Reflections & Ramblings: Volume Nine
Refections & Ramblings: Volume Eight
Reflections & Ramblings: Volume Six
Reflections & Ramblings: Volume Five
Refections & Ramblings: Volume Four
Today was Micah’s first day of preschool.
In the excitement of the morning, and in the rush to get out the door, we forgot to put our new puppy Missy in her crate before we left.
There was an incident.
So she ended up getting an unplanned bath.
Because we didn’t really know how much Micah would understand that he was soon to be going to school in the mornings, over the last couple days Sarah and I have been talking about it a lot with him.
When we got up this morning, I didn’t know if he’d remember or understand that he was soon going to be headed off to his new school.
He definitely remembered.
The first thing Micah does when he wakes up is to check to see if it is “blue” outside.
He is like an alarm clock. He almost always ways up at 6:15 am on the nose. And during this time of the year, it’s thankfully still dark outside. Micah knows that daddy and (especially) mommy don’t like to get out of bed when it’s still dark outside. So he asks for the iPad so that he can watch “George!” his favorite show on Netflix. I allow him to borrow it and watch an episode or so while Sarah and I try to catch a few more minutes of rest before the day starts.
And the day starts when Micah sees any hint of light outside, in which he announces “Blue! Blue! Blue!”and then “pot-tee, pot-tee, pot-tee!”
When we got to this part of the routine this morning I asked him if he knew what he was going to do today. And he pointed out the window and started saying “Bus!”
Unfortunately I had to tell him that he wasn’t going to ride the bus today, but that mommy and daddy would drive him to school today. (The bus won’t be arranged for another week or so.)
Micah showed that he understood, and he told me that he needed to eat and change his shirt. I think I must have mentioned something about wearing a different change of shirt to school before going there yesterday and that stuck in his head.
Getting Micah ready for school was a bit surreal. It’s just so hard for me to come to grips with the fact that he’s finally able to go to preschool. It’s so amazing. Micah was definitely excited about going to school. But Sarah and I were much more so.
I was finally a parent taking those cheesy first day of school pictures. It felt kind of weird on January 15th, but nonetheless, I had Micah stand near the front door while I took the cliche pictures.
And I loved it.
Getting to the elementary school and seeing the long line of cars and minivans was kind of fun. It’s one of those things I’ve seen a million times on TV, but before the moment I pulled into the line of cars, I had never imagined myself doing that. It made me feel more adult. Hard to explain.
We walked Micah up to his classroom for his first day of school.
We signed him in. He walked right in with no hesitation. We watched him take the hand of one of his teachers and go over to his new cubby to drop off his backpack and his coat. Seeing that melted my heart in a way I was unprepared for. Just an overwhelming sense of pride and love. We’ve put so much effort, energy, and time into raising this boy and here he is – holding the hand of his new preschool teacher.
They started him on the routines of their morning, and Sarah and I ended up being a distraction and the teacher kindly said something along the lines of,
“Ok, mom and dad. I think it’s probably time for you to go bye-bye now!”
So we left. Without him.
When we pulled into the driveway back home it was definitely strange. I asked Sarah, have we ever been home together without Micah?
Sarah’s eyes welled up a bit.
“No, we haven’t.”
I’ve generally been pretty good about taking pictures of our children. Trying to document things overall. I’m not the best with the more typical day to day stuff. When I look back on the pictures of the kids I’m amazed by what sticks in the memory and what doesn’t. There’s so much that we forget. They are constantly changing before our eyes, but it is so gradual it’s hard to notice it as it is happening.
Pictures are good, but audio and video capture so much more of a moment than a picture does. And I almost never take videos or record audio of things going on. I’m not really sure why. For one thing I am a snob when it comes to photography and video. I want things to look as nice as I can. And it’s really, really hard for me to get over that. I realize that every picture I take doesn’t need to be worthy of being published or put into a photo book. But I often still feel like I don’t want to take a picture if I know that it could be blurry or if the house is a mess or if the kids aren’t wearing something cute.
