Wednesday, April 27, 2005

Blood Belongs In The Body

Journal Entry, May 12, 2004

A'ight, Self, here's the scoop. Aorta is too small-- surgery looks bad. They'll only do it if it reaches the point where there's really no choice. We give him six milligrams a day of Propranolol, a beta-blocker to keep his heart from working so hard. Hopefully it won't thicken any more.

Creatnine went down to 2.0, which is positive. We're discussing the possibility of dialysis, which, frankly, terrifies me. I remember visiting Grandma in the hospital one time when she was really, really sick, and the tubes running in and out frightened me. That comes to mind when I think of running Niko's blood out of his body. There's such a primitive fear when it comes to should never be outside of the body. Ever.

His phosphorus is too high, so we're trying to get this certain formula, and I just got a phone call five minutes ago saying his calcium is too high, as well. They're afraid of seizures, so I'm supposed to mix Similac 60:40 with Calci-lo. (When we actually can find some.) The Nephrology clinic sent me home with a big book on Chronic Renal insufficiency, and how people with CRI need certain diets, medications, and care. Next week I learn how to inject him daily with a growth hormone.

We started physical therapy at a school instead of the hospital, and he seems to like it there as well. We'd like to get him to a bi-weekly preschool there when he turns 18 months old. They do therapy and other things that will help him.

Meanwhile, no job. I remember how hard I searched and how frustrated I was when I was looking for a job. We want to stay here because of the care for Niko. We really love it here and have great friends...isn't that why Luke went to school? To find a great job?

A little overwhelmed. I'm near tears almost all of the time. I hope to get organized tomorrow.

Heart and Kidneys

Journal Entry, May 6, 2004
What an ordeal yesterday turned out to be! We arrived at 7:00 AM and left at 6:30 PM. A few things came to light. The MRI showed that the aorta to his heart is too small, which explains why his heart is pumping so hard. Our cardiologist doesn't know if we can treat it with medication, or if there's surgery to help. She'll call around and find out. So there's that. But his creatnine levels came back at 2.4. I guess for a baby they would be 0.3 (?) or so, and for an NFL football player, about 1.7, so it's super high. They put Niko on an IV and tried to figure things out. Today's blood draw shows that the creatnine went down a point, from 2.4 to 2.3, so we go in for a blood draw and an echo on the arteries leading to the kidneys tomorrow. I have questions to ask. I'm beat. See you tomorrow.

Birthdays and MRI

Journal Entry, May 5, 2004

We're spending the morning at Children's hospital. Niko is under sedation and going in for an MRI and a heart echo. Luke doesn't have class until later, so he's here with me. Babies with WS are usually more sensitive to anethesia, so that's a concern. Heart problems complicate it, blah blah blah. They put him in a little gown and he cried and fought the gas mask, but I smoothed his hair, looked him in the eyes and talked to him ( until they booted me out) and he'll wake up to Mommy and Daddy's smiling faces!

It was his first birthday on Saturday. We had a mini party with friends. Luke made a baseball and mitt cake, and we had balloons. Of course, Niko is unable to eat any sort of solid foods, and is still throwing up his formula several times a day. He tried a lick of cake and vomited dramatically in his high chair. But a quick whisk to the tub and bedroom and he was all clean and ready to be entertained within minutes. We opened all the windows and kept the balloons in the air, trying to bat them out of each other's open window. It was extremely juvenile, and extremely fun! The "Real" party will be in June when our families come up.

They just wheeled him in and will be doing the echo. His eyes are taped shut. We love him.


Journal Entry, April 25, 2004

An unusually high number of nightmares about Niko lately. I'm feeling pretty disturbed right now.

