On having more kids

One of the hardest things for me personally about Luca's medical issues (besides the actual heartache of seeing her go through so much) is that the culprit is genetic.  To be a carrier for a urea cycle disorder is extremely rare.  For two to end up together is even rarer.  How in the world did Ian and I choose each other, both carriers of a deadly disorder?  (And by the way, did you know most people have several genetic mutations?  Genetic testing needs to be more affordable so that people can be tested prior to having kids - then people are at least prepared for the possibilities!)

I had always imagined having multiple kids.  But personally, Ian and I decided very early on after Luca's diagnosis that we would not intentionally have kids in the natural sense.  We would not ever want to put another child through what Luca has been through.  (Note that many other urea cycle parents choose to take the chance.  It is a 25% chance with each pregnancy that the child will be affected.  We made this decision for us, and every couple must make the same decision.  Please do not read my words as judgments towards others who make a different decision.  This is simply what we feel most comfortable with.)

One of the things I was worried about what seeing our friends start having baby #2, #3...etc.  And recently, I have had to experience exactly that.  I thought that I would be upset or jealous.

But instead, I find myself so incredibly happy for them.  I feel like all parents should rejoice when having more children.  You do not have a genetic disorder and your child is healthy - have more!  The more the better!  (Okay but maybe not as many as the Duggars).  

And I actually feel sad when a couple, who has a perfectly healthy child and the financial means to support more children, decides not to have anymore children. 

I hope one day we have more children.  We may go about it differently (we can do genetic IVF to avoid having another child with UCD, or we may adopt).  I look at this face and know how in love with her I am, and think, I want to eventually have a sibling for her.

The ugly side

It took one picture.  I saw it on a very close friend's blog.  A picture of babies, who were arranged by age.  It was like a dagger through my heart. 

I can get over a lot of things about the situation we're in.  I can deal with the fact that we cannot see our friends.  I can get over the fact that we cannot take her out into the public, doing things as simple as grocery shopping.  I get up everyday and see her smile, and keep going.  I try to hide certain feelings, instead focusing on the positive that our baby girl is here, smiling, progressing.

But seeing a picture of babies together - a picture that she should have been in - yeah, that sucks.  A huge lump formed in my throat as soon as my eyes hit the screen.  Then, it all sunk in. 

It's not that people shouldn't be having play dates.  It's not that people shouldn't be excited about their own baby.  It just makes me sad for us.

And, I finally, the picture brought forth a feeling that I have been trying to hide. Jealousy.  It isn't pretty.  I am not proud of it.  But there it is.  Here, in me, it stays.  My eyes hit that screen, and I processed what I was seeing.  And that ugly feeling came out like a ton of bricks.

I am jealous of so many things.  I am jealous every time I see someone around me bringing their new baby home two or three days after delivering.  I am jealous every time I hear about a baby's baptismal party.  I am jealous every holiday when families all get together, and we are either stuck in the hospital, or confined in our house because we cannot risk having friends or family over.  I am jealous when I hear that a baby is doing any normal baby experience, like, eating.  I am jealous when I saw pictures of a new baby on Santa's lap.  I am jealous of any pictures of play dates.

Then, there is the whole slew of jealousy towards the moms.  I am jealous of moms who have had time to do anything for themselves.  I am jealous of moms who can be out and about with their baby.  I am jealous that other moms gets to exercise, and lose the baby weight.  I am jealous of parents who can call a babysitter to come over, without first having to give a full day of training.  I am jealous when I hear of anyone talking about getting pregnant for their future kids, knowing that while we are able to get pregnant, we cannot do so without a major risk of having another child with UCD.

With all of this jealousy, comes anger.  Anger at the world really.  I have hesitated saying it, but part of me is angry with God.  I get angry when I hear people complain about stupid shit - like having a rainy day on their caribbean vacation.  I am angry that people take their kids for granted.  I am angry when people brag everyday on facebook about some developmental milestone their child has reached.  I am angry when people ask when we'll have more kids.  (That one is two-fold - angry that they'd be thinking about us having more kids when we are up to our eyeballs with taking care of just one, and angry that after hearing the disorder is genetic, they don't think that this is probably a touchy subject for us.)  I am angry that we will not have more kids naturally - that although we are able to - we logically cannot put another child through this.  I am angry that this experience has taken our lives, and turned them upside down, done a black flip, and turned them back sideways. 

These feelings are not something I can just hide.  I have been trying to push them aside.  But in that one picture, those feelings came pouring out.  Although I may not be proud of those feelings, I am not ashamed of them.  They are real.  They are a part of this journey.  And while these feelings may always be there to some extent, I will try my damndest to heal.  To focus on the positive.  To focus on our beautiful baby girl.  To focus on how far we've come.  But I will allow myself to feel things, to absorb where these feelings come from, to not hide them.  I think the only way for time to heal things, is to accept our lives for what they are.

While there is so much positive in our lives, there certainly is an ugly side.  I just want that ugly side to be the minority in my life.  To be able to stay positive the majority of it.  To look down, see Luca smiling, hear her giggling, kiss her chubby, honey scented cheek, and breathe a sigh of relief.  A sigh of comfort, that we are all here.  Together. 

