Please Don't Call Me a Mutant.....

At our Tuesday Liver PowWow we also received confirmation of Peanut's Alagille status. Olivia is positive for 1 DNA Base Pair substitution at location 235 of the Jag1 Gene. Instead of a Cytosine nucleotide at that position, she has a Thymine nucleotide. Now think about this for 1 minute. There are 3 Billion total base pairs in the whole human genome, yet 1 lousy mistake/change has created ALL of Olivia's medical issues -- Heart, Liver & Kidneys.

What are the odds?:

• Winning a State Lotto 1 in 18 million
• Getting in a plane crash 1 in 11 million
• Getting struck by lighting in your lifetime 1 in 7000

Kind of changes your perspective on things eh? .....

Ok let's back up a bit and talk Genetics and DNA to understand exactly what is happening here. Our DNA is basically only made up of 4 different molecules :

• A -Adenine
• T - Thymine
• G - Guanine
• C - Cytosine

These Bases are strung together into

23 long 'strings' which are know as Chromosomes. Along the length of each Chromosome different segments are what we commonly call Genes. As we all know, Genes are what controls almost everything about us, Hair color, Eye color, Height, Brain development, Organ development, etc.

Each Base matches up with it's

corresponding partner and only that partner, creating Base Pairs and what we know as the Classic Double Helix of DNA.

• A with T
• G with C

These base pairs that make up our

DNA/Genes are basically the instructions on how to build and run our bodies. Each group of 3 base pairs codes for an Amino Acid which are the building blocks of proteins. Each gene when activated will then create sequence of Amino Acids which fold into a protein that has a specific function -- building cell walls, assembling more complex proteins, assembling hormones, etc.

The trick is that there are thousands of Genes on each continuous Chromosome, so there have to be certain areas that label the start and end of a certain Gene. These areas are referred to as Start and Stop Codons -- a collection of 3 bases in a specific order. This is where the Little O has her mutation. A normal Jag1 Gene consists of just over 36,000 base pairs, creating a protein of around 12,000 amino acids. Olivia's Jag1 gene has a T (Thymine) molecule where she should have a C (Cytosine) Molecule. This single base change in the gene creates a STOP Codon (TGA) at the 235th amino acid position where it should create a Arginine Amino Acid (CGA) . Basically this creates a significantly shortened/malformed Jagged1 Protein. This protein is critical in the development/migration of vessels within the growing fetus. If we then think about Heart, Liver and Kidneys --- all structures that rely heavily on vessel formation/migration --- we can see how those 3 organs get his hard by Alagille Syndrome (Jag1 Mutations).

From my understanding this mutation is one of the more common 'de novo' - or new mutations, at this locations. 60 to 70% these mutations are not inherited from either parent. At some point both Sara and I will get tested to see if we are carriers of this mutation and passed it on to Olivia, or if she just got Unlucky.....

I hope I didn't bore anyone too much with my basic genetic review, but I find it amazing and fascinating what an intricate machine we all are lucky enough to inhabit. Thank your lucky stars (or the deity of your choice) daily that your body was assembled correctly, the tiniest change at conception (or before) can have immeasurable consequences, and it's all due to the magic of DNA & Genes.

She's a Champ

We just got back to see Olivia. She made it through without any problems. Her BP have actually come up nicely so they will probably wean her off her Epi & Dopamine over the next 12 hours. Her Blood Gas Labs look good.

When Sara and I came back and said 'Hi Olivia' she slightly raised her eyebrows and we could see a slit of eye under those tiny little lids. It's amazing how she responds to our voice even while still sedated. I just can't imagine not having someone she knows by her side while she is in the Hospital. There seem to be too many kids here that don't have family around them all the time. It can't be healthy for them to be 'abandoned' like that. I understand that life must go on (work, other kids, etc) but they know if you are there or not, even at this age.

We were also quickly reminded how fragile these little ones are. The bed next to Olivia is now empty...... if our worst thoughts are confirmed our thoughts go out to her family.... so sad.

Doing well but still waiting

I just talked to Olivia's nurse, things are going great. Her pressures dipped slightly (expected) when her chest was closed, but they have since come back into the 50's w/o adding any medications. They have also turned her ventilator down quite a bit, hoping to wean her in the next 24 hours.

They haven't opened the ward back up yet, making us worry for the baby next to Olivia, her procedure should have finished 1 hour ago.....

The nurse was nice enough to let us know the delay didn't have anything to do with Olivia :)

We'll update when we're back with the baby.

Closing Her Chest

Moring rounds went well. The whole team was happy with her progress, so they decided they will try to close her chest this morning. 

This procedure is done right on the ward, it's set up to be a sterile surgery room if necessary. The closing shouldn't take more than 1 hour.  We'll probably have to wait 2+ hrs to see her again, because they were going to close another chest right after Olivia's closure.

