Alphabet Soup

When we took Olivia to her new pediatrician last week , we came away greatly impressed. O's Cardiologist had recommended Trestlewood Pediatrics in Portage (Kalamazoo) for her routine care - Vaccines, Runny Nose, Etc - basically anything not Alagille related. When we walked in an talked to one of the receptionists, right away she asked if Olivia was still seeing Dr. Dahmer (Cardiologist). As it turns out, her daughter was born with a severe heart defect 6 years ago and has been under her care ever since. I just those few sentences she made us feel welcome and gave us a positive inspiration for the day.

We were shown to an exam room by a nurse who took Olivia's vital signs; 9lbs 8oz & 23 1/4 inches

long -- our little peanut is growing... slowly but steadily. The clinic was neat, clean, and fairly new. Good first impressions. When Dr. Van Es came in and introduced himself he said "Well I've read a lot about Olivia from all the specialists so it's nice to finally meet her in person." Dr. Van Es spent the better part of an 1 hour talking to us about Olivia's history and treatments so far. Asking about her milestones and telling us what to expect over the next months. When is the last time you got 1 hour face time with a physician? We were very happy.

He then did a very thorough exam -- which Olivia did take exception to -- finding nothing

remarkable outside of her known afflictions. Dr. Van Es made it a point to stress the importance of vigilance with 'The Diva', she walks a fine line health wise so any questions we have we should contact their office and they'll find an answer for us. He also made it an option to bring 'Her Majesty' in through the side door for her appointments, so she wouldn't have to wait in the main waiting room with any sick 'peasants.'.

Once the Dr. was gone it was time for the dreaded Vaccines.

Duh da daaaaaa ......

Olivia, having plenty of experience in the field of Pokeology, eyeballed the nurse as soon as she walked through the door. "The Look" is hard to describe, but it's very distinct. Olivia's facial expression doesn't really change, yet her eyes get slightly wider and steeled for the next event.A slight tensing of her body can be felt too. Her little Blue-Gray eyes observing every movement, rolling as far to the side of her head as possible as to not lose sight of her foe.

Olivia had only been given her HepB vaccine when she was born, all others had been postponed until now because of Olivia's Surgeries and hospitalizations. On this visit the Little Peanut (aka Little Turd), was subjected to an alphabet soup of vaccines: RV, DTaP, Hib, PCV, & IPV. This consisted of 1 oral and 3 jabs into her legs. I'm not exaggerating when I say jab, seriously it seemed like the nurse wound up to pitch a fastball with a needle & syringe. With

the little meat that is on O's thigh's, I was waiting for the needle to come out the other side and jab me in the leg.... Olivia's reaction I'm sure is identical to most infants/children's... there's a delay of 5 seconds or so before the stick registered in her brain, but the did she let loose a wail of pitiful proportions. Sara just commented again the other day that watching those vaccines was almost more difficult than holding her to get her blood drawn. Once the poking was over though, she quieted down quickly and slept most of the rest of the afternoon.

On our way home from this visit, it suddenly hit me that this was Olivia's FIRST wellness check-up. This Dr's visit had nothing to do Allagile, Tetralogy, or Kidneys!!!! Every visit up to this point had been to check something to do with her ailments. Only took us four months to get here, but hopefully before long I'll be writing more about these routine visits and normal baby milestones than her 'sick visits.'

Till the next time..... Olivia will be Chillin' in style.

Quest for the Golden Elixir.....

Sounds like a setting for an adventure novel or movie, eh?

Two intrepid and dedicated adventurers set out to capture a few precious drops of this liquor of life. Little did they know when they set out early yesterday morning what trials they would experience along the way. Armed with multiple little collection baggies they brave the heat and humidity of a typical Michigan Summer day. Quietly and patiently they set their trap.

Tick, Tock

Tick, Tock

Finally their quarry was sighted, a slight dribble, then a stream, yet somehow it managed to fully evade their specimen trap! Aaaargh, sticky tape failure and the prey ran off to the safety of a diaper pad... A chuckle or two was had about their equipment failure, but they quickly reset their specimen trap, not knowing when the next dribble of Liquid Gold would appear.

With carefully applied sticky tape & apparatus the two decided not to hover, because we all know "A watched pot never boils." A short time later to their surprise the Specimen Trap had been filled. To the adventurers dismay it was filled with a much larger quarry they weren't looking for, contaminating the desired Elixir beyond use. For the third time in as many hours, another specimen trap was carfully applied. Not too low, not too high, hopefully just right along the quarry's path.

