Sunday, September 19, 2010

What we've been up to

I am going to try to get back into the blogging thing.  I know some of my bloggie friends have been following our journey on caringbridge.  For those who haven't been, here's what's going on.

We finally have L home!  She stayed one month (to the day!) at Children's in DC before we were finally able to bring her home.  She came home with lots of little scars and a g-tube (for feeding) and a very big personality.

Feel free to ask any questions you have.  But here are the basics:

What is wrong with her?
She is perfectly healthy but is missing an enzyme that allows her to process proteins.  It is called a Urea Cycle Defect and the specific enzyme she is lacking is CPSI.  When the body cannot process protein, a toxin called ammonia builds up and creates hyperammonemia which basically means too much ammonia!  It goes to the brain, and if left untreated, causes seizures, brain damage, coma, and death. 

Other than missing the enzyme, she is a perfectly healthy and normal little girl.

What can they do for her?
L is on several medications.  She is on L-citrulline and buphenyl for her metabolic disorder.  Buphenyl is considered a scavenger and gets all of the toxin out of her body.  L-citrulline replaces something that her body doesn't create (I think!).  She is on phenobarbitol to prevent further seizures.  She has not had any seizures since August 17th and the current plan is to gradually wean her off of the seizure medication as her brain heals.  She is on prevacid for acid reflux because the two metabolic medications are very acidic.

Additionally, her protein intake is restricted.  She receives just enough to keep growing, but not enough to make her ammonia levels go up.  It's a very delicate balance and one that is difficult to maintain considering how quickly babies grow.  Also complicating things is that when a person gets sick (with a cold or anything really), the body creates more protein to fight the sickness.  This can cause another hyperammonemia episode.  Getting sick for L will likely cause her to be hospitalized.  Additionally, if they restrict her protein too much, the body breaks down the muscle to use as protein, which again can cause a hyperammonemia episode.  All a balancing act!

Why does she have a g-tube?
The enzyme L is missing is located in the liver.  The hormone that sends signals to the brain that a person is hungry is located right next to where the missing enzyme is.  Studies are showing that kids that are lacking this enzyme also don't tend to have the same hunger drive.  Additionally, buphenyl is an appetite suppresser.  Therefore, L drinks some of her bottle at every feeding during the day, but sometimes just isn't that hungry.  With L's defect, we have to keep her calories exact every single day.  She eats every 3 hours on the dot, and gets medication at every feeding.  Therefore, anything she doesn't finish drinking HAS to be given to her.  Instead of force feeding her the rest of her bottle, we want feedings to be enjoyable.  She drinks as much as she wants, and we give the rest to her through a tube that goes to her belly. 

What does she eat?
Her formula is made up of a special formula for Urea Cycle patients called Cyclinex-1, some breastmilk from me, and the rest is water.  I'm so thrilled she's able to get some breastmilk to build up some immunity!

So, it's genetic?
Yep.  It means that both hubs and I are carriers.  It's nothing either one of us would know about, and the defect isn't one that would've been detected during any prenatal testing.  It means that for each child we have, the child has a 25% chance of ending up like L with the defect, a 50% chance of being a carrier like hubs or I, and a 25% chance of not being affected at all.  Being a carrier is extremely rare, and then the fact that both of us are carriers is even more crazy.  The news certainly alters our plans for building our family.  We'd love to have more kids but will probably explore other options than the "natural" way.

What's next for L?
She is on the waiting list for a new liver.

Why does she need a new liver is the medication works?
Because reaching a good balance where she gets enough protein to grow, but not too much to cause her ammonia levels to go up is harder to maintain as her growth slows down.  It means kids with this defect end up spending so much time hospitalized.  And remember that the high ammonia is toxic to the brain.  It means too many life and death scares.  A new liver will give her the best chance at a long, happy life.  After her transplant, she can eat normally.  It basically is the closest to a cure for her.  But, of course, there are risks associated with a transplant, but it's a risk we have to take.

What is she like now?
She's a smiley, happy, baby!  She's loving being home.  She coos and oohs and ahs for 2 hours when she wakes up in the morning.  She has a temper like her mama.  When the doctors want to take blood, she screams her head off, goes red in the face, and sweats.  She acts and looks like a completely healthy and normal baby.  She is our miracle baby!

Pictures coming soon!


  1. I'm glad Luca is home with you guys!

  2. Miracle baby indeed!!! I'm so happy you guys have her home with you now :) Can't wait to see pictures!

  3. Seeing Luca now vs seeing her when she was initially in the hospital is amazing. She's like a new baby!

  4. Thank you for the update! I have been wondering how things were going. So happy to hear she is home from the hospital and is doing well. I will be praying she gets her new liver soon. Do you guys have any idea when that will be?

  5. Thank you for sharing so much with us. Thinking of you, your husband, and your sweet little baby girl. I hope that liver transplant can happen as soon as possible.


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