Challenge for Charity

Journal Entry, April 24, 2004

Niko is down for a nap (hooray!) and I willingly tuck myself into bed with you and a Cadbury Cream Egg. Easter was great. We talked to our families, and put golf balls in the Family Easter Basket for Luke, a pair of WONDERFUL high heels in for me, and the rest of the basket was candy and NIKO NIKO NIKO! How fun to pick out a little church outfit for him...and a pair or Batman pajamas with detatchable black cape. Who wanted the church outfit and who wanted the cape, I wonder? (Innocent look) Luke and I are backwards from stereotypical relationships. He wants salad, I play video games. He thinks church, I think superhero. We like it! I notice that I've been shopping like crazy lately. That's totally unlike me. And Luke's been lying around the house, which is unlike him. We are learning to cope with stress in better ways.

So last weekend we went to California to do a Challenge for Charity with Luke's school program. How wonderful to get a break from daily life. We stayed in a great hotel, and it was beautiful. I did the obstacle course and Tug-Of-War with the students while Luke held Niko. It was fun to break out of my shell and do something out of the norm for me...whoever would have thought that my "norm" would have become so boring???

The Day After

Journal Entry, April 9, 2004

I had a night to process this, looked it up on the internet so as to be prepared for today's conference, and am trying to assimilate it into future life. One one hand, I see my sweet Niko, and on the other I see this syndrome, and I'm certainly having difficulty laying one transparent picture over the other and seeing the finished product. Anyway, it's a beautiful day, and we're going for a walk this morning! Bye!

The Call

Journal Entry, April 8, 2004

What to say, where to start. Luke loved China. I loved New Orleans. We love being back. I love him and he loves me...we both love Niko. Niko loves us. So maybe everything else is secondary.

I received "The Call" about 20 minutes ago. "The Call" clarifies the elusive SOMETHING that has been dogging our steps the last eleven months. Well, first...last week Niko's sedated echo showed some blockages in the veins going to the lungs. So to compensate, his heart has to pump harder, and since it's a muscle and is working harder, it's thickening a little within the chamber. Since the chamber is smaller, there's not as much room for the blood to go, so it's having to pump harder-- vicious cycle, and all that. The Cardiologist says she thinks there is another obstruction in the aorta, but she couldn't tell from the last echo. In three weeks we do another one, and get a 24 hour heart monitor for him. And do a CAT scan, so they can see better. And probably a million other things that I don't know about yet. Honestly, though, I'm so glad that they are so eager and willing to help. I have confidence in them.

Anyway, "The Call" states that the preliminary report finds that he DOES have Williams Syndrome, although it will take a week or so for the final results to come in. That's consistent with some, though not all, of his heart symptoms and his developmental delay. Although I thought he was okay, he's 11 months and has the development of a six month old. We go to physical therapy with him once a week and I work with him at home every single day. We have a conference tomorrow with the geneticist to discuss it. I guess I'm not surprised. When they first mentioned Williams as an option months ago, something rang true to me. I mentioned that to Luke then, and we brought that up today. Overwhelmed, I guess, but not surprised.

Living At The Hospital

Journal Entry, March 5, 2004

So Niko and I practically live at Children's Hospital. Tests, tests, and more tests. Due to the folds of skin under his eyes, the heart murmur that never went away, the head tilt to one side... all signs point to...SOMETHING. Ah, that ever elusive something! When shall it be found, if ever? So far Cranialfacial has discovered...NOTHING. Next stops: Cardiology for a sedated echo, Physical Therapy for an evaluation of the head tilt, and a blood draw to test for possible William's Disease, having to do with the skin, connected to Chromosome Seven. that's all I know. I won't look it up, or worry, because we walk in and shoot down all their tests-- BLAM BLAM BLAM!!!-- and then blow the smoke from our barrels. I appreciate their thoroughness, and I appreciate their concern, but Niko is happy and is developmentally normal. I don't know what they expect to find.

Arrival of the Tsar

Journal Entry, September 2003

Niko is the most beautiful boy ever born. He's oohing and aahing over the wonders of this life. He's entranced by thing that we take for granted, like his own hands. They must be delicious.