But then I miss out on life’s more normal, day-to-day moments.
The moments that are the easiest to slip out of my memory.
I don’t want to miss out on those moments. I want to be better at capturing them.
So I decided a few days ago that I wanted to be better about capturing audio and video of our daily lives. And that I want to take more pictures that represent the typical – the real – parts of our days. Messy house, missing pants, and all. When I go back and watch old videos that I have recorded they are more precious than gold to me. Invaluable. And I always ask myself why I don’t take more videos.
I don’t have a camcorder. I have my cameras which can all take video, but at varying qualities and with various limitations. For example, my nicer cameras can shoot some pretty great video, but I don’t have the option for autofocusing. I have to focusing things myself manually, and that can be a chore while recording video. My smaller more handheld type of camera does have autofocus, but it also doesn’t have the greatest quality video. Same with the iPhone 5S that I have.
So I picked up a camcorder from the store yesterday thinking it would encourage me to record video more often. When I got home and started playing around with it I realized the limitations of the camcorder and decided that it just wasn’t worth the money. I’ve decided to take it back.
If anyone happens to know of a good affordable camcorder that will give me a great picture, let me know. Otherwise I guess I’m just going to stick to my other cameras for now. But I do plan on recording more videos.
Ok. Back to reflecting on Kabuki Syndrome.
We are in day three of knowing that Micah has Kabuki Syndrome now. And I think it has sunk in a bit now. It’s more real now. This is our life. This will forever be a part of the reality of our family.
But personally, I think the concreteness of having a diagnosis has really done something for me. It feels like a huge weight has been lifted.
I realize only now that with Micah’s behavioral issues and delays that I have really felt really guilty over the last couple years. I always told myself that these issues weren’t really my fault, but I guess I didn’t believe myself.
I feel a great sense of freedom.
I feel that I can talk about Micah’s issues and delays now without a deeply rooted fear of being judged by other parents and grandparents. There are definitely reasons I didn’t feel safe talking about these things before (that I won’t get into here), but now I feel like I can talk more freely without being scolded or judged.
(There’s also issues of people pleasing and wanting to look good that I need to work on within myself, too. So don’t get me wrong, there either.)
But I don’t feel as vulnerable talking about things like the fact that Micah sleeps with me in bed every night. He starts out in his bed, and usually by 11:00 or so he has woken up and needs to be with me and/or Sarah in our bed for him to fall back to sleep.
People have strong opinions about this. I know our pediatrician does. He spent about 20 minutes telling us how to make it so Micah doesn’t sleep with us anymore. But honestly, that’s at the bottom of our concerns. If it doesn’t hurt him, then we’re not all that concerned.
But something we’re just now realizing is that kids with Kabuki Syndrome sometimes have sleep apnea, which could be what wakes him up and helps lead to many of the night terrors he has. We just don’t know at this point.
Another example is how Micah uses a pacifier even though he is three years old. We understand that kids can’t talk while sucking on a pacifier. But his speech issues are much greater than sucking on a pacifier. For Micah, a pacifier can completely change his mood. He can go from destructive and obstinate to peaceable and calm just by giving him a pacifier. I really understand where it gets its name.
But we also discovered that kids with Kabuki Syndrome have a strong desire for oral stimulation. And that is definitely true for Micah. He almost always wants to have something in his mouth to chew or suck on.
I believe parents know their own kids better than anyone else. If we take the time to learn what makes them tick, what makes them happy, what makes them frustrated – then we are the best people to make some of these decisions. Yes, being well informed from reputable sources is a good idea, but let parents make the decisions about their children unless it is hurting them or other people around them.
One time after church when I went to go pick up Micah from the Sunday School there, the teacher told me that Micah needs to learn how to be more obedient. He kept wanting to go to the teacher’s desk in the room, which is obviously not allowed. And that I should teach him to be better at sharing with other kids because he kept taking toys away from some of the kids while they were playing.
My blood ran hot.
I was kind of in shock that someone would say things like that so directly to me.