She is my comfort when this horribly ugly side comes out.  I never knew how much you could depend on a little baby.  But in that moment, when the ugly side comes out, I think I am just about as dependent on her for comfort as she is on me.  And all I want to do, is immediately breathe her in, snuggle her, and look at what a miracle she is.

Feeding Tube Questions Answered

First off, if I suddenly go MIA from the blogging world, it normally means that we're back in the hospital with Luca.  That's where I have been.  She was admitted 1 week ago today, and we were discharged last night.  Hoping to get back to blogging regularly now that we're back home.

I posted about our experience with Luca having a feeding tube.  You can read the original post here.

A few people asked some questions.  I am all about raising awareness for Urea Cycle Disorders, and everything that comes along with it.  As a part of that, I am open to answering questions to make it seem more real, less scary.  Along the way, if you have questions, please feel free to ask.  So here are the few questions, answered.

1. Will Luca ever get the g-tube removed? It is our hope that she will have it removed eventually.  However, she will need to be eating/drinking all of her food by mouth and taking all of her meds by mouth for several months before it can be removed.
2. How will it effect her long term?  People can live their entire lives with g-tubes.  People have them for all sorts of reasons.  There really isn't anything about having a g-tube that will inhibit her from doing anything.  She can bathe, swim, play sports.  She may not want to wear a bikini as an adult - but so be it.  While we don't want her to have it for long, if she does need it, it will be normal for her to have it because it's all she's ever known.  Eventually when and if we can have it removed, it will leave a little round scar (very small in comparison to her massive transplant scar).
3. I've seen a g-tube on another child before and it doesn't look like Luca's.  What's the difference?  We were lucky that the doctor inserting her g-tube was able to go straight to a MIC-KEY button.  That is what Luca has - a button.  The advantage to this is that we can detach the tubing, and it sits flush against her skin, just like a little button or port.  In the picture I posted, the tubing is detached and the button sits nicely against her skin.  Normally, people start with a tube that comes straight out from their bellies, and therefore it cannot be detached.  Once the skin heals around that tube, they normally can upgrade to a MIC-KEY like Luca.  It just depends on the doctor, and the specific case whether they go straight to a MIC-KEY, or start with just a plain old tube.

Feeding Tubes

Another UCD mama found this article awhile ago and I'm so glad she shared it.  Here is the link:

What it is like to have a child with a feeding tube

To read about why Luca needed a g-tube in the beginning, you can read this post.

When her geneticist talked to us about her possibly getting a feeding tube, we were apprehensive.  Some UCD parents opt to use an NG tube (a mini tube that goes up the nose, into the gut).  He explained that often they do this to avoid having to get a g-tube - but he also explained that ultimately, the majority of them end up coming back months later to have the g-tube inserted.  We went over the pros and cons, but ultimately decided to go with the g-tube because Luca, at just 2 weeks old, was already yanking the NG tube out of her nose (and giving her nurses more work by having to insert it over and over again).

We were nervous about it.  A hole in our baby's stomach?  Ew.  And freaky!  But when she came out from the procedure and we saw her belly, it looked so neat and clean on her cute little belly.  Here it is (a pre-transplant photo):

Then, we had to get used to it.  The first time it yanked out, I'll admit that I freaked out a little bit.  And the first time we had to change the button (which basically means just take the gtube out, and insert a new one), I was TOTALLY freaked out. 

And I'm sure you're wondering what that's like.  So here is the analogy her GI doctors used: it's like an ear piercing.  Except for an ear piercing, there is a little backing to keep it in place, for Luca, there's a little balloon with water that acts as the backing.  So you take the water out of the balloon using a syringe, then you take the earring out, put a new earing through the hole, and fill the balloon back up.  Easy peasy.

And in hindsight, getting that gtube was the best decision.  Luca is still not interested in eating by mouth.  Why?  Well, we know she gets hungry now (we can hear her belly growling sometimes) so we know she should be sensing hunger.  But imagine that you never wanted to eat, and then all the sudden sense hunger.  Oh, and add in that it's been a long time since you've filled that hunger by eating.  She is confused?  As if that isn't enough, she's been ventilated, had her mouth, lungs and throat suctioned, been given medicines by mouth, etc.  She's had a lot of bad experiences with things being in her mouth - it's no wonder she reacts negatively when we try to feed her.  Besides the fact that Luca is still not interested in eating by mouth, the medications are a breeze to give to her.  And she takes a LOT of medication.  It also has its perks: she does not wake up at night to feed because we pump food throughout the night.  We do not have to wake her to take meds. 

She can take baths with it, she can even swim with it as she gets older. 

These are her current medications.  This is majorly reduced from when we first came home post-transplant.  One by one, we're eliminating a medication.  But it's a very slow process.  Keep in mind, this excludes the one IV med we give her every 8 hours, and these are the meds from 8am to 8pm (we also have more meds to give at 10pm and midnight).