He scared us to death when he was born-- bright red and very angry, always screaming and trembling his "fists of rage". Most babies cry-- he was absolutely livid! Turned out his hematocrit level was so high , 77, that when they drew blood out of his arm, it was thick like maple syrup and strung from his arm to the needle. With so many red blood cells, his immature liver couldn't break them down, and he developed severe jaundice. They had him in an incubator for phototherapy for FIVE days before we could leave the hospital, and then another four days at home. Nine days of not being able to hold my baby except during feedings. Except, of course, that one brief moment where I slipped him out of the lights and danced with him to David Bowie's "Magic Dance." Three forbidden minutes of smiling, laughing, and twirling, NO WIRES. NO LIGHTS. That will always be our song. Every day we thought would be the last day...a new bloodtest on my little one, both soles of his feet pricked raw, and a new heartbreak every time they said he'd lost more weight, or his bilirubin level had spiked again. It was awful. I actually began to tear up when they called with the bad news the last few days.

I don't remember if I told you that the tests showed that Babe was at a higher risk for Downs Syndrome. He had a chance of 120 out of 1100. Well, while in the hospital, the nurse noticed that Niko's hands had a completely horizontal crease in them, a symptom of Downs. That, couple with his heart murmur (common in infants) and the high HCT, gave them cause for concern, and the next thing I know I'm giving them the okay to count his chromosomes. He was beautiful, and looked normal, but there are different levels of severity. A month later, his tests come back completely normal. A series of coincidences. The crease is called a simian crease, and appears to be hereditary. Luke's brother has one. "Gosh, I'm so sorry!" He said, looking down at his hands. "I thought everybody's hands looked like these!"

Monday, April 25, 2005

Adventures in Williams Syndrome, Part One

Hey, gang, my name is Mercedes and this is my maiden blogging voyage. It's daunting to write down all of my thoughts and concerns about my little boy and then shoot it out into cyberspace, but I'm thinking that cyberspace is exactly where this information needs to be shot.

My two year old son Niko was diagnosed with Williams Syndrome about a year ago. My husband and I had never heard of it, and were quite astounded at the unusual characteristics that it tends to entail. I performed an exhaustive search on the internet for information, which only succeeded to depress and horrify me. There's really not a lot known about Williams Syndrome yet, and the severity can vary so much that it's almost impossible to get a guideline of what to expect.

So of course, the information that I found wasn't really helpful. Reports contradicted each other, and many were so dry and BLEAK that I finally couldn't read any more. This was my BABY, and to come upon such hazy "predictions" for his future was pretty frustrating. What I really needed was a blog. I needed to hear from somebody who either had Williams themselves or had a child who had WS. I needed to cut through the medical jargon and hear somebody's real words saying, "Yeah, you know, this is what to look out for." Foundations didn't really interest me at that point, and the Mother's Groups I attended (not for Williams specifically) were real downers. I am not a victim. My son is not a victim. I do not in any way feel that we have been cursed with some horrible thing, and that people owe us. I wanted to read somebody's words from afar, so I could contact them if I desired, but I didn't feel obligated to. I wanted to be a silent sponge that soaked up their knowledge so I could take what fit and use it in my own life.

I haven't found anything like that, so I'm starting my own. After this beginning intro, I'm typing in entries from my Journal just as I wrote them at the time. So you'll be able to follow along with us as we make our new discoveries, and believe me, there's something that we learn every single day. But before I begin, I want to say three very important things that I wish I had known up front. It would have saved a lot, and I mean, A LOT of pain!

Number One: definitely keep a journal. Not only will it clear your head and heart out, but it's really useful for looking up the dates that things happened. When did they start their meds? How much did they weigh at the time? It also lets you see how much progress really is being made. I read my journal last night, and found out that almost a year ago exactly, Niko was going into kidney failure. Right this very second, he is holding onto my knees, growling. He has come such a long way since then!

Number two: If you notice your child itching him/herself, check out their calcium level. Niko has Hypercalcemia, where his body can't really use the calcium, and that is what was sending him into kidney failure. It's not something that people really check out a lot. A chance comment from a nutrition student sitting by me in the bleachers alerted me to it. It can be corrected fairly easily with diet and IV infusions.

Number three: This only gets better. Kids get older, doctor's get smarter, you get stronger.