No one ever really tells us anything negative about him. Maybe someone might say something along the lines of, “Micah is quite the explorer, isn’t he? He is a boy full of curiosity and energy!”
And I know what they mean. And they know I know what they mean.
But when this woman told me this, man, I was both very angry and sad. It really hurt. Not what I was expecting after a nice church service, that’s for sure.
But now that I have this diagnosis, how do I respond? I don’t want to use it as an excuse for bad behavior, but I also want his teachers to know that he has some genetic issues which may lend themselves to undesirable behaviors in a Sunday School classroom. He may not be like all the other kids there.
I sensed no empathy in that woman. None.
I also don’t want to guilt trip anyone by telling them that he has Kabuki Syndrome.
“Micah was disobedient today. You need to teach him how to be obedient.”
“Hey lady, my kid has a genetic syndrome which may inhibit his ability to be as well behaved as we’d all like him to be. Ok?”
That’s how I feel. That’s what I want to say. But I know it’s not appropriate.
I can pretty much guarantee that I’m not alone in feeling this way. In fact I’m sure that there are plenty of parents with kids that have special needs that could help me think through issues like these better than I am on my own.
On Wednesday when I heard through a distorted speakerphone that Micah was being diagnosed with Kabuki Syndrome, I kind of chuckled to myself.
Kabuki Syndrome? Really? That’s what it’s called?!
I knew it had to be of Japanese origin. And that was strange enough, but to call it Kabuki? Because of how he looks? That seems weird to me. It doesn’t really seem appropriate.
Due to the whirlwind of the diagnosis, I kind of tucked it in the back of my mind as being odd, and moved on.
But today as I was messaging with a friend he kind of called it out.
I have to say this, and I know you know this but I have to say this. I can’t just have us typing here about Kabuki like it’s a normal thing to do. We’re not doing that.
It’s messed up. Any time you name someone based on what they look like that’s insulting and insensitive. It’s no different than calling someone a Redskin. Oh, it’s not insulting, it’s just that’s what color their skin is. Yeah, you’re right. But it is insulting. It’s totally insulting.
You’re short. I’m gonna call you shortie! Insulting.
You’re pale. You’re…Casper! Nope.
You have a hunchback! Let’s call you the hunchback! That’s not what decent people do.
I couldn’t agree more. It’s not just about being politically correct. This isn’t being over-sensitive. It’s just not appropriate to name someone based on what they look like – and that includes genetic syndromes.
We briefly hypothesized what it would look like to sort of hijack the term and go edit the wikipedia article on it and things. But this is something I plan to really do some good thinking about and maybe come up with a solution. Because honestly, I simply don’t feel ok with continuing to call it Kabuki Syndrome – a name that comes from the dramatic facepaint of Japanese theater actors.
I know I’ve only known about this syndrome for something like 56 hours or so, but still, there has to be a better name.
As I continue to process what I think about the name, I’ll write about it. Maybe eventually I’ll write an entire post about it, with a detailed plan of how to hijack the name.
I’ve always enjoyed coming up with chapter titles for various segments of my life.
When I was in seminary I worked part-time at the library on campus. During my first semester I worked a shift until we closed at midnight. And after a long day of classes and work, on the way home I’d realize that I was hungry. It wasn’t the kind of hunger that comes from not eating anything all day. It was more that I was often just really tired and my body processed that as hunger.
But there happened to be a Taco Bell just a few blocks away from my apartment on my way home and it was almost as if the car just drifted into the drive-thru to order that fourth meal. I’d order some food and pull around to the same cashier every week.
The name of that cashier?
I decided then that a good title for that chapter in my life would be “Tacos from Jesus.”
Soon after Sarah, Micah and I moved into the city of Chicago, Micah started walking, giving him access to everything in our apartment. He loved to scurry to the kitchen and play with the items in the pantry. Pots, pans, and cans would end up in random places all over the apartment.
One day as I went into the bathroom to take a shower I glanced into the tub and saw something out of the ordinary. I called out to Sarah.
