What is VLCADD?

As some of you may or may not know, Konrad has a condition called VLCADD, which stands for Very Long Chain Acyl CoA Dehydrogenase Deficiency. It is an autosomal recessive disorder, a result of Austin and I both having a recessive gene, and Konrad getting those genes from each of us. What are the odds, right? It happens to 1 in 40,000 to 120,000 people. Because of the PKU blood test taken when he was born, this deficiency was quickly detected. I have to admit, at the beginning, it was a huge shock! 6 days after Konrad was born, I took him to the pediatrician for a routine check up. He'd had jaundice and I was taking him back to make sure his bilirubin count was still low enough. However, Dr. Later (Konrad's pediatrician) met with us the second we entered and delivered the news that Konrad may have VLCADD, a condition he had never even heard of before. Thus, he didn't have much information other then what Primary Children's had sent down when they sent the results. All he could do was tell me was that Konrad had the inability to break down long chains and as a result, we had to when he ate very carefully. The situation was so serious that Primary Children's in Salt Lake already had an appointment set for us, for the following morning. Until then, our instructions were to make sure Konrad ate every 2 hours and that he didn't get a fever. If he wouldn't eat or acquired a fever, we were to take him to the hospital immediately where they would administer a glucose drip. Needless to say, I didn't expect that a week after having him we'd be taking Konrad to Primary Children's to meet with a metabolic specialist.  But, 7 days after Konrad was born, we were there, talking with the Dr. Longo and two other people: the dietitian and the geneticist. It was reassuring to hear all the information and to start to understand what VLCADD in our baby meant. The scary part was that VLCADD can result in SIDS for some babies. This is dependent on the severity of symptoms, which varie from the severe form which usually occurs in infancy, to milder forms that are manifest later in life as muscle fatigue when exercising. At this point there was no way to know which form of VLCADD he had. Another PKU blood test was taken, to ensure the accuracy of the first, and within a week we knew that it was for sure: Konrad had VLCADD. Now to determine which type he had, Dr. Longo took a skin biopsy (yes, they took a little piece of our baby's skin from right above him cute little bum). The results, however, would take 2-3 months to come back, so until then, we learned as much as we could about VLCADD and the possibilities.  VLCADD is one of the better enzyme deficiencies a child can have. To explain: we eat, and then our body is technically fasting until our next meal. During that time our body uses first, the short chain fatty acids, then the medium chain fatty acids, and finally the long chain fatty acids. Enzymes are needed to metabolise those fatty acids. The problem is that Konrad does not possess the necessary enzyme for his long chain fatty acids. So if Konrad goes long enough without food, and his body tries to use those long chain fatty acids, it will try but the trying will harm his body. When his body finds it cannot complete the metabolism of fat, fat acid metabolites will accumulate and result in the inhibition of glucose and cause abnormal liver function. Tissues that are highly energy dependent, such as the heart and muscle, become energy deprived and impaired, which leads to cardiomyopathy (heart is inflamed and doesn't work as it should) and rhabdomyolysis (muscle breaks down and muscle fiber enters the blood stream).  Here's the cure: monitoring his diet. That's really all that can be done, since there isn't a way to replace the long chain fatty acid enzyme. So for the first few weeks I made sure he ate every 2-3 hours; I even set an alarm after every eating to make sure. That included through the night... so no, I didn't sleep more than 3 hours for those first few weeks, and I napped as much as I could throughout the day. I have to say, it made me appreciate getting my REM sleep, when I was able to sleep for longer periods through the night. As Konrad grew and gained weight, he was able to go longer between feedings (not that he necessarily did, since I was breastfeeding at the time). He was born 7 lbs 9 0z, but lost about a pound during the first week, which is natural. That's why he had to eat every 2-3 hours. But when he got to be just over 8 lbs, he could go 4 hours without eating, and then at 10 lbs he could go 5 hours, etc.  So in October his skin biopsy results came in, and it was good news! He has the milder form of VLCADD, which means the symptoms of his deficiency will show up when he's exercising, with weakness of the muscle. We were worried he wouldn't be able to play at sports, but as long as his heart stays healthy, he's fine to play any sport he wants. He'll just have to make sure he's drinking lots of Gatorade (not water) when he's playing so as to replenish his carbohydrates, electrolytes, and glucose. We are thrilled that he is going to be a healthy, normal little boy! Only his diet will be special. He cannot have meat, traditional oil, butter, cheese, whole mild, ice cream, peanut butter, nuts/seeds, luncheon meats, sausage, bacon, etc. Anything high in fat is a BIG NO! However, there are lots of things he can eat: foods high in carbohydrates like cereal, bread, pasta, crackers, tortillas, potatoes, etc; chicken, turkey, fish, shellfish; vegetables of any kind; fruits of any kind; and an oil called MCT (Medium Chain Triglyceride) oil. In essence, a heart healthy diet. We will be one healthy family, that's for sure! Which I don't mind at all.  It is his heart that will determine how he's doing, and establish what he can and cannot do. He's already had one visit to the cardiologist and he's in perfect health. Which is good! If he had cardiomyopathy already, there'd be a good chance he wouldn't make it through his first year. He will have to go to the cardiologist once a year for the rest of his life, to monitor his heart regularly.  At first this VLCADD caused me some serious anxiety. Austin and I were both pretty worried about him. But now that we have all the information and can see how healthy he is, we feel great about his situation. It could have been worse, much worse, but it's not. If he had to have this, he's got the mildest, best kind he could have, and for that I'm eternally grateful. So don't worry! I gave all the facts so that our family and friends can be educated about it, and what that means for Konrad's eating habits. I have no doubt I will be explaining this more many years to come... to his teachers, to his friends' parents, so basically I'm just practicing on all of you. :) But, to look at him, you'd never guess that he had VLCADD. He's growing normally, is long for his age, actually, and is as active as you could wish a baby to be. I'm starting to call him Mr. Curiosity. He wants to see it all, touch it all, and taste it all!

