Not a Ninja

I learned a new game called Ninja this summer, and it is one of my new faves. Basically it is a sophisticated hand slap game. Daddy and I were playing in the kitchen tonight, waiting for dinner to be ready and he got me. I screamed, only because I scream every time I lose—I don’t usually win, but still it catches me off guard. You were sitting at the table in your special chair, and out come the pouty lip and tears. Sweet girl. You thought Mommy got hurt and it scared you. It took a little while to soothe your hurt feelings. As tough as you are, you can be pretty sensitive. It just goes to show how aware you are though.

Getting Better All the Time

You have been doing so great lately in many areas!

*Socially. You are quite the talker. Especially at night and nap time when you don’t want to go to bed. Now, for example.
*Holding things. Tightly, and with both hands! While in your car seat, you are constantly grabbing the cord to your bag and shaking it around. You often grab your switches while sitting in your special chair and try bringing them to your mouth.
*In fact, you bring a lot of things to your mouth. And you allow Mrs. Tamara in there during your OT sessions without getting very defensive or gagging. A few weeks ago you even let us squirt some milk in your mouth and you worked hard to swallow it. That is incredible progress considering we haven’t been working on oral stim at all.
*Mobility. Still not rolling again. But you are managing to pivot in circles while lying on the floor.
*Visually. I can tell you are making more of an effort to get a good look at things, even if it means you have to hold your head in an uncomfortable position to do so.

I am not the only one that has noticed your improvement in these areas; others have mentioned to me how well they think you are doing. You are the super girl!

Shunt Success

So far your shunt is working like it should! The ventricles in your brain look about the same as they did last time we took a look, which is what we want. If everything goes well and we have no reason to suspect something is wrong, we won’t go back for another year.

As we loaded onto one of the elevators today, we saw and briefly spoke with Dr. K. It was a good reminder for me to schedule a follow up on the colostomy pull through. I can’t believe it has already been that long since we have seen him. Last September when he first told me that we didn’t need to come back for 12 months, it sounded so far away. And here we are, almost September again. It has been almost TWO years since the colostomy was reversed. Already I can barely remember those days of changing your colostomy bag. Unless someone asks me about your scar, it never even crosses my mind.

Unfortunately, hydrocephalus will always have to be at the back of my mind. 50% of shunts malfunction within the first two years of placement. Some symptoms are blurry vision, headaches, irritability, sleepiness, lethargy—none of these will be easy to spot on you. So I will need to keep a sharp eye out for regression in skills and a change in character. And when in doubt, check it out!

Cholesterol Lows

We got the results back on your cholesterol test. Good news is that your cholesterol has doubled! The bad news is that it is still lower than anyone would think possible. 7.7 mg/dl. None of your SLOS friends even have numbers that low. Strange thing is that your 7-DHC is also up a bit to 116. Here’s how it should work in layman’s terms, best that I can understand:

7-DHC is a basically a precursor to cholesterol. The normal range would be anywhere from .04 to .36 ug/mL. Too high a level of 7-DHC is toxic. A normal body gets rid of 7-DHC by using an enzyme to break it down into a usable form of cholesterol . So ideally, as the 7-DHC goes down, the cholesterol goes up and vice versa. In your body, however, the genes responsible for creating the enzyme to break down the 7-DHC are mutated. So those levels are very high for you – currently 116ug/mL. But this is up from last time we did labs. I don’t see how your cholesterol and 7-DHC went up together—there should be an inverse affect.

I really have to become aggressive about getting the specialists to look at you. The main issue is funding—there just isn’t enough of it to go around. But truly, you are a wonder child. I don’t even know how your body can function with a cholesterol number so low. It sheds light on why you are more than two years old and still not doing what a three month old can. Our doctors are fabulous, but none of them are very familiar with SLOS. So I emailed the specialists back in March, thinking they would love to get their hands on you and see how and why you are surviving. Only one responded. His study doesn’t seem like it would be super beneficial to you. However, it won’t hurt you at all either, so if that’s our only option, we will do it. But I am hoping the other two will show interest also. We just have to figure out why your numbers aren’t increasing. And since what we are doing now obviously isn’t working, we need to find a more efficient way of getting cholesterol into your system. Or even better, a way to give you the enzyme needed to break down 7-DHC. And I need to get started on your 3rd birthday fundraiser now, so that we can help contribute to finding these answers.

