A club nobody wants to be a part of

I follow some bloggers who have sad stories to talk about.  Before I had Luca, there was something that drew me to these people - how they managed to get through terribly tragic situations with such grace.  I was inspired, mesmerized almost, by their stories. 

The ones that especially hit me now are ones where the blogger has lost a child.  Now, I find it difficult to read their entries.  I click on a new post, and pause, and chills run up and down my arms.  We almost became part of that club - a club nobody ever wants to be a part of.  A world nobody can imagine until you're there and lose your child.

I am not part of that club.  But the line between life and death was so thin.  When I got the news that Luca was being transferred and they were going to do as much as they could to save her, I broke down in tears.  Ian and I held onto each other and sobbed.  The next thing I did, which was pretty much instinctual, was grab my rosary and pray to God that He wouldn't take her from us.  And as we were packing our things at the hospital so we could go to the next hospital, my mind wandered to very dark places.  I thought, "what am I going to do if she dies?  If I have to plan a funeral.  A funeral."  That word...funeral...replayed in my mind over and over again.

We aren't part of that club.  We're part of a very different club.  Another type of club that nobody wants to be a part of.  We have a child with a very rare disorder that non-medical people (and even some medical people) have never heard of.  It will affect her for the rest of her life.  It will affect us for the rest of our lives.

While other people around me are having babies and looking forward to the future, I am mixing medication in a syringe to give to our baby, and looking at her every movement to make sure she's okay. 

A friend of mine sent the following link to me a few weeks ago and it totally describes our lives right now.  Enjoy.

WELCOME TO HOLLAND

by Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome To Holland".


"Holland?!?" you say, "What do you mean "Holland"??? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy"


But there's been a change in the flight plan. They've landed in Holland and there you must stay.


The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.


So you must go and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.


It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around…and you begin to notice that Holland has windmills...Holland has tulips. Holland even has Rembrandts.


But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes that's where I was supposed to go. That's what I had planned".


And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very significant loss.


But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things...about Holland.


© 1987, by Emily Perl Kingsley. All rights reserved. Reprinted with permission of the author.  http://www.ndsccenter.org/resources/holland.php

Before and After

It's hard to believe our baby's transformation.  Here's the process:

When she was first born:

Then, she got sick, and was flown via helicopter from Baltimore to DC.  When we arrived to the hospital in DC, this was where we found her:

Seeing your baby in that condition is shocking, devastating, heartbreaking.  It made me feel completely helpless.  She was on dialysis to remove the ammonia from her blood.  She was on dozens of medicines.  She was ventilated.  She was put into a state of hypothermia to try to reduce the brain swelling from the ammonia.  She had access lines (like IVs) in her scalp, feet, hands, belly button, neck, and groin.  She had electrodes on her head to measure seizures.  And then the basic heart monitors.  She had multiple people in her room all working on her for several days.  We knew she was getting better when she was downgraded to only having one nurse in her room.  Then when her nurse finally could take a lunch break, we knew she really must be getting better.  And then when her nurse was assigned to Luca and another baby, we knew she REALLY must be getting better.  But honestly, at the time those two pictures were taken, I sat there thanking God for that moment, that she was still alive.  Because, truly, we didn't know if she was going to stay with us. And in that moment, I was so grateful for the technology and people who were keeping her alive.

She went about 7 days without responding to us.  We didn't know if the ammonia had left her in a state where she'd never wake up.  We didn't know if we'd ever see her eyes open, let alone in response to us.  Finally, on day 7 of being at Children's in DC, she opened her little eyes.  The most beautiful eyes I've ever seen in my life. 

And now, our baby looks like this:

And smiles huge every morning when she sees us peer into her bassinett.

She is so chubby!  Her growth is something to be grateful for because considering how much her protein is restricted.  She's in the 75th percentile for height and weight - a very proportionate little lady.  And her getting big quickly is a great thing for her transplant - they want her to be as big as possible (not fat, but just a bigger baby in terms of height and weight - more space to do the surgery).