His First "Toofer"

Look at the bottom left side of his mouth... his right tooth popped through about 2 weeks ago. I would've posted a picture earlier but it is very difficult to catch a picture of that little tooth. Everytime I tried to open his mouth for him he'd slide his tongue right over it, covering it before my digital camera could register and process the picture. Lucky for me, he's started yelling as loud as he can, revealing his tooth and allowing me to easily take a picture. Now as to the yelling... maybe not so lucky? Nah, I'm just kidding. I have to admit, it'd be annoying if anyone else was doing it, but his little yell is quite adorable.

All the pictures I DIDN'T get when my camera was lost

There must be something about being outside in the cold that makes him want to suck on his bottom lip. Whatever the reason, he's adorable!

We all went ice-skating right before Christmas with Celene's side of the family.

hmmmm.... yummy! Merry Christmas to Konrad! ;)

Can you imagine a more photogenic baby?

Because he's teething he'll chew on anything, including his fingers.

NEWS FLASH: Camera Found!

It's true! I have my camera back again! I'm so relieved.  We have a video camera now, which is fabulous, but there are video moments, and photo moments, and I've been hating all the photo moments I've missed this past month. You might wonder where it's been all this time... As expected, it was somewhere completely unexpected: Gavin's missionary backpack. The story is, Austin used it to transport our Wii from his family's house to our apartment, during which time the camera was also put in there, but forgotten. I gave Gavin his backpack back, never thinking that my missing camera might be in there. He just happened to look through it yesterday and there it was! So here are some pictures that were on the camera from when Konrad was 5 1/2 months old.

Look closely... Konrad is balancing on Austin's hand!

He loves to hold anything and everything... and then stick it in his mouth and drool all over it

This was one of his first time's eating food. Messy eater!

Can you see the bubble Konrad made?

Beautiful boy!

The Winner Is...

This was the favorite! I have to admit, it's one of my all time favorites of him as well. He is so adorable all bundled up and his eyes are just so blue! I swear they get bluer every day too. 

Beautiful Florida

I just love the beach! Especially the ones in Florida. We spent a week down there after Christmas with my family... we visited Grandma Baldwin, walked the beach at sunset, chilled by the pool, went to the Tampa Lowry Zoo and then later to Sea World.

He makes this face all the time, but it's hard to capture on camera. Well we got it this time!

Watching the sunset.

He loves the water, especially the waterfall at the pool. He's got his war-face on, ready to conquer.

Peace!

Cutest Pic?

Megan had a good idea... everyone should vote on their favorite picture of Konrad! You have one week to put in your vote. Since I'm not terribly computer savvy, I don't have a button you can push, but you can leave a comment telling me which one's your favorite. After I tally up the votes I'll post the winning photo on Monday, January 19 so we can all marvel in his cuteness together. Have fun!

Bigger and Better!

Where there were two, there are now three... we would like to introduce to friends, family, and the world, the long awaited arrival of the one, the only... KONRAD! Or at least, that's how it feels to us. We may be biased, but Konrad is the most beautiful little boy in the world! In the words of Grandma Baldwin, if he were any cuter it'd be a sin. 

I'm sorry I haven't created a blog sooner to share the awesomeness with all of you, but at least I'm now finally doing it. So here is my attempt to catch you all up on some of Konrad's most precious moments...

Day #1, only an hour or two old

The Fourth of July! (1 week old)

Ready to box... swing a few punches (4 weeks)

one of Aust's fav... the Model Pose (4 weeks)

In Michigan with the Hoovers (5 weeks)

fast asleep and blissfully unaware of anything (6 weeks)

Mission accomplished... he's laughing at some funny, yet stupid, face i'm making

(11 weeks)

"Studly" (12 weeks)

Happy Halloween! Now to fully appreciate this costume, you have to understand that because Konrad was breach, he came out with his legs always up in the air near his face. In this position he strongly resembles a little frog. (13 weeks)

This was his Christmas outfit (14 weeks

All bundled up for a BYU football game and wondering why he can't move (16 weeks)

who knows... (18 weeks)

He loves Tigger! (19 weeks)

Now I have a not so happy ending to all these wonderful pictures... I have lost my camera and for the last month and a half have not been taking pictures! A crime, I know. However, there is hope - Austin's family is always taking pictures of him while we are over there so when I have those, I will update this blog with many, many more entertaining shots of our little Konrad.