"Well it's Hurlers" the geneticist said bluntly. "Do you have any questions?"
"Hurlers" I said, "that's MPS I, right?"
"No, no other questions".
This was the phone conversation I had late on a Friday night, April 2nd, 2013, confirming my son's diagnosis of a rare genetic disorder.
"It's a boy!" my OB/GYN exclaimed just 18 months earlier but my husband, Paul's, face had already given it away. We had decided not to find out the gender of our second child until the big arrival. We waited to hear his first cry signaling that he was OK. Those fractions of a second seem to take forever but he finally belted it out and the Dr. placed him on my chest. For most people it is the only time you want to hear your child cry.
"He has your eyes," my husband said. "But where did he get that nose?" It didn't particularly look like either of our noses. But he did have a big forehead which both my husband and I happen to have.
He was a "healthy" boy by all measures, scoring a 9 on the tests. He was 6lbs 12 oz, 18 1/2inches long. My pregnancy was "normal" by all means. Measurements were right on track according to our ultra sounds. My weight gain was exactly that same as with my first child, Peyton, at 35lbs. There was nothing to trigger an alarm at all during my pregnancy. Paul and I were both very healthy albeit considered "older" parents. But we had already had one child who was now 2 1/2 and was very healthy and measured at that 50-75% at all her well visits.
In fact, I didn't even take any medications or even have an epideral with this birth. Peyton's deliver had been fairly fast once I started pushing and so I wanted to have this one au natural. I was already dialated to 4cm when I went for my weekly check up at about 4:00pm on that Monday afternoon. My OB/GYN said I would go at any time now and if I didn't start labor by Thursday morning to come back in. Well, Coleson must have heard him because I didn't feel quite right after I left. I wasn't sure I was having contractions but I was feeling a little funny. I prepared my nanny and my husband that it could be any time now. My husband joked that Monday night football was on so we had to go now or wait until it was over.
We proceded to take Peyton to the park, had dinner and then I put her to bed. Finally at 8:30 I called my OB/GYN just to let him know that I thought I was having very weak contractions but they were about 7 minutes apart and not getting any closer necessarily. Though once in a while I thought I had another at about 4 minutes. He thougtht I should head in to the hospital. I waited another 30 minutes before coming downstairs and informing Paul that we needed to go.
I went to the bathroom and just like with Peyton, my water broke. I knew that the contractions would be starting to hurt and would get a lot closer. So we waited the couple of minutes for the football game to end and we got in the car. We texted our good friends that we were on the way to the hospital. They were due with their second child, a boy, the day before I was due and they were deliverying at the same hospital. At the same time, Mike had texted Paul that they were there and had their boy earlier in the day.
When I arrived at about 9:30 I was already 6 cm along. It was October 3rd and I knew it would be close to midnight when I would give birth. I liked the sound of October 4th, 10-4, for the birthday so I decided I wasn't going to give birth until after midnight. The nurse said I would never make it. For the next 2 hrs. I listened to my iPOD and chewed gum while the contractions came closer and harder. Paul had to rub my back when they occured but otherwise they weren't bad. I stood up for a while as the nurse said it might make the contractions easier but it made them come quicker and it was only 11:30pm so I decided to lay back down.
I looked at my IPOD and it said 11:48pm but the clock on the wall said 11:45pm. I asked the nurse what the official "time" was and she said 11:42. Shit, 5 minutes just got added to my labor time. At 11:58 I told the nurse to get my Dr. because at exactly mid-night I was going to start pushing. And I did. At 12:13am Coleson was born.
That day I got to introduce Peyton to her baby brother and just enjoy my newborn son. The nurses would periodically take him to run the traditional new born tests. They brough him back after his hearing test and he only past in his right ear. "Nothing to be concerned about", they said. It's very common for newborns to fail the hearing screens at the hospital. Fluid and air pressure can build up in the ear canal during the birthing process.
Coleson and I cuddled that night and were released the next morning. Before we could leave he had to have another hearing test in his left ear which he again failed. They sent us home with orders for an ABR 3 hr. hearing test. Again, nothing really nothing to be concerned about but something we needed to follow up on.
One week later we were in our pediatrician's office as he was a boy, he had to get circumsized. During the circumcision she noticed he also had inguinal hernias. She recommended a surgeon at Phoenix Children's Hospital. "Inguinal hernias are common in boys", she said. Nothing to be concerned about but something we needed to get fixed.
My parents flew into town that week to meet their 7th grandchild. They of course tried to figure out who he looked like. Well, he definately has your foreheads, my stepmom said. But he doesn't really look like you or Paul really. Peyton happens to be the spitting image of her daddy but Coleson just didn't really look like either one of us. In fact he was almost opposite of Peyton in many ways. Peyton had long skinny feet, toes and fingers. In fact one of the first things I had noticed about her when she was born was her "big" feet. Coleson on the other hand had short, chubby feet, toes and fingers.
"He kind of has Lorin's eyes." she said referring to my older sister. They were definately bigger, bulgy eyes. I look like my older siste and I had those same eyes as a baby as well.
"I think he just looks like Coleson, " my stepmom finally said. "He just looks like himself".
His 3hr. hearing test was scheduled for the end of October. I sat with him on my lap during the 3hr. test where they measured his brainwaves in response to sounds at different decibles. The tests showed minor/moderat hearing loss in both ears. Again, this might be due to fluid build up in the ears but we need to follow up with an ENT.
At his one month well visit, his pediatrician noticed he had Pectus Excavtum (sunken chest) and diastasis recti (abdominal muscle seperation). Something I might want to talk to the surgeon about when we have his hernias removed but nothing to be too concerned about.
More to come later...