I think it is the hope of every parent (of a child with a g-tube or feeding tube dependent) that one day, your child won't need the device anymore.  And that is our hope for Luca.  We hope that one day, feeding will just click for her.  But for the time being, we are so grateful she has something that makes us easy to deliver nutrition and medications.


Do you have any questions about feedings tubes?

That Day

I am often asked to describe what happened that day.  In the beginning.  So here it is - every detail we can remember. 
August 7th -

I go to the bathroom.  It takes me about 10 minutes just to take a pee break.  When I walk gingerly back to the bed, I mention that I think we should stay the second night.  I do not feel quite ready to leave.

I went back to sleep.  I woke up to the sound of her sweet cry.  I called Ian's name to get her so he could bring her to me.  I was still too sore to get up and down from the bed.  I pushed the buttons to make the bed more upright.  I set the pillows up on each side of me to make it more comfortable for her precious body.  As soon as he picked her up, her whining stopped.  She looked around, bright eyed.

I put her to my breast and she began screaming.  This was the story of the rest of the day.  Up to breast, crying.  Eating, crying.

Our pediatrician told us that she's a big baby - maybe she needs a supplement until I make enough.  Is she cluster feeding and not getting enough?  Is she tired?

She falls back asleep.  She must have been tired.  This is the last picture I have of her by herself on that day:

Family arrives.  One by one, people hold her.  By 2pm, she is back awake.  Crying.  I try feeding her.  In between feedings, she is passed from person to person.  Then handed back to me to soothe her.

"Try feeding her again.  She must be hungry."

I try again.  Ian holds up the blanket so I can feed her with family around.  She fusses.  Is she not hungry?  Maybe I need a lactation consultant to come and work with me - maybe she isn't latching properly.

My brother holds her afterwards.  He's talking so sweetly to her.  We're taking pictures.  "She just spit up I think."  I thought in my head that that did not seem right.  She was over 24 hours old, had eaten plenty of times, and had never spit up.  And, it had been over an hour since she last ate.

Back to fussiness.  I hold her, rock her, feed her again.  More spit up.  I mention it to the nurse.  "It is just spit up.  Babies have reflux."

Most family left by 7pm.  She hadn't slept since she woke up at 2pm.  "That's odd for a newborn" I thought.  Maybe she was overstimulated.  She wasn't fussy anymore.

We held her off and on.  I fed her periodically.  Only for her to spit up an hour or two after each feeding.  At 9pm, I mentioned it to the nurse that she hadn't slept since 2pm.  "She looks content."  Those words still ring in my ears. 

I fed her at 9:30pm.  Ian and I decided to sleep as long as she was content.  It makes me cringe knowing that I went to sleep.  I closed my eyes.  I woke up shaking uncontrollably.  I was nauseous.  I was sweaty, but felt freezing.  And the shaking...I couldn't make it stop.  I went to the bathroom and came back to the bed.  I woke Ian up and told him I didn't feel well.  Then within a few minutes, at 10:30pm, I heard her making a funny sound.  I reached up and flipped her to the side where she spit up.  Except, I knew it was not just spit up.  "Maybe we both have an infection.  I don't feel right.  Something is wrong.  And I think something is wrong with her."  I called the nurse in.  I expressed that I was nervous - that it seemed like she had thrown up, and that I, too, didn't feel well.  She took her temperature - it was lower than normal.  We wrapped her with an extra blanket.  "Get some sleep - she is content.  At 12am when I take her for her discharge tests, I will check her out.  And your shaking is all from the hormones."

August 8th-

At 12:30am, our nurse came in and took her.  I stayed awake.  I was worried.  And I couldn't stop shaking.  Ian slept.  My mind wandered and I tried desperately to close my eyes.  At 1:30am, our nurse, Lisa (I'll never forget her name), came and told me that her temperature was still low after being under the warmer for a half hour.  "She looked kind of shaky.  I went ahead and tested her glucose and it was very high.  I've already called your pediatrician and they want to get a NICU consult.  She has had more emesis as well."

I went into panic mode.  I freaked out.  I knew in my gut that something was wrong.  I never in my wildest dreams knew just how wrong that something was.

Ian said to sleep until we knew more.  He did sleep.  I couldn't.  At 2:30am, the NICU nurse came in.  "I don't feel comfortable leaving her here.  We can monitor her more closely in the NICU.  She's doing some funny things that don't seem right to me." Funny things like what?  "I think she's having seizure like activity.  The smacking of the lips is not normal."  When will we know more?  "Before my shift is over at 7am, I will come back and update you."

I burst into tears.  Ian held me.  We both cried.  We didn't know what was wrong - but we knew the fact that it had been 12 hours since she had slept meant something was wrong.

At 4:30am, the door to our room opened.  A man came in with two women with him.  He looked frazzled, anxious.  "We need to transfer your daughter right away.  Your daughter is sick.  We think she has a metabolic disorder.  Her ammonia levels are in the 400s and it is extremely dangerous.  I wish I had more time to spend with you - but I need to focus on getting her where she needs to go.  University of Maryland is expecting her and is starting to make the medicine for her."  Is she going to be okay?  "I don't know."