“Honey? Why is there a bag of marshmallows in the tub?”
And thus another chapter title was birthed.
I’m not 100% sure what this chapter of my life will be titled yet. But after a chat with a friend today, I’m thinking it may “Kabuki Theater.”
Sarah and I are still processing through yesterday’s diagnosis of Micah. During breakfast today she and I talked about it for quite a while. There are definitely some significant differences between how she and I are working through the news. I feel more relief about this than she does. She said relief isn’t really something she is feeling right now. She’s more just…sad about it.
But not a sad like, “Oh woe is me!” kind of a sad. But a sadness that’s related to Micah’s future.
“He’s going to be picked on,” the geneticist warned us, “because of how he may look.”
I think those sorts of details are the kind that are nagging Sarah at the moment. I don’t want to speak too much for her, but that’s where she seems to be right now. And I understand that. And that’s ok.
She also told me how sad she was for Ezra. She wondered how he’ll feel about all this as they grow up together. Will he be embarrassed?
These are the kinds of thoughts I haven’t made it to yet.
Sarah thinks quickly into the future. I stay more focused on the present.
I am incredibly thankful for all those who took the time to read my post yesterday. It really means a lot. It is by far my most widely read piece to date. If I would have known that ahead of time, I probably would have given it another read through (or two) before hitting the ‘publish’ button.
But really. It does mean a lot that so many took the time to read through it. To comment about it on Facebook. To comment about it here. To text me. To message me privately.
I do plan to be writing and blogging a lot more this year. If you want to follow along you can subscribe to this blog. Just look to the left column of this page and you’ll see a place to sign up to recieve emails when I post a new entry. And if you are a WordPress.com user and you are signed in, you can click the follow button and read my posts in your Reader. You can also subscribe via RSS if you happen to use something like Feedly.
Or don’t. That’s totally fine, too.
But, really, thank you all.
Please don’t worry about saying the right thing to us. Or wording things just right. Honestly, at this moment, just knowing that people were willing to take the time to hear our story, to learn more about Micah and his genetic condition. That’s enough.
If you are the praying type of person, though, prayers are definitely appreciated.
Ok. So the big news for today is that we went to Micah’s new preschool to meet his preschool teacher and the therapists that will be working with him. We couldn’t be more excited for him to go to school and enjoy some structured learning time with therapists as well as other children.
The classroom is great. It has stations all over the room with all kinds of toys and activities to investigate and play with. Micah ran right to the kitchen section and started playing. (Ezra went over to the shelves of toys and methodically started pulling every toy down, scattering them across the room.)
As we started to go over the details of Micah, we were able to tell them that just yesterday we received the diagnosis of Kabuki Syndrome for Micah.
Now, we were told by the geneticist that we would have to explain what Kabuki Syndrome is to anyone we ever tell about it. He said he could pretty much guarantee us that no one will have heard of it before.
So we started to explain what Kabuki Syndrome is when the occupational therapist interrupted us politely and said that she knows what it is, and that in fact, she’s worked with three other kids that have had Kabuki Syndrome in the past. And another child that they thought might have had it, but ended up not having it after all.
Wow! What are the chances?
Probably similar to winning a $1.5 billion Powerball.
Micah is in a classroom with a total of 19 other kids.
Ten are kids who have developed normally and do not have any sort of disabilities.
Ten are kids who have not developed as expected and have various sorts of disabilities.
There is a preschool teacher that focuses on the ten with developmental issues.
There is a preschool teacher that focuses on the ten without developmental issues.
There is a speech therapist. There is an occupational therapist. And there may be other professionals that I didn’t meet today as well. I’m actually not quite sure.
Pretty amazing though. And all of this is provided to us without charge. It’s free. And to me, that’s the hardest part to grasp. This is such an incredible blessing that is being provided to our family. This will completely change our lives, and especially the life of Micah. Going to preschool and working and playing and learning in that structured environment is going to be so incredibly great for him.
He is totally going to thrive. No doubt in my mind.
