Wrong info

   So this is part of why I was so hesitant to disclose Joey's genetic disorder to friends and family until we had more information. Today we met with the developmental pediatrician and discovered that Ashley heard wrong. She thought the PT said Trisomy 17, when in actuality she had said Trisomy 16p. To be more specific we found out that he has a partial duplication of the  P arm in the 11.2 region. The good news is that it's a very small duplication, ~280kb, and the complications tend to be less severe than with 17.

Sadness

   So I've been feeling kind of sad lately. Not sad for myself, not sad that we didn't get what we expected, not sad that we're going to be facing challenges with raising Joey, not sad that raising a special needs child seems like a lot of extra work for us, not sad for us at all. All we asked for was a child to love and raise, and we got that. I've been feeling sad for Joey.
   Sad for him in a few different ways. I guess the lesser sad is just for the simple fact that he is going to have a rough time growing up. Difficulties learning must be something very frustrating for a child, and I'm sure that he will face teasing and such from other children. The bigger sad though is the thought that he might not experience everything that life has to offer. There is so much to life. Getting an education, going to college, living alone, finding yourself, finding your passions, getting a job, dating, finding a wife and getting married, having children, traveling, and so on, and so forth. There is just SO MUCH to life, and I worry that he won't get to experience everything that life has to offer. He came out of the womb and into the world, and he didn't even have fair shot from the start. I just hope and pray that the disabilities aren't too great, that the challenge isn't too large for him to get everything out of life that he wants to get. If he wants to be a mechanic, I'm fine with that, but if he wants to be a doctor and the challenges are too great, that would break my heart. I think that what a parent wants most is for their children to be happy, and I worry that he might not get enough from life to ever be happy.

Joey is sad too :-/

Like a Timelord

   A woman walks into a dealership eying a new Corvette. The salesman walks up and starts explaining that the engine is hand assembled with forged pistons and connecting rods, and a fully balanced rotating assembly. She says "whoa, too much info! I just wanted something flashy to let my ex-husband know that his alimony is going to good use!" Too much info? Yes. Damage done? None.
   A human normally has 23 pairs of chromosomes, or 46 total chromosomes. The chromosomes are divided into genes. The genes of course have all the information that determine what a person will be like. From the color of the hair to the size of the feet, and everything in between. With Joey's condition, he just has a little extra chromosome. Not even a full one in the case of trisomy 17, but just a partial one. Just a little bit too much information. How can too much info be bad? I mean if the extra part of the chromosome that he has contains, oh say, the information for how the heart will be, couldn't he just have two hearts? Like a Timelord? What would be the harm in that? Or some extra brain power?? I mean, how does just a little tiny bit of extra information throw things off so much?
   Sorry if my nerdy references zip right over your head like an Incom T-65 trying to chase down a TIE fighter.

The choice and the result

   When a couple makes the decision to stop being careful, and to start trying to conceive a child, they never think that the child they will be blessed with will be anything less than perfect. They don't stop and wonder, at least not if they haven't had problems in the past, if they are going to have a child with Down Syndrome, or Trisomy 17, or a cleft palette, or whatever. You start the process, and go through the pregnancy expecting the end result to be a healthy, happy baby with full motor skills and full mental capacity. You don't worry until you have cause to worry. That was the case with us. Even though Ashley had a miscarriage about a year prior, the thought never crossed our minds that our baby wouldn't be like most babies. The truth is though, that when you choose to conceive that life you never know what you are going to get, and you are promising to love your baby regardless of how perfect or imperfect your little guy is.
   I guess if the right tests had been done we could have detected this before he was born, but to be honest, I'm glad the right tests weren't done. We had 9 months during the pregnancy where we didn't have to worry about how this chromosomal disorder might affect him, and another 4 months after that. That's 13 months that we got to enjoy little man worry free. Sure, that gave us 13 months to wonder if he'd be a doctor, or a lawyer, or an engineer. 13 months to build great expectations, only to find out that he will likely face great challenges just to learn to read and write and talk and walk and understand the world around him. My understanding so far is that the impact it has on children is highly variable, so maybe he'll fare better than most children, but how much it will affect him is yet to be seen. It does seem almost inevitable that he will at least face great learning disabilities. Maybe if we had found out sooner we would have had more time to prepare for this reality, but I wouldn't trade those worry free months for anything. 13 months of worry free time enjoying your baby is priceless. We still know early, and maybe with early intervention we can minimize how much this affects him, but I wouldn't give up those 13 months of not knowing for anything. He's still our Joey, he's still awesome, I still believe that regardless of the challenges he, and we face, our lives are better, our lives are blessed for having him here.

3 weeks old and already plotting to take over the world, or at least the house!

How common is it?

   It seems like Trisomy 17 may be more common than I first reported. Apparently there are different forms of the disorder. I think that numbers I cited before (7-50 known cases) was probably for specific forms of the disease. My friend pointed me to a Wikipedia page that says that one specific form, Potocki-Lupski syndrome affects 1 in 20,000. Still a pretty rare disease, but not nearly as rare as what I first reported.

Joey at 2 days old.