Those three words.  I don't know.  They haunt me. 

I turned to Lisa, when can I be out of here?  "Right away.  Let's get you ready."  They all left the room.  Ian came and held me as we both cried.  After we had a breakdown, we got down to business.  We packed up our stuff.  I acted almost instinctively as I grabbed my rosary in the process, and I started praying out loud.  I made every bargain with God I could possibly think of.  Just please, save our baby.  Desperation.  I had never experienced it before that moment.  I may have thought I'd been desperate before - but really, that was the first time I'd experienced it.  When you have nothing left, and everything is out of your hands, you offer anything and everything. 

I had given birth 48 hours ago.  The pain I had from labor was nothing.  All I cared about was her making it.

Once we were packed and the car loaded up, we arrived at the NICU to hold her one more time.  She already had wires coming from her.  Two IVs, heart monitors, a pulse oximeter.  Everyone seemed to whisper as we walked past.  If I knew then what I know now, I would've known just how serious she was by the whispers and stares.  "Those are the parents of THAT baby" is what they were thinking.

They put her in my arms.  We whispered to her to live, to please live.  We whispered how much she was loved.  I asked if I could ride with her in the ambulance.  No.  That should have been another clue as to how serious she was.

When the transport team was ready, they whisked her up out of my arms, but not before Ian and I each gave her one last kiss.

Then Ian ran to the car to pull it up.  A NICU nurse got a wheelchair to wheel me down.  I sobbed the entire way.  I don't even know what her name was.  But as I sat in a wheelchair in front of the hospital waiting for Ian to pull the car up, I sobbed my eyes out.  "This isn't fair.  This shouldn't be happening."  She agreed with me.  She rubbed my shoulder and said to allow myself to mourn the loss of what should be.  I stood up and she hugged me.

We raced to the next hospital.  As we were taking a back route, we looked up over the ramp to the highway and saw the ambulance with lights on.  We cried even harder.  The sun poured into our car on the ride there.  We were silent and crying.  We held hands.  I called every person I could think of to start praying.  I left voicemails, sobbing, asking friends to start praying.  It was Sunday.  Please go to church and pray.

We got there at the same time as the ambulance.  I walked in as quickly as my body would allow.  Our families met us there.  We got to the floor before she did.  I saw the team transporting her carrier down the hallway.  One of the transporters said "you made good time" when he saw us there.  Funny how I can remember such specific things from that day. 

We waited in the family waiting room.  We all cried - not wanting to think about what could happen that day.

Then, we started learning about what was happening.  Three words were uttered that have changed our lives forever: Urea Cycle Disorder.  In the middle of the discussion with these new doctors, I turn around to see her pediatrician.  He had heard she was transferred and came immediately.  He walked up to us.  I burst into tears.  He put both hands on my shoulders and said "I am SO glad you didn't go home a day early.  You did good mom."  And gave me a big hug.

We stayed at the hospital until about 8pm.  I was then told I had to go home - my family and Ian practically dragged me out of there.  I hadn't slept in over 48 hours.  I was running on empty.

I got home.  Without our baby.  Walking through the door with empty hands was devastating.  I got my breast pump out - I didn't even know how to use it yet.  I sat in her room and pumped. 

August 9th-

We finally went to sleep.  It wasn't long before the phone was ringing.  And it continued ringing every 30 minutes after that. 

"Remember how we said if the medicine didn't work, that she'd need to have dialysis?  Well that needs to happen."

"Our dialysis team was called in and they are not comfortable performing dialysis on her.  We need to transfer her."

"Her ammonia level is now 535." 

"We are transferring her to Johns Hopkins."

"Johns Hopkins is taking too long to get back to us.  We need to transfer her NOW.  Children's, in DC, is ready for her."

"We're calling for consent for airlift to Children's."

3:30am and they are telling me the risks of flying the helicopter.  Do we have any other option?  No.  Do it.  "We need to get off the phone now and get in the air before the fog comes in."

3:45am Children's doctors begin calling me.  Getting consent before she arrives for surgery to put a dialysis catheter in her neck, a picc line in her groin.

4:00am Children's doctors are calling about whether I want her put into a hypothermia state.  What?  "It's a trial but could limit the brain damage she suffers."  I immediately call our on-call pediatrician who we've never met.  I send her an email with the paperwork for the clinical trial.  She pages our actual pediatrician.  At 4:30am I am talking to our pediatrician, reading through clinical trial information and evidence to support doing it.  [How many pediatricians would do this?  Hardly any.  This is why I recommend our pediatrician to every person in the Baltimore area.]  He finally said, "It makes sense to do this.  All I can say is that if this were my child, I would say to do it."  And so we did.  We signed the consent forms and scanned them back to Children's.  As I was discussing it on the phone with Children's, the doctor said "Oh I have to go, she has just arrived."  I could hear a lot of commotion in the background.  "She's here."  We later found out that she was Children's first hyperammonemic (high ammonia) patient for hypothermia to be used.