And we set it up for him to start riding the bus as soon as possible. It takes a little while for them to get that established, maybe another seven to ten days or so, but eventually Micah will be eagerly waiting for the bus to come.And then he’ll get on the bus and ride off to school.
It’s hard for me to really even grasp right now. This is such a new chapter in our family’s life. When Micah is at school in the mornings, I’ll get to have one on one time with Ezra for a change. And then when Micah comes home, the three of us will have lunch and then Ezra will take his afternoon nap while Micah and I get one on one time together.
What a neat, neat thing. I think I’m ready for this chapter. I’m more than ready.
So here we are.
Kabuki Theater. Act one.
The start of the journey
Early in the morning on September 17th, 2012 Sarah’s water broke. She was five days overdue and extremely ready to meet our first little baby. After a few hours of trying to get comfortable at home we headed to the hospital to meet our little guy.
The labor went quickly, without any real hitches at all, and our first son Micah entered the world at 12:31 in the afternoon. It is a birth story that Sarah’s midwife said needed to be told frequently to encourage other pregnant women. Birth stories aren’t all bad or horrific or traumatizing. We were fortunate to have a good one to tell.
It was a Monday. I’ll never forget the feeling of lying in that roll away hospital bed that first night with Micah watching Peyton Manning throw four interceptions on Monday Night Football.
I had a son. And life as I knew it had changed forever. And I was totally ok with that.
Beyond just a few struggles with learning how to breastfeed, Micah was a champ as a newborn. Sometimes he demanded to be held to fall asleep, but overall, Sarah and I were totally ok with that. We were parents. We were proud of it. And Micah was just about the cutest baby we thought we had ever seen. We were often told how attentive he looked and how energetic and playful he seemed.
After six short weeks, Sarah went back to work again. (I’ll never forget the frown she gave me on the way out the door).
And so it was just me and Micah every day. As many know, being a stay at home parent of a newborn can be trying. It has its ups and excitements, and it definitely has its monotony and its downsides. It can actually be pretty lonely. I watched a lot of movies during those first few months while Micah slept on my chest.
Transitioning to Chicago
When Micah was born we were living in a north suburb of Chicago. But when Micah was about 9 months old Sarah got a job as a nurse at the Rehab Institute of Chicago and we moved into the city.
Micah had not once slept through the night his entire life up to this point. The second day in our apartment in the city happened to be the same night that the Chicago Blackhawks won the Stanley Cup. As soon as they won, the city went crazy. Motorcycles revved their engines up and down the streets. Fire trucks blared their sirens. People shouted and cheered in the streets. But that night was the first night that Micah ever slept through the night. Sirens, motorcycles, and all.
The three of us quickly adjusted to the wonderful city lifestyle of Chicago. And just a couple months after moving into the city, Micah learned to walk. He was around 11 months old when he started walking, and running wasn’t far behind. It looked so funny because he was such a tiny little dude that people did not expect could walk or run. But could he ever!
Micah becomes a big brother
In the late summer Sarah and I learned that she was pregnant and that we were going to have another baby sometime in late March. Sarah was a total trooper. She worked hard throughout her entire pregnancy while I continued to stay home with Micah. The winter that year was brutal. I think it was the second or third snowiest winter on record. Thankfully Sarah took the train to work.
On March 23rd of 2014 we got to meet Ezra for the first time. Sarah gave birth to him in the exact same room that Micah was born in, which was pretty neat. And her labor went much faster and with even less issues than Micah’s birth (with a few extra moans, because this time she decided to go all natural).
Micah was so excited to meet his little brother. I’ll never forget the first time he got to meet Ezra. He was so kind and gentle with him. It melted Sarah and my hearts to see him interact with his new little brother.
It wasn’t too long after Ezra was born that we started to notice that Micah had some developmental delays. He wasn’t talking as would be expected by someone at 18 months. He had a few fine motor skills delays that we were somewhat unconsciously ignoring, too. At the advisement of our wonderful pediatrician in Chicago, we signed up for early intervention and started getting regular speech and occupational therapy sessions to help Micah progress and be more consistent and intentional about helping him meet some milestones.
