Still Fat and Happy

I had another doctor's appointment today. This time it was with the nutritionist and the gastroenterologist. I see them because I have a g-tube and it's hard for me to tell Mommy how much food I need to stay healthy. But she's not too shabby figuring it out. Anyway, they said the same thing they always say. "She's really tiny for her age. Her weight and height aren't even on the charts for a three year old." And then Mommy always says the same thing she always says. "Please check and see how her weight and height are in relation to each other." And so they did, and just like Mommy suspected, being 31 inches tall and 21 pounds is right at the 50th percentile. Sometimes I think Mommy should teach them a thing or two. It's okay though, because I grabbed the doctor's tie and blew spit bubbles on it. So there!

Back to School

I went to school today. It was fun! I hadn't been there in almost a week so it was nice to see Miss Maria again. She is my favorite, and I'm pretty sure I am her favorite too. No big surprise there. I go to a special school in Lake Mary for special kids like me. Some of the kids in my class talk, some don't. Some walk and some don't. So I fit right in. It's called UCP, United Cerebral Palsy, but you don't have to have CP to go there. Actually, there are even some "typical" kids there too. That's what we special needs families call "normal" kids. Because really, what's normal anyway?!

I sure had fun with the therapists today too! They've been trying to get me to stand and walk all the time, and all I wanted to do was play on my belly. Now today they wanted me to crawl on all fours, so guess what I did? I stiffened up my body so that they had to let me stand and walk around! That's called the old switcharoo! I showed them who's boss!

Oh, and I finally figured out how to add more information to my profile. So now when you click View My Complete Profile, it will actually be the complete profile!

Lucky Number Seven?

I visited my least favorite doctor yesterday, the otolaryngologist...a fancy word for ENT. I can't tell you what Papa calls him--Mommy says I'm not allowed to talk like that. :o)

The doctor said my ear tubes have fallen out again, and the fluid is already building up in there. It doesn't cause me any pain or give me a fever, but supposedly it makes it harder for me to hear. Mommy says I hear what I want to anyway. Like Daddy!

Anyway, I will need another surgery to replace the ear tubes. For anyone keeping count, this is the fifth set of ear tubes and the SEVENTH surgery in my short three years. I've grown quite a Beanie Baby collection by now! I'm kind of an old pro at these surgeries. I won't have much pain afterwards. But the anesthesia is always the scary part. Usually I'm home by the early afternoon and ready to polish off a few jars of baby food! Mommy always has my favorite ready for me: Pineapple Glazed Ham, and Butterscotch Pudding for dessert. Yum!

My surgery is May 9th, probably super early in the morning. Keep me in your hearts!

One of a Kind

It's called Chromosome 2q36 Terminal Deletion. No fancy name, it just is what it is. Sometimes a chromosome disorder will give a similar pattern of problems. If enough children are born with this similar pattern, then it can be called a syndrome. It gets a fancy name, like Down Syndrome, and more people learn about it and become less scared of it. But my disorder doesn't have a pattern. It's just me. I'm laying the ground rules, just how I like it!

So, here's your science lesson for the day. The human body is made up of billions of cells. Inside the cells are chromosomes, which contain the genes. Genes are the instructions that tell the body how to develop and work properly. Every cell normally contains 23 pairs of chromosomes, or 46 all together (we get 23 from our mommy and 23 from our daddy). This is how Mommy explains to people that there is no cure for a chromosome disorder: It is in every cell in my body. It's part of my DNA. People seem to understand that better because of CSI and other TV shows.

Each chromosome is made up of a long part (or arm), labeled "q", and a short arm labeled "p". Those arms are also divided into many different sections, labeled with numbers. So, here's where my uniqueness comes in. My affected chromosome is the long arm of chromosome 2. I am missing the last two little sections, 36 and 37. That's what the word "terminal" means in the name of my disorder: to the end of the chromosome.

Sometimes, for those who know the lingo, Mommy writes the words de novo at the end of the disorder name. This means it was not inherited from Mommy or Daddy. The doctors say it was "just a fluke." That's a medical term, I guess. Now you can see how all chromosome disorders are different. One time a nurse apparently thought the name of my disorder was too complicated, so she wrote "Down Syndrome" instead. As if we are all the same! Even two people with the same disorder can be very different, because the actual breakpoints in the chromosome might be many genes apart. Plus their environment is a factor in their development too.

A karyotype is a person's chromosomal make-up. If you are a normal female, it is 46,XX. If you are a normal male, it is 46,XY. My karyotype looks very different. It is

46,XX,del(2)(q36qter) de novo

Now that you know all about chromosomes, can you figure out what my karyotype means? Good luck!

Welcome!

My mommy and I have created this site to keep my family informed and to help people understand the world of rare chromosome disorders. Mommy and I have met so many people, the medical profession included, who have no idea what a chromosome is. And people, although their hearts are in the right place, want to know if the doctors have found a cure for me yet. Knowledge is power, so we are passing ours along. Enjoy!