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!

Luca's Birth Story - Part II

You can read Part I here.

I asked to be checked again - and I was STILL 6 cm. This was now at about 11:30pm. I dealt with the pain another 1/2 hour or so, and then I got logical. I thought that either I needed an epidural to help my body to relax, or I would probably end up with a c-section. So I opted for the epidural.

Getting an epidural was something I wanted to avoid for various reasons.  But a big reason was that someone at my old work died from a rare complication from an epidural.  She developed an infection and by the time a person gets symptoms, it's too late to do anything.  She was a first time mom and died.  I didn't know her - but many of my coworkers knew her well.  That story still haunts me.  But luckily in that moment of deciding to get the epidural, that story wasn't in the front of my mind.

Everyone talks about how the epidural guy is always hot. I don't know whether it's because women are delirious and want to get rid of the pressure and any man coming to take that away is amazing, or whether there really is something to it. But I made sure to check mine out - he was cute.

He came in and gave my the epidural at 12:00am. It took about 15 minutes to kick in. I have to say, I didn't love the epidural. In fact, I didn't really like it. It made me shaky and I hated my legs feeling so lifeless. But I loved not having the back pain.


This was me when the epidural kicked in:

I felt some pressure about 1/2 hour after the epidural kicked in, so I asked to be checked.  And wouldn't you know, I was ready to start pushing.  The relaxation between contractions that the epidural provided was exactly what my body needed to progress.

I decided to take a nap - but could barely sleep because I was just too excited to meet our girl!  I slept for about 45 minutes, then hung out, then sent our nurse to get my midwife so I could start pushing.

I started pushing at 2:00am.  Halfway through pushing, I started being able to feel my contractions more strongly, and feel the progress of my pushes.  I could feel our baby girl making her way into the world.  And I am SO glad I let the epidural wear off for the most part.  I ended up watching the progress in the mirror - which is something I thought I'd want to avoid.  When they first set it up, I was like WHOA and totally weirded out.  But then I watched while I was pushing, and could see our baby!  It was totally weird, but was motivating me to push correctly.

I wasn't making much progress so we altered my pushing position a few times before we found one that worked well.  Once I was into that position, things moved very quickly.  Everyone talks about the "ring of fire" when the baby's head crowns.  I can't say it was that bad.  It felt like a lot of pressure, but nothing crazy.  I think again, having the mirror there when she was crowning helped distract me from any type of discomfort because, holy crap, my baby, was about to be born! 

Finally at 4:23am, our girl came into this world.  They put her on my chest, and I was in shock.  She was finally here.  The little girl that had been inside me, doing yoga poses during ultrasounds, and refusing to come out on her own.  She was on my chest, pink, arms and legs flailing, and scrunching up her face to cry.  She was here, and she was ours.

She was having some mucous issues so they took her to the table to suction her better.  Then they wrapped her lightly and handed her to Ian to bring back to me.  I held her, with Ian next to me, and we soaked her in.  As we stared into her eyes, and she stared right back at us, I couldn't help but feel a bond, a love, I had never felt before.  She was alert, bright eyed, and wanted to eat!  She breastfed like a champ on the first try.  And then she quickly went to sleep.  Labor was hard work for her too, apparently.

Those first two days, before she got sick, she was an amazing baby.  She was abnormally alert for a newborn.  She was quiet unless she was hungry.  She slept well.  Those first two days in the hospital were amazing.  Sure we didn't get much sleep, but we were oh-so-content to be together, to finally be a family. 

I hope my labor story doesn't scare anyone.  Were there times that were uncomfortable and painful?  Yes.  But it was pain with a purpose.  A pain that brought me closer to meeting our girl.  Giving birth was an unbelievable experience that I am so grateful I was able to do.  If there was one thing I'd say about giving birth, it would be that women shouldn't fear it.  It's an empowering experience and bringing your baby into the world is an amazing moment!