Hints and nudges
At this point we weren’t really worried that Micah had any real issues or diagnosable issues at least. But I did always have that feeling that something was different about Micah. He was just way more active and hyper than any other kid his age was. Micah was always super enthusiastic about meeting new people. Stranger danger never really developed for him. He was over the top affectionate with any living thing – human being, dog, cat, or well, anything. And he was super curious all the time – both busy and tenacious. The stories and experiences that I’d hear about from other parents only partially aligned with what I was experiencing with Micah. And now that I had Ezra to contrast him to, our experience raising Micah contrasted significantly. It definitely threw up some red flags in the back of my mind.
I can’t say enough about how much we appreciated the instruction and wisdom of Micah’s therapists. That’s especially true of his speech therapist. She was so incredibly helpful and empowering. I’ll always be thankful for her impact in Micah’s life, even though it was only for a few short months.
Transitioning to Omaha
In the fall of 2014 Sarah and I decided we needed to make a change in Sarah’s work situation and also move to be closer to my family. So we made the big decision to move out to Omaha, Nebraska. Sarah had applied for her dream job – a labor and delivery nurse – and got it pretty quickly after she applied and was interviewed. We had two weeks to move from Chicago to Omaha. We moved in with my mom temporarily while we looked for a place to live, with the incredible help of my cousin.
During the transition to the Omaha area, we lost a lot of the routine that had been established in Chicago. It made things harder overall for everyone. Micah learned to climb out of bed, and it made nap times and bed times quite the battle.
In late January of 2015, we finally moved into a house all to ourselves for the first time. It was so great for the kids. They basically had the entire basement to themselves. And for the first time they could be as loud as they wanted to be without disturbing anyone (except their parents, of course).
The Courage of a Friend
A couple weeks after moving in, on February 13th, a friend from my time in seminary contacted me on Facebook in a private message. Without much knowledge of Micah, she vulnerably reached out to me to let me know she was concerned that Micah might have a rare genetic disorder that she was familiar with.
I had never mentioned Micah’s therapy or delays on Facebook, but she was able to notice through pictures of Micah that he had some abnormal features. In a courageous and loving message, she challenged us to investigate if Micah perhaps had Williams Syndrome – a rare genetic syndrome that has distinctive facial features, developmental delays, and often comes with heart defects. I had never heard of it, as most haven’t, but she said it would be good to check out in case he had health or heart issues that needed to be addressed.
Quickly I Googled Williams Syndrome and read all sorts of things about it. A dangerous thing, yes, but oh so informative. The more I read, the more things came into focus for me about Micah. My heart thumped loudly in my chest while surges of hot adrenaline caused my skin to tingle as I read articles, saw pictures, and watched videos.
I brought it up with Sarah, and the more we learned, the more conflicted things became for me. Yes, this would explain so many of the issues and challenges we have had with Micah up to this point, but now what? What if he has it? Are all the plans we have made for ourselves destroyed?
It’s amazing how fast the brain can move into hypothetical future problems.
After some brief discussions with Sarah, we decided that we needed to contact a doctor that could help us with this. There are only two developmental pediatricians in Omaha, so we wanted to make an appointment with one of them as soon as possible. But before we were able to do that, we had a lot of paperwork we needed to have sent to their office, and that we needed to fill out ourselves before they would see Micah.
That was enough to enable us to delay it.
For five months.
Honestly, we wanted to know and we didn’t want to know at the same time. There were days I wouldn’t even think about it at all.
Micah is just a busy, lovable guy with lots of energy, right? Surely he’ll start talking soon enough.
Parents were always trying to reassure us that he was fine, too. And that his speech delay was nothing to be worried about. That one day it would just click. Or that it was because he was a boy. Or that their kid didn’t really start talking until he was 2 or 2.5 or 3. The ages progressively got older as Micah also got older and still wasn’t talking. Until people’s input just kind of stopped.