She had made it there, alive.

Ian and I slept for a couple hours, as best we could, and then woke up and packed up everything.  We sat quietly on our way to DC.

We parked.  We walked in and checked in at the front desk.  We were told where to go.  We took the elevators to the 6th floor.  We checked in at the NICU front desk.  They told us what room to go to.

We walked by dozens of doors, looking in at the babies.  Most of the rooms were dark and the babes were sleeping.  We'd see a nurse here and there in a room.  All of them seemed to be private rooms - maybe just for babies that were contagious?  We finally got to her room.  It was full of machines, doctors, nurses.  It didn't look like any of the other rooms.  It was busy.  Lights on.  People barely noticed that we had entered the room.  The nurses (we would later figure out that there were 4 nurses taking care of her for the first 24 hours) did not really explain much.  They waited for her doctors to talk to us.

 She had the best view from her room.

Doctors came in one by one introducing themselves.  We felt overwhelmed by all of it.  One of the head doctors leaned over her crib as we watched her, ventilated, in a coma, and said "Congratulations.  You have a beautiful baby girl.  But I have to tell you, your daughter is sick."  I know.  "No, she is really, really sick."

During rounds, when all of the doctors and nurses and specialists come together to discuss the past 24 hours, and the next 24 hours, Ian and I were inundated.  We looked around - we couldn't all fit in her ginormous room.  There were too many people involved.  Sixteen doctors and nurses.  Geneticists, neurologists, nephrologists, pharmacists, pediatricians, social worker, case manager. 

We learned that by the time she had arrived at Children's, her ammonia had gone up to 585.  Normal range is below 70.  We were told we were lucky that it hadn't gone into the thousands.

She was on hemodialysis to clean her blood of the ammonia.  Her body was cooled to a temperature of 94 degrees to reduce brain swelling and try to prevent serious brain damage.  Her ammonia came down to a normal level within 24 hours.

What was next?  Her NICU doctor said, we wait and see if she wakes up.

The next week was a roller coaster.  But 6 days after arriving to Children's in a helicopter, she graced us with opening her eyes.  And 31 days after she arrived at Children's, we brought her home for the first time.  She was 34 days old.

There are other details to this story and about her stay in the NICU that I could go on about, but I needed to get out the process of how she ended up there and what it was like when our world came crashing down.  To this day, I firmly believe that me waking up shaking uncontrollably was some deep motherly instinct, that my body was telling me something was wrong.  I have kept in touch with the head of the NICU who acted so quickly and focused on getting Luca where she needed to be.  That nurse who we had - she did the absolute right thing in checking her out.  She was magnificent in getting us out of there so we could make it to Maryland at the same time as Luca.  And her team at Children's - I cannot say enough about them.  They will always hold a special place in my heart.

Home and Adjusting

Hi!  In case you don't follow us on caringbridge (you should!), you've missed the news that we are home!  We brought Luca home on Thursday and have been adjusting to having our little girl home again.  Our life consists of lots of meds and doctors appointments - but also regular baby stuff like soaking in sweet baby cheeks and snuggling with her as much as possible.

I've been wanting to get back to this blog over the past several days and have so much to share about this whole experience.  I want to get it out for therapeutic reasons.  But quite frankly, I've been so quiet since hearing about the loss of Captain Snuggles.  For those who don't know - Captain Snuggles suffered from a different form of Urea Cycle Disorder.  He was transplanted when he was 3 months old, and has been hospitalized for the past 5 months since he was transplanted.  His mama held him as he left this world on Monday.  Hearing this horrific news took my breath away and rocked me.  This terrible disorder took this precious baby away.

And honestly - I've been frustrated with people on twitter and elsewhere.  Complaining about stupid, mundane, ridiculous things.  "OMG what color [enter some material thing] should I get?  It is TOTALLY STRESSING ME OUT?!" 

I don't get it.  I get that we all have different perspectives, and it's all about what we've experienced.  But let's all open our eyes a bit.  Let's look at the big picture.   

All of this is just to say that I'll be back soon.

Article

Hi all!  If you haven't been following our caringbridge site, I'll give a very brief update.  Luca and Ian had their surgeries on December 14th.  Luca did beautifully until December 19th when she required emergency surgery, and then another emergency surgery on December 20th.  Since then, she has been recovering, slowly.  Ian was discharged on December 20th and has been recovering outside of the hospital.  We're hoping to bring Luca home in the next week or so.

And 2 days post transplant, I met up with a writer from the Washington Post, along with her metabolic team at Children's National Medical Center in D.C., and shared our story.  Here is the article as it appeared in today's paper.

Article in Washington Post

And because I'm obsessed with pictures our close friends took, here's one for you.

Liver Transplant Updates

Hi all - Both my loves are currently in their operating rooms.  All updates will be made on the caringbridge website.  Thank you all for the well wishes!

http://www.caringbridge.org/visit/lucamariethomas

Still in the hospital

Doesn't look like our L will come home before her transplant on Tuesday.  Seems as if she'll be transferred via ambulance on Monday to where she'll have her transplant.

