions. Brethine every 15 minutes for an hour by injection that night, followed by ongoing oral treatment until the day He was born.

Because of a lack of fetal movement, and not much weight gain, we started looking more closely at my pregnancy. My doctor ordered non stress tests and biophysical exams. We discovered that Noah had IUGR/SGA. We also discovered there was high blood pressure from the placenta (which was smaller than normal) to the baby. The cord was also around Noah's neck, and he was presenting as a footling breech. At 36 weeks it was decided that he might grow better on the outside, so he was delivered by C Section. I asked repeatedly if he was OK, because he didn't cry. Shortly thereafter the neonatologist congratulated us, told us our son was healthy and fine, and going to the regular nursery. He weighed 4 lb 5 oz and was 16 inches long. I had received the steroid shots at 32 weeks, and he didn't have any breathing problems at birth. We were so relieved, and pleased with how perfect he appeared, considering he was premature.

I suffered some complications from the anesthesia, so it was a few hours before I got to be with Noah after delivery. During this time his blood sugar dropped, so he was given glucose water, and it resolved. When he was finally brought to me I wanted to breast feed immediately. This is when we discovered Noah could not nurse. He didn't try to latch on. When I would manage to get him on, he would fall asleep and didn't get any milk. Noah also developed temperature instability in the regular nursery, so he was moved to NICU to spend time in the incubator. It was there we found out that he also was having Bradicardia and apnea, which is common in preemies. He took Caffcit to keep him from having bradies. He also developed jaundice, and spent 24 hours under the bili lights. He came home at 2 weeks of age on the monitor. (We used that for 4 months.)

At a routine follow up with the evaluators from NICU babies at 6-7 months old, they therapist told us Noah was developmentally delayed. She thought Down syndrome was possible, and informed our pediatrician we should have genetic testing performed. It took a couple of months to get into the Children's hospital to get his testing done. At 9 months old, he was examined and tested. The doctor thought perhaps he had Prader Willi syndrome. But, when the test's came back, we discovered his Karyotype was XXXXY 49.

At this point, Noah is 11 months old. He has one tooth on the bottom, and another wanting to pop through. He can roll from tummy to back, and back to tummy. If we sit him up he can sit there a while unassisted, but he loses his balance and falls backward easily. His hypotonia is mostly in his arms, and somewhat in his trunk. He can babble a little bit. He says "mama" and "baba", but I don't think he relates the words to anything, really. He likes to vocalize,and we hear mostly vowels sounds from him. He is currently over 16 lbs and almost 26 inches. We hope to start testosterone therapy soon to replace the surges he already missed.

UPDATE: Jan 29, 2005:

Noah is now 16 months old. He weighs 20 lbs and 8 oz. and is 28 1/2 inches tall. He is taking to pureed foods which he can self feed quit well. He likes his veggies with real butter.

His therapies for ST, PT, and OT are on a weekly bases. He seems to care for all his workers, and likes to share a bit of cuddle time together even. He does well in play group. In speech we are beginning to introduce baby signs. He does his exercises well, and just has a great time trying new things.

He is crawling well. He likes to sit himself in personality poses.

He has finished up his neo natal testosterone therapy. He will resume it when he is 11 years old approximately. He will remain on the synthroid as long as his thyroid is underactive. Possible forever.

UPDATE: September 2005:

Noah turned 2 on Aug. 29th 2005. He took his first 2 independent steps that day. He is now up to 7 steps or so consecutively. We recently discovered he is near sighted in both eyes, with his right eye being weaker, and causing crossed eyes. We are waiting for his glasses to come in now. We are also getting ready to start a one child study using ongoing testosterone replacement therapy. This week Noah also started early intervention at a MRDD school. We are excited to see how he will progress in the presence of other children. He is speaking a few words, and signing a couple. He signs for "ball" "more" and sometimes "all done". He verbalizes "good dog" "good kitty" "hi" and maybe a few other things. He currently weighs 26 lbs 2 oz and 33 inches. And he gives the sweetest kisses in the world!

UPDATE: May 8th 2007:

Noah had been taking Oxandrolone (synthetic androgen) for just about one year when he came down with Rotavirus. His blood work showed high liver enzymes, so as a precaution, we stopped the drug immediately. Thankfully after 4 days in the hospital on IV fluids, his numbers came down to normal levels. That was a great indicator it was the virus, and not the medication that caused the increase. We are planning on resuming treatment in Oct. after a 6 month hiatus, if his liver enzymes remain normal.

He is currently 37 1/2 inches tall, and 32 lbs. at 3 years 9 months of age. We are coming to the end of his first year in pre school. What a year it has been : ) He rides the big school bus to a MRDD school 3 days a week. He has retained so much of what he learned, if only he could share with us better all the things he has in that brain of his. We discover things he knows often times by his repeating activities he has done in school at home. We call it using what he learns at school for evil at home ; ) He is handy with a pair of scissors now. He has a nice pencil grip, and can copy vertical and horizontal lines, and circles. He is starting to color within the lines. He can do a 10 piece puzzle independently. He can throw a ball, and is working on catching. Partially because of his depth perception problems, and his double vision, and partially because of his slow processing, catching is a little scary. Feeding problems are starting to resolve. He drinks less Pediasure, and is eating a bigger variety of foods and textures now. We are working on potty training, and he is moving in the right direction with that, although he is still in diapers or pull ups. We are working on dressing (undressing is not a problem), manipulating zippers and buttons too. Noah is very smart, very happy, and so incredibly sweet. And we are a very blessed family.