Getting the ball rolling
As Micah got closer and closer to turning three, I think we started to feel the pressure to figure out what might be up with Micah. We had delayed things long enough and needed to figure out if something was wrong, not for our sake, but for the sake of Micah’s health and development.
We eventually were able to meet with a developmental pediatrician who was able to rule out Micah being on the autism spectrum. He told us he diagnoses someone with autism every day, which was amazing to me. We were affirmed in our desire to get a genetic screening to find out whether or not Micah had Williams Syndrome.
So we called a clinic to get Micah’s genetic testing set up and to our shock they told us they wouldn’t be able to see us until December 9th. That was five months away! We could hardly believe that we were going to have to wait that long.
In the meantime we joined some Williams Syndrome support groups on Facebook. I can’t tell you how incredible online communities like that are. Even though we were not sure Micah had Williams Syndrome, we felt pretty confident that he might, and found a lot of encouragement through the group. Finally I was familiar with many of the stories of the little ones being talked about in this group. But many of their children had experienced some serious heart issues and other serious physical problems, which didn’t match up with Micah and definitely left some doubt in my mind about whether or not he did indeed have Williams Syndrome. It was a weird place to be – not knowing for sure.
Sarah found out that another hospital system offered the genetic screen and had a very well respected geneticist, so we decided to try and call them and see if they would be able to test Micah before December. They were, and they scheduled a time to meet with Micah in September.
So two months later we finally met with the geneticist. He is a brilliant (and eccentric) doctor that has been doing his thing for over 45 years. He checked Micah over and gave us the suggestion that he could possibly have Williams Syndrome. That suggestion was unprompted by us. This is someone who can basically diagnose people within five minutes and almost always be correct.
So by this point it seemed pretty likely that Micah had Williams Syndrome because of the original suggestion from my friend, general (and cautious) acknowledgment that Micah had “the look” of a Williams Syndrome kid from parents who themselves have children with Williams Syndrome, and then finally the geneticist’s suggested diagnosis. A genetic test to specifically verify whether or not Micah had Williams Syndrome was requested by the geneticist to be approved by our insurance company. After a little back and forth, it got approved and Micah had his blood drawn for the test.
The initial results
On a Tuesday in October as I was walking out the door I got a call from a Nebraska number and I answered it. It was the geneticist:
“Is this Mr. Seaman?”
“Yes. This is Andrew.”
“Well, Mr. Seaman, your son does not have Williams Syndrome.”
He jumped right to it. I barely knew how to respond.
“That’s…great! That’s, that’s wonderful.”
I was conflicted because if he did not have Williams Syndrome, then what? But yes, it was good news. But the lack of having something definite left me in an unexpectedly uneasy spot. I was relieved and anxious at the same time.
I also felt kind of bad and conflicted that we had been in discussion with the Williams Syndrome support group on Facebook and then Micah ended up not having it after all. We were community-less again. A lonely place to be. On top of that I felt kind of guilty because we had assumed that Micah was like their children. But he wasn’t, and I felt kind of like a poser.
After a little bit of further discussion with the geneticist, he said that he would recommend another genetic test, the broader microarray test which looks at something like 180,000 genes. If he did have something going on genetically, that test would be able to detect it.
It was a bit more of a challenge for the microarray test to get approved by our insurance company. And time kept on ticking by. We were starting to get worried that we wouldn’t be able to get the test done within this year, meaning our insurance deductible would be reset, meaning we’d have to pay a lot more to get the test done.
But eventually, a couple weeks into December we got the call from the geneticist’s office that the test got approved and that they were needing to draw Micah’s blood again. Sarah rushed over there to get that done, so that way they could get right to the testing.
Finally, a diagnosis
Getting the microarray test done didn’t guarantee that we’d actually get determinative results. We weren’t guaranteed a diagnosis. His results could come back and not have any duplications or deletions that caused any kind of concern. Or he could have duplications or deletions that they don’t know what they mean. It’s an interesting place to sit and be in – to be waiting for. What do we really want to have happen? If everything looks normal, then what does that mean about Micah’s development and delays? What would explain his behavioral and speech issues? Would it mean that we are just bad parents who did this to him? I didn’t like to think about it.