Olivia's Kidney values are also pretty good, her Creat has crept up to 1.0 from 0.9 yesterday (normal = 0.5). The Renal team suspects she will creep up a little more before she comes down, because of her arrest episodoe the other night. Overall they seemed comfortable with her kidney function and think things should recover to baseline as long as no new insults occur.

Ahhh Sleep

Sara and I finally got a good 6 straight hours of sleep (in a bed) last night. That's the first time in over 10 days. Feels like I could sleep another 12 easily.

Olivia did very well overnight. No changes. Her pressures remain unchanged from last night. She's down to the lowest doses of BP meds they use before stopping. They probably won't change anything more until they close her chest. 

She's been urinaring very well overnight. So well in fact, that she's back to her 'dry weight' - weight before surgery & fluids. This means she could probably have her chest closed earlier than they first thought. Whether they decide to do so today, we'll see what the surgeons think during rounds this morning. Either way they are going to have to back off her diuretics (water pills) or they will make her too dry and have blood pressure issues that way.  ...what a fine line ...

Here's to a Quiet Night

Well so far so good. Continuing to wean drugs down. She's now been off the Vasopressin for 30 minutes and has recovered nicely. Every change in meds has been met with her little body picking up the slack. 

No other changes planned for the night. 

Just letting her body sleep and heal.

Good night my sweet, see you tomorrow.

"Status quo, you know, that is Latin for the mess we're in." - Ronald Reagan

It's been a good day. mostly uneventful.  Slow weaning and tweaking of medications has left her with pressuresa of 89/38 with MAP 56.  Down some from earlier, but she's been reduced on two blood pressure meds and increased on a Vasodilator to improve her peripheral circulation. 

Rythms are good, Urine output is increasing, Chest drainage is normal. Heart no need for pacing machine. Hopefully this contibues through the night. As long as things continue to look stable we'll try to get a longer night's sleep than yesterday.

The plan is to try and close her chest Monday, as long as she continues to urinate well and get rid of her excess fluid.

Earlier Olivia woke up a little while Sara was with her, opened her eyes and was looking around. Our little Peanut Diva is still there, underneath/behind all the tubes and wires.

Keep up the good work Olivia, slow and steady wins the prize.

It's All About Blood Pressure

Well Olivia didn't have any more complete crashes after her episode last night. Watching the nurse fill out a Cardiac Arrest Record for her was just bizzare. The good thing was that she never fully arrested, it was just that her BP and HR kept dropping to the point chest compressions were necessary to keep things circulating well. 

Through the night she had a couple more dips in BP resulting in two more IV medication drips and a Rythm Pacing Machine.  Since they started the Vasopressin at 4AM she's been extremely stable around 95/40 with a MAP of 60. The goal for Olivia is to keep her MAP (Mean Arterial Pressure above 45). 

The last 6 hours have been very good. They have turned down the Heart Pacemaker so she is actually keeping her own rythm. They have also started to wean her off the Vasopressin drip. So far she's keeping things up on her own. 

While she's still on the ventilator, she's now taking a breath on her own every minute or two. 

The next big task of the day for the little Peanut is to get her kidney function back to where it was before surgery. Her Creatinine was 0.5 before surgery, now it has jumped to 0.9.  They've given her a couple of diuretics to try and get some better kidney output. Most likely the Creat will continue to go up for another 24 hours before it levels out, and then hopefully goes down.

Olivia earned a new nickname from the staff last night : DIVA.  She didn't want to share any of the attention with any of the other patients, it was all about her last night. Oh Boy....

Hopefully it will be an uneventful day, slowly weaning IV drips (12 different ones at last count) and getting her to pee. The Dr's are thinking of closing her chest Sunday or Monday depending on how much fluid they get out of her system.

More later as things progress.

In lieu of a picture of her all wired up, here's a pic from 1 week ago. Man... I just want to be able to cuddle her again.

Sleepless Nights

I have a feeling it's going to be along couple of days.  Overall she's been doing pretty well, she seems quite sensitive to any changes right now. Small changes in meds or fluids send her blood pressures moving from one extreme to the other.

She just had a pretty bad pressure crash after stopping one drip. They ended up asking us to leave while they worked on her. Not a fun 30 minutes. They had to bolus significant fluids and start an epinephrine drip. They also hooked her up to a pacing machine to make sure her Heart Rate doesn't drop below 100. The doctor did say they had to do some chest compressions to keep her pressures up while the meds kicked in. She stablized fairly well after that.

We're back in with her now and gave her a stern talking to about pulling anymore crap like that. She's stable again, but not giving us any rest.