 

Milestones

Joey just reached a new milestone. We have him in his pack-n-play in the living room, and he just rolled over from his back to his stomach for the first time, at 4 months and 1 week. After he rolled over he was near the edge so we moved him more towards the center and then he rolled from his stomach to his back, something he did at around 1 month, but hasn't done in much since really. According to the milestones chart at Babycenter.com rolling in both directions is an emerging skill for 5 months, so he's ahead there, and passing objects from hand to hand is an emerging skill for 6 months, and he's been doing that for at least a month already, so he's like 2 months ahead on that one. According to the chart, turning towards sounds and voices is mastered skill for 6 months, and he's been doing that solidly since 3 months.

Joey at 4 months.

The beginning

   This is our son, Joey. He was born on September 5th 2012 at a healthy weight of 8lbs 9.5oz. and 20.5 inches in length. He had an Apgar of 8/9. We didn't find out the sex during the pregnancy. When Joey came into the world I had the honor and privilege of telling my wife it was a boy. Seeing his face for the first time is something that I will never forget. When he came into the world, he didn't begin to cry for a few seconds, probably close to 30. My wife anxiously held her breath waiting for those first sounds of life to come from his tiny body. I watched her and you could see the worry in her face as she was waiting; those 30 or so seconds seemed like a lifetime, but then he began to cry and you could see the worry wash away, and she began to cry with relief and joy. His breathing was a little raspy, so they suctioned his nose and throat again, and then again, and the raspyness continued, and so began the 4 month journey that led to the news that we got this past Wednesday, 01/09/13.
   Shortly after delivery they moved him up to the nursery. Ashley stayed in the delivery room because she couldn't walk yet because of the epidural. I went with Joey and stayed there for about 30 minutes, then returned to my wife in the delivery room. After a while we were moved up to a regular room in the same section as the nursery. They brought Joey to us and she began feeding him. The nurse told us that while he was in the nursery he had a crying spell where he turned purple and so they were going to keep him in the nursery so they could monitor him. The raspy breathing continued and the next day we got a diagnosis of Tracheomalacia, a condition where the cartilage of the trachea is soft allowing it to collapse when he breathes in. The doctors told us that generally it is something that will correct itself as he ages and the cartilage gets thicker and stiffer. As part of the diagnosis of tracheomalacia they did an x-ray of his chest. On that x-ray they noticed an abnormality of the 12th vertebra. I don't remember the date, but I think it was about a month after birth his pediatrician had him go in for a heart echo. He said that usually with these kind of things, there are other things, and they just wanted to be safe. So Joey went in for his heart echo, and we found out that he has a bicuspid aortal valve. The cardiologist said that it's not necessarily a big deal, just something to do a checkup on annually. His pediatrician decided that based on these 3 relatively minor things that it would be prudent to look further and do some genetic testing, and to send him to a developmental pediatrician to look for developmental delays. In early December we took him to the lab where they drew some blood. A few days after that Joey saw the developmental pediatrician (DP from now on). She evaluated him thoroughly, and said she didn't see anything that made her concerned as far as mental development goes, which gave us a sigh of relief. She did notice though that he favors having his head turned to one side, a condition called torticollis, so she made arrangements for physical therapy with an in-home therapist. A little more than a month passed before the first visit with the physical therapist (PT from now on). The PT came on Wednesday January 9th, 2013, at 9am. She came and did the physical therapy and she told us that Joey's torticollis was really not that bad, which was nice to hear. While she was there, she also mentioned that the genetic test results had come in, and that Joey has Trisomy 17. She said she wasn't able to to tell us much more than that, but we would learn more from the DP at his next appointment, which was set for February 5th. We didn't know what Trisomy 17 meant, so we began doing google searches.
   As we began doing research we found that there is relatively little information out there, but what we did read made our hearts sink. Depending on what medical paper you read there are between 7 and 50 diagnosed cases at this point in time. 7 to 50 diagnosed cases. What are the odds that Joey would have something so rare? I would imagine that we would have a better chance of winning the lottery twice than having a child with Trisomy 17. There is not a lot of info, it seems that how it can affect a child can be highly variable, and we have to just sit and wait for the next few weeks to pass before we can meet with the DP, where hopefully she can answer all of our questions and more. Since it seems to be so rare, it's highly unlike that Trisomy 17 is anything she will have had any first-hand experience with, but hopefully she has access to more info than we do.
   What we do know is this. He's happy, he smiles, he laughs, he cries, and aside from his noisy breathing he seems like a normal little baby boy. He watches the TV and the dogs and the cats. He knows the games we play with him. He grabs toys and other things that he wants. He is almost ready to sit up on his own. The only outward sign that really concerns us is that he isn't not growing particularly well. At 4 months he is about 14 pounds and 24.5 inches. He has gone from being in the 90th percentile for weight and height at birth to 20th percentile for height and only the 12th percentile for weight.
   I am struggling to believe that he can have something so rare, and I think I will ask for a retest when we go in on the 5th. Until then we are going to just try to not worry to much, love him as much as ever, and enjoy our beautiful, beautiful boy.

 Joey at about 6 weeks.

 

Joey at 2 months.

Joey at 2.5 months