We were all set to come home today, and then that picky ammonia went back up.  So to be safe, we are keeping her in the hospital so she can be stabilized and STAY stable for surgery.

Just like that, rug pulled out from under us.  I'm really trying to stay positive, but I'm feeling like debbie downer right now.  Feeling like this disease has robbed us of so much. 

All I can say is, maybe we're getting a whole lot of bad luck right now because better things are coming...that better be it!

Tuesday 9pm Update

They tried ALL DAY to get a new blood draw and were unsuccessful until about 6pm.  12 hours from when we decided to get a 2nd draw.

The result...ammonia is down to 78.  And we're thinking it is even lower than that because of the way the blood was drawn.  But because it took so long to get, emergency meds were started through IV and protein was removed from her food.

They were going to put a PICC line in tomorrow (this was when we were thinking she still had high ammonia levels). But with a number like 78, we are trying to avoid it (because of the risk of infection, even though the risk is small).  So the plan is to take a look at her plasma amino acids and get another ammonia draw tomorrow morning at 6am and make a decision about our next steps tomorrow afternoon.

Hoping for low ammonia levels going forward!

To answer a question: they WILL get her ammonia levels down more before she is discharged.  IV meds normally bring her ammonia levels down within 12 hours (sometimes even sooner, and especially with a number like 78, probably will bring it down within a couple hours).  But if she became hyperammonemic again before surgery, I don't think they'd be able to take her into surgery (but I think it would depend on how high her ammonia level was).  But with ammonia levels at 78, they would certainly be able to move forward with surgery.  I think the bigger thing is making sure she is HEALTHY, without any colds or viruses.  Any colds, viruses, or other infections will prevent her from getting her transplant next Tuesday.

Have any other questions?  Definitely let me know!

P.S. - Another lovely UCD mama posted a beautiful story on her blog: The Chosen One. 

Our second home...the hospital

L was admitted again yesterday for high ammonia levels.  What clue did she give me...taking a 2 hour nap instead of an hour nap.  That's it.  She was still alert, smiling, cooing.

I hate this disease.

Upon arrival, ammonia (which was drawn on the first try - woohoo!) was 140.  Not too bad.  Intralipids and fluids were started, and feeds were cut in half.

This morning's blood draw - ammonia was 209.  We are waiting for a redraw because we don't really believe the 209 number.  Will update once I know more.

Praying that her ammonia comes down quickly.  If it turns out that the 209 is correct, IV meds will be started and food will be stopped until the ammonia comes back into the normal range.

Other than the ammonia, she is still acting happy.  Just exhausted - it really is impossible to get sleep in the hospital (for baby and mama).  Between vital checks, monitors beeping, and various doctors coming in and out to examine her, we barely get more than 1-2 hour sleep sessions in.

9 days is all we went between hospitalizations this time.  So happy we're moving forward with her transplant.

12 Days

It seems appropriate that we're in the holiday season, and like people count 12 days before Christmas, we are counting 12 days to something very different.

In exactly 12 days, Luca will get an early Christmas present: a new liver from her Daddy!

Hang with us as we go through a roller coaster ride of emotions.  We're both relieved that a date is set, excited for Luca, and as nervous and anxious as we've ever been in our lives (which says a lot for me considering my anxiety problems).

So what do the next 12 days entail for us? 

Well for starters, keeping both my loves healthy!  That means no visitors except immediate family.  It means cooking good nutritious meals for Ian.  It means no skipping a day of vitamins for either of them.

It means getting a Christmas tree ASAP so we can enjoy it for over a week.

It means getting into the Christmas spirit overnight since L will be hospitalized for the big day.

It means getting lots of stuff organized: the house, bills, Ian's time off from work, housing arrangements in DC, arrangements for Tessa, money.

It means my two bestests are coming into town to be with me while my two loves are being operated on.

It means I MUST write the long list of Thank you Notes before their surgeries because I know we'll have a new long list after their surgeries.

Lots to get done...12 days to do it....anddddd GO!

A Rainy Wednesday

Inevitably when we come home from a hospital stay within a few days we have a freak out moment. Having just been scared by a recent episode, we are super observant of L's behavior.  Like last night for example, L was cranky for a couple hours. I automatically thought we needed to go back to the hospital. Just as we were getting ready and packing things, she calms down and begins smiling and chatting away. So what do we do?

Last night we decided to watch her.  She had trouble going to sleep and was unusually cranky trying to get to sleep.  But this morning, she woke up and has been happy.

Crankiness can be a whole range of issues.  Is she teething?  Is she overly tired?  Does she not feel well?  Or, if she really having an issue?

The fact that she woke up happy today makes me think she is fine.  So back to waiting and watching.  I really do hate this disorder.  I so wish there was a way to do a quick blood test at home to see if she's okay (like a diabetes home test - a quick prick). 

Today, I am running errands and going for a much needed massage.