Keep the positive thoughts coming our way.  While the surgery was a HUGE step, the next 24-48 hours are even more critical for her boby to start to adjust to the new blood flow and all the trauma the surgery induced.

How Surreal Life Can Be

We've been by Olivia's side for the last couple hours and she's a real trooper.  Her pressures are stable (as much as they can be at this point), her Oxygen Saturations are good, ECG is stable. She's actually on quite a low dose of heart meds to help keep her blood pressure up, all the Dr's and Nurses seem happy with her condition given what she just went through. Whenever an alarm sounds on her monitors, there someone there right away to analyze and react if necessary, very impressive.

Here's this 5lb infant surrounded by 100+lbs of equipment. IV pumps, Breathing Machine, Chest Tubes, & Drains.  Her chest covered with a clear yellow plastic drape, her little heart beating just below the surface.... 

Never in a million years would Sara and I imagined ourselves in this position, it was just last Thursday afternoon when we were heading in to a 'routine' cardiac ultrasound to evaluate a mild childhood murmur.  Huh.... that seems ages ago. Everything has stopped for us while the world around us continues undaunted. We hadn't even stepped outside for close to a week until we went home for a couple of hours yesterday evening.

We'd again like to thank everyone for beimg so supportive and helping out with everything. We'd also like to thank any of our clients following this Blog for their understanding, hopefully whithin the next week the clinic schedule should return to some semblance of normal.

Thank You.  

She's Done

Olivia did well. 

Recovering in ICU.

Will hopefully get to see her within the hour.

So it sounds like the last hour of surgery was just watching for bleeding, placing new stitches and watching. They weren't able to close her chest due to the swelling, but it sounds like that is not unusual. They plan on closing the chest in a couple of days.

Just waiting

Still in Surgery, watching to make sure there is no bleeding at site of the shunt.

One spot was oozing, but they seem to think they have it controlled. 

Still doing well.

Off Bypass

Surgery still going well.

Off Bypass.

Will be closing shortly.

Hope to see her in a couple of hours.

1/2 Way There

1/2 way done. 

Shunt is in R side. Now attaching to Pulmonary Vessels. 

Another 1/2 hour or so of stitching, then she comes off bypass.

hopefully done by 12 12:15

Then the real work of recovery begins

Everything going well

Just got the first update. 

Anesthesia induction went well, just placed on bypass, everything going well.

And the waiting begins

7:30am  we handed over our precious little bundle to the care of the best team we could hope for. Please keep Olivia, The Surgery Team, & Us in your thought this morning.

Our little fighter, puttin' up her dukes:

1st Surgery of the Day

Olivia is scheduled to have surgery first thing in the morning.  Anesthesia will come get her around 7:30am EST.  If all goes well she should be back in ICU by early afternoon. 

I'll post whenever I get the chance, might not be until after the surgery.

Thank you so much for all your comments, I haven't had much time to answer many of the messages, but be assured we do read them and they have brought comfort to our hearts and tears to our eyes.

We love you all.  Pray for little Olivia tonight!

What's one more conern?

So we had a visit from the Pediatric Kidney team yesterday. They were called in because it was noticed on ultrasound that one of Olivia's Kidneys is Cystic and Hypoplastic (small).  They are not sure what the implications of this are finding because overall her kidney function seems good/normal. The Doctors did state that functioning on one kidney is more common than forst thought, often it is an incdental fnding while working up other problems. 

They of course want to monitor this, especially since one of the complications of being on a bypass machine is to have an acute kidney reaction shortly after surgery. The best newsconcerning the acute kidney problem is most often a short term treatable/recoverable issue. The Cardiologists & Kidney specialists will monitor her closely in the Cardiac ICU after surgery for any kidney complications.

More later after we meet with the Cardiac Surgeon. 

Olivia's Specific Anatomy

Thanks to Dr. Thorsson for the freehand drawing of Olivia's Anatomy.

The left picture shows Olivia's Collection of defects. Specifically the Atretic/Non-Existent Main Pulmonary Artery. This defect was caused by a failure of the Aorta to migrate to the correct position over the Left Vebtricle. The 'middle' migration of the Aorta basically squeezed out the atachment site for the Pulmonary Artery.  Amazing how a relatively small change in developmental movement can have huge consequences for life

The right picture shows the the planned shunt going from her right ventricle to the junction of her Pulmonary Arteries. This should increase the blood flow through both sides of the Pulmonary  Vasculature, hopefuuly stimulating her undersized vessels to grow.

Surgery Date Set

Olivia does have a Surgery Slot set for Friday 3/13/09.

We do not have a time yet, we'll post as soon as we know.

We'll also have some other tidbits to pass on & talk about Tetralogy of Fallot / Pulmonary Atresia Anatomy a bit.