Bear Hugs

Today we had a routine CT scan to make sure your shunt is functioning properly. While in the waiting room, a lady came by and gave you a special bear pillow. She gave Bubby one also! It is so great that TCH has volunteers to love on kids like that. Even for you, the toughest girl ever, the machine that does CT’s and MRI’s is scary. I imagine older children who have an idea of what’s coming are most likely pretty anxious. A teddy bear to squeeze might be just the comfort they need.

Wheezy Breezy

Your brother is sick; he wheezes with every breath. And, perhaps typical of a big sister, you think it is hilarious.

Your laugh is so grown up these days! For such a tiny girl you give some mighty big and precious belly laughs! It is absolutely my most favorite sound in the world.

Kickin' It

To be in your stander, you have to wear shoes over your braces. And as thick as your braces are, you need shoes that are several sizes larger than your normal size. So here you are in Bubby's huge shoes. You are ADORABLE!

Kindness and Goodness

This week is the last children’s day-camp of the summer and we are talking about the fruit of the Spirit. Each day we talk about one or two, and today was kindness and goodness. I decided to use you in my devotion, so after my 4th and 5th grade class talked about what kindness and goodness was and a few examples, I went downstairs to get you.

I first came up with this idea last camp when my 2nd grade class met you. It was the day Honey stole you away for a bit, and when she dropped you off the rest of your class was walking around in the “bye-bye buggy”. So I said I would just hold on to you until they came back. I brought you out onto the playground where my kids were playing and within a couple of minutes, every single kid was crowded around you. At first it was just being a baby that attracted them. But soon it was because they realized you are a very special baby. A couple brave kids asked me some questions about you, and I always answer very receptively and honestly. When they saw that my feelings wouldn’t be hurt, a flood of questions came. We talked about why you can’t sit, walk, or talk, what the tube in your stomach is, why you don’t open your eyes, why you don’t close your mouth, why there is a hole in your mouth, why your teeth are so pointy, what cholesterol is and why Cheerios wouldn’t help you. But most of all we talked about how tough you are, how sweet you are, and how you love to laugh. The kids took turns using the Velcro on their shoes, zippers on their hoodies, and coming up with all new sounds you might think are funny. Before long our break time was over and we needed to go inside to practice the musical. Everyone said bye to you, and many of them walked away talking about how cute you are. As I dropped you off at the nursery, I couldn’t stop thinking about what a great experience that was for them.

I think a lot of times our “PC” culture prevents children from asking questions about people that are different. Some parents are quick to tell children not to stare or ask questions and basically teach kids to ignore those different people. But I feel like knowledge is the key to appreciating and understanding. I would never be offended by an honest question about you. You are absolutely beautiful, inside and out, but I know you don’t look or act the same as everyone else. It’s not like if someone were to ask me “why”, my eyes would suddenly be opened to your differences for the first time.

So today I thought it would be a good opportunity to introduce you to this class, especially since we have already had issues with respect and manners and kindness this week. Sure enough, the second I stepped into the classroom, one of my students said something inappropriate about you. My response was, “That is exactly what we are going to talk about today.” And I began to tell them your story.

Pretty Bird, Pretty Bird

The lights in your ceiling fan went out out several months ago, and all this time we have just been using a lamp on your changing table. Your room has a big window, but the direction it faces and the shrubs right outside mean you don't get a lot of direct sunlight. Good for napping, bad for seeing your new bedding that came in last week!




So this weekend we had a handyman come fix several things around the house, one of which was installing a new switch for your light. It's amazing how excited something so simple could make me. Afterward I took you on a tour to see what your room looks like. You love it.