Saturday Update

After her emergency plan was started, L's ammonia levels came down within hours.  Food was started back up the next day.  Then yesterday (Friday) she went to full feeds and came off all IV meds.  All day yesterday and today, she was back to her normal self.  Last night's blood draw came back as 34 and this morning as 40 - two perfectly acceptable numbers.

The awesome news...we got to come home today.  We're getting things organized and are happy we'll have all day Sunday to rest up and spend time together before Ian has to go back to work on Monday.

There really is no place like home.

Wednesday night update

Her ammonia levels went back up to 183.  So changes have been made.  All food is stopped.  Emergency meds are given through IV.  Next ammonia check: 6am tomorrow.  Will keep you updated.

Back again

Luca is back in the hospital.  Yesterday, she continued her fussiness and my gut was telling me she was fine, but I was nervous and so we took a trip down to DC to get her checked out.

After 1.5 hours of trying to get an IV in to draw blood (and lots of screaming and sweating from Luca), they finally were able to get enough blood to test her ammonia.  That came back at 206.  That is too high so she has been admitted.

Also, her white blood count came back high, indicating she has some type of virus.  Likely a cold of some sort.

They repeated her ammonia test at 2 am and 6am - they came back at 128 and 133.

So far, they are keeping her diet as normal, and adding in a couple extra doses of medication, along with giving her fluids and intralipids through IV.  We'll be here until the virus clears up and her ammonia levels return to acceptable levels.

Praying that her ammonia levels continue to go down on their own and that her body quickly heals from this virus.

Fear

Don't feel like hearing a pity party?  Well then come back another day.  Because today, it's a pity party here.

I'm having one of those days where I can barely breathe.  The fear, it is consuming me.  Luca was fussy yesterday and again today.  Unlike other parents, I can't just say "oh she's having a fussy day."  The fact is, she may just be having a fussy day like any other baby.  But then, the fussiness could be a clue that she's on the verge of a metabolic issue.  And the constant worry consumes me.

Every move she makes is under a microscope.  Did she sleep too much?  Did she sleep too little?  Was she just staring at that [baby object of some sort] too long?  Is she as alert as she normally is?  Is she taking too long to console?  The questions just play on repeat like a record is stuck.

And then, I hear of a family who has recently lost their 18 day old baby.  He had a urea cycle defect and did not make it.  My heart aches for them, knowing all too well that that could've been us.  And in the same instant, thanking God that Luca is here.

I have tried to find another family who has a child with CPSI.  I have found many who have some type of urea cycle defect (hi!!) and it has been incredibly helpful to find others in similar positions.  But I haven't had much luck in finding another family with Luca's specific defect.  I couldn't understand why until I looked into it more.  It's because neonatal onset (in normal words, a baby who presents with symptoms in the first few weeks of birth) of CPSI normally has a very dreary outcome.  Babies with CPSI don't normally make it through that initial period.  And that, that scares the living shit out of me.

So while I sit and have a pity party of why us, why does Luca have this?, I also sit and think, why? how did she make it through that initial period? 

As parents, when our child is hurt or sick, we want to make it better.  We give them medicine, cuddle and love them, and within time, all better.  But any person that has a child with a life-threatening ongoing illness can't do this.  I do everything I can - I set my alarm clock for every single feeding, medicine, etc. so that she is on time to the minute.  But at the end of the day, she still might have a metabolic issue.  The most common misconception about Luca's condition is that since she's out of the hospital, she's all better.  Oh and people say the medicine must make her all better.  It's not really like that at all.  Yes, L is no longer in a crisis state.  But that could change at any hour of the day.  The medicine helps, it doesn't cure.

I hate this disorder. I don't wish it on anyone. I hate that my daughter will never have a normal life. I hate that we could do everything in our power, the doctors can do everything in their power, her transplant could happen and the surgery could go beautifully. And at the end of the day, we still might lose her. And that, that fear, suffocates me.

More Questions Answered

I posted lots of answers to various questions here.  This is part 2.  I'm sure there will be other parts as well.  And there have been a lot of questions about breastmilk, breastfeeding, etc. that requires its own post.  Also, an answer to the question "how are you holding up" will have to be a separate post.  Any questions you'd like answered, please feel free to email them to me, or post them in the comments section.

Did you know anything was wrong during your pregnancy?
For those who are new here, I documented my pregnancy on this blog.  Other than some heartburn and an episode of passing a kidney stone, I had a very smooth pregnancy.  So incredibly smooth.  I was on cloud nine and totally unaware that our lives would get flipped upside down when our lives should be the happiest, most exciting.

Would any testing have picked up the defect in utero?
The specific defect Luca has is called CPSI deficiency of the Urea Cycle.  Experts estimate that this specific defect of the urea cycle occurs anywhere from 1 in 60,000 to 1 in 100,000 people.  Genetic testing done in utero looks for the most common diseases and defects and most certainly would not have found this.  In order to find it in utero, you'd have to be specifically looking for this defect.  Her pediatrician said that if they were to add 100 diseases/disorders to prenatal testing, this still probably wouldn't be added because of its rarity.  So yes and no - yes you can figure it out by looking specifically for this genetic defect, but no ordinary prenatal testing would have picked up on it.