Yesterday Sarah got a notification on her phone of a missed a phone call from the geneticist’s office. By the time she noticed, the office was closed for the day. But they left a message and told us to call back about the results.
So this morning Sarah called them back and we were finally told that they had the results from the microarray test, and that the geneticist had a diagnosis to give Micah. Sarah came near me and turned on speakerphone.
Micah has a partial duplication on the 12th chromosome, a specific duplication that would determine that he has a very rare genetic syndrome (three times more rare than Williams Syndrome) called Kabuki Syndrome.
Finally. We had something definite to work with. What has been going on with Micah all this time has a name. A strange one at that. Kabuki Syndrome.
Sarah and I have definitely been processing through this differently, and we haven’t really had a long time to discuss those differences. But by this point I was pretty sure Micah had something genetically going on that was inhibiting his development and speech. For me it is a relief to have a name, to have a syndrome that I can Google and find information about. To not be alone, kind of floating in the nebulous state of waiting for testing results.
We scheduled an appointment to meet with them around lunch time today to discuss this more at length with the geneticists. Our meeting was very informative and helpful. He said that it is a genetic disorder that is oftentimes hard to diagnose unless one goes to the lengths we did to get tested. He said it is often misdiagnosed or confused with Williams Syndrome, but that kids with Kabuki Syndrome have less physical problems to worry about than those with Williams Syndrome. Our time with the geneticist was reassuring, validating, and empowering. And I can’t be thankful enough for the wonderful insight and knowledge that he was able to provide us with.
What’s up with the name ‘Kabuki’?
In a sort of bizarre coincidence, Micah Masato Seaman – an American child with two white American parents who gave him a Japanese middle name – has a rare genetic syndrome named after a Japanese dance-drama. Our geneticist told us that it is because of the prominent eyebrows that are very common with kids with this syndrome. Kabuki dancers are those famous dramatic looking faces covered with white makeup, highlighting the dark and prominent eyebrows. People with kabuki syndrome have prominent and high-arching eyebrows.
So, now what?
The timing of this diagnosis was pretty incredible. Tomorrow Micah has an appointment and assessment with his first preschool teacher. And he could even start school as early as this Friday! Next week he’ll even have the ability to start riding a bus to school.
When Sarah and I were first told this we were so excited that this service is offered here in our city. Micah is going to love being a big boy and getting on that bus every day. When I realized it was the stereotypical short bus, I told Sarah, “I never thought I’d be so excited for my kid to ride the short bus!”
Now that we have this diagnosis we can help Micah get the proper help that he needs to thrive and continue to develop. It is pretty much guaranteed that his school will not have heard of Kabuki Syndrome. But because we have this diagnosis now, we are able to provide them with materials and resources that explain his needs and challenges. This will make it much easier to provide Micah with the structure that he specifically needs to learn, grow, and thrive as a young boy.
Speech is his greatest challenge. For the most part, Micah does not say more than one word at a time. And although his vocabulary is continually growing, his enunciation of the words he knows and says are really tough to understand. Thankfully, Micah will have speech therapy that will help him continue to push through the challenges of his speech delays and give us tools to help him improve here at home.
So here we are. Sarah and I still have a lot to process through. But this is a huge milestone for Micah and for our family as a whole. Thanks to many of our friends and family members who have been there for us throughout this process and throughout Micah’s entire life. Micah is an incredible kid. Anyone who has met him knows that. I dare you to find someone more tenacious than him. (Or someone that loves doors more than him.) We love him so much. And we are going to continue to do everything we can to help him exceed the expectations or limitations that others may place on him. He’s a smart, creative, and hilarious kid. I look forward to seeing him grow into that amazing personality of his.
Thanks for reading all this. I’ll be writing updates from time to time about him here on my blog if you’re ever interested in keeping up with him and our family. 😊