How will a new liver help Luca/ How will Luca's life be post transplant?
A new liver that has the working enzyme to process protein will change L's life drastically.  Her body will be able to process protein normally which means she'll have a normal diet.  We won't have to watch every move and wonder whether that sneaky ammonia is rising in her body.  As a reminder, Luca doesn't really ever feel hunger because of how frequently we feed her, and because of the defect itself.  The hormone that sends the signal for hunger is located right next to where she's missing the enzyme to process protein - and often this hormone is messed up.  A new liver will likely increase L's hunger drive.  A new liver will also allow us to feed her less often, allowing her to feel hunger. 

It is very difficult for parents with kids with this disorder.  Imagine always needing to know what goes into your child's mouth.  The times kids chew on crayons - did you know normal crayons have protein in them?  Many parents have to order special protein-free crayons.  And kids will be kids - they will eat something when you aren't looking, something that might contain protein.  Imagine if L ate a scoop of peanut butter or a piece of chicken without us knowing.  It could be deadly for her.  It'll make life easier knowing that she can have a normal diet. 

Did you take off from law school?
Yes!  Once L was transferred to DC and we were told about how sick she really was, about predictions for how long she'd be hospitalized, and about how extensive her care would be after discharge, it was a no-brainer.  I have taken a leave of absence and will hopefully go back to finish my last year either summer or fall of 2011.  Only 21 more credits until I'm finished!

Breaking Point

I normally am pretty good about our situation.  I normally think, well this sucks, and then I get on with my day because I don't want to miss the awesomeness that our baby brings to our lives.

But today, today was not one of those days.  Today was a day that brought me to crying right along with Luca.

She's been one cranky baby for the 3rd day in a row.  What's the big deal?  Babies get cranky.  I get it.  But for Luca, irritability can be a sign that she isn't stable.  It could be a sign that her ammonia is rising.  Irritability, vomiting, lethargy - all signs of rising ammonia.  So for me, the past two days have been stressful.  I've been watching her extremely closely.  And when she's been crying for awhile, I think "okay, time to go to the hospital."  Then, then, then...what does she do?  She begins smiling for the next half hour.  Little shitbag.

So today, when I woke up and realized we were in for another cranky day, it was back to worrying.  And finally, I lost it.  She was screaming, and I lost control of my emotions and sobbed right along with her.  I picked up the phone and called Ian.  Through my tears, I said I needed help, another set of eyes to help me determine whether she's okay.  He came home right away and took her off my hands.

We think she's cranky because of two white spots on her gum - as crazy as that seems, we think she's teething ridiculously early.  But apparently, I had 2 teeth at 2 months and 4 teeth at 4 months - so maybe she's following in mama's footsteps.

I hate this disorder.  It makes me question every move she makes.  Instead of just thinking "hmm, maybe she didn't sleep well" or "maybe she's teething", I automatically think "maybe that devil ammonia is in her body."

Ugh, mama needs a hug.

Frustrated

There are so many issues with having a child with a rare condition.  I haven't met a single non-medical person who has heard of Urea Cycle Disorder (or defect, or deficiency).  People ask why Luca was in the hospital for so long.  I say "she has a metabolic disorder in which her body cannot process protein - it's a life threatening illness that does not go away." 

I cannot tell you how many people have responded with "oh so she has reflux?"  People don't get it.  But why would they when it's such a rare disorder (although not as rare as you'd think).  This disorder needs more awareness.  There are estimates that 1 in 10,000 people has a UCD, whether diagnosed or not.  There is also information that suggests that about 20% of SIDS cases are really metabolic disorders that weren't diagnosed.

My frustration today is that we have so much fight getting her medications.  Her medicines aren't ones that many pharmacies have heard of.  In fact, where we get her most important medication from, she is the ONLY patient they have ever had to order this medication for.  They know both me and Luca by first names, and we've become friendly with all of the pharmacists there because of how important her medicine is.

We found out that one of the medications we had filled wasn't filled properly.  You see, our pharmacy had to special order it, and the manufacturer they got it from shipped a powder that wasn't trustworthy.  That's why Luca was back in the hospital for 2 nights - all because the medication wasn't pure, as close to 100% pure as possible. It had a filler in it.  Scary!

So now we've tried tracking down the medication from another pharmacy - a pharmacy that can special order it from a more trustworthy manufacturer.  It's been a constant battle.

We thought we found another pharmacy to do it - and then I followed up to see when the shipment should arrive, only to find out they had ordered a different brand.  That different brand is the same one that provided us with non-trustworthy powder last time.  Back to square one!  The doctor's office called the new pharmacy to ask why they hadn't ordered the brand they had specifically asked for - the pharmacy explained that they ordered the cheaper version.  Well, that's ridiculous!

So now they've ordered the correct version - but it will take 10 business days to arrive.  Now we have to drive over 1/2 hr to a different pharmacy that actually has the correct med in stock. 

See this craziness?  All of this madness just to keep this little girl healthy and happy!