Tick, Tock

{Theme to Jepoardy plays in the background}

Tick, Tock

Yet another equipment malfunction, allowing the Golden Elixir to escape capture. The intrepid adventurers made note to contact the trap manufacturer when they returned form the wilds and give them an earful about their product....

Over the next 14 hours, make shift and modified traps managed to catch everything but the needed liquid. A modified zip-lock baggie was used to cover the quarry's whole living area, but managed to catch only spit-up, projectiled from the other end of the hunting area. With each daylight fading fast and frustrations levels reaching a fever pitch, one final bid was made to slay this formidable opponent. With a careful and deliberate manner the Golden Elixir's retreat was cleaned, dried, and prepared. The final trap was applied, carefully the sticky tape sealed completely, allowing no escape.

With much jubilation, a short time later their quarry had been trapped. The rare specimen was quickly transferred into a transport container and rushed to the waiting scientists for evaluation. Fourteen hours after starting their 'simple task' of collecting a small specimen of Liquid Gold, the two adventurers collapsed into their bed at home, wondering what tomorrow would bring.

So who would have though the simple task of collecting a urine sample on little O, could have turned into such a fiasco. Moral of the story though is, stick with it and you'll get what you need in the end, even if it's 14 hours later....

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.

Meet the Liver Team

Tuesday's check-up in Ann Arbor went as smooth as can be expected. Sara and I have decided anytime Olivia doesn't end up hospitalized makes for a good visit. :) We met with pretty much the full complement of practitioners involved with Olivia's Liver care. This team consists of a Registered Nurse (Vicki), a Social Worker, a Clinical Psychologist, a Nutritionist, and of course Dr. Lopez. From what we gathered, Vicki seems to be the lynch pin to this team, coordinating and organizing everything.

Meeting with the Clinical Psychologist was interesting. He was interested in how we've been dealing emotionally with all of Olivia's problems. We had a good conversation about our hopes and fears concerning our Little Diva. Of course Sara and I have talked about these issues quite a bit, but it was good to

have a 'neutral'

party become part of the conversation and validate our feelings about our dearest Olivia. It sounds like we will meet with him every time we come for a Liver follow-up.

Dr Lopez popped in for a couple minutes, took a quick look at Olivia and was gone again. He did seem happy with her overall progress, since she'd put on just over 1lb since her last visit 1 month ago and her blood values have been stable.

Kila, the clinical nutritionist, came in after Dr. Lopez and spent a good 15 to 20 minutes talking to us about Olivia and her weight progress. It was decided that Olivia was still at the bottom end of her growth curve - -not surprising due to the combination of Heart and Liver problems -- but that they would like to see her move up

some percentiles by her next visit. We will be starting Olivia on a higher energy formula -- 30KCal vs the 26KCal she's eating now. This will hopefully allow Olivia to put on weight faster taking in the same volume of food she has been eating.

Before we left the hospital, Olivia had to leave a blood sample for a full work-up. This blood work showed that her liver is doing 'well,' with all her liver values improving slightly across the board. The only concern at this point is that her Potassium (K) continues to be elevated. The increased BiCarbonate hasn't reduced the Potassium as much as we'd hoped. The new plan of attack now involves changing her formula to a lower mineral content formula, hopefully she will take to this food quickly w/o much difficulty.

As I mentioned earlier, overall the visit went well, at times though we felt as though not everyone was on the same page. The extent and rarity of Olivia's medical condition(s) are most likely the cause of some of the confusion/contradictions we ran into talking to the Liver team. For example the nutritionist was initially under the impression that Olivia's heart had been fully repaired, when we explained this was not the case, she had to change her assessment... Hopefully

as they all become more familiar with Olivia during her subsequent visits, everyone will be up to speed and we'll have less confusion about what's

been done or still needs to be done.

One final picture of Olivia with her new best friend: Charly -- picked up at the Chelsea Michigan Teddy Bear Factory on the way home from the Hospital.

On the Road Again... Again.... and Again.....

This evening we leave for Ann Arbor for a follow-up Liver evaluation Tuesday. Luckily this is a scheduled exam. We're just heading out tonight and spending the night in Ann Arbor, to make tomorrow morning a little easier on everyone.

When we first set up this appointment, we were quite surprised to find out that it would be with the Pediatric Liver Transplant Clinic. Needless to say when we panicked a bit and called them right back. It turned out that this was just the best way to get an appointment with Dr. Lopez, it didn't mean that she was being evaluated as a transplant patient. **WHEW** The packet we received from the clinic showed that Olivia will have a full day tomorrow.

The Bigger Little Peanut will start off the morning with a fun visit to the Phlebotomist to donate more of her blood for testing. This should set the tone really well for the rest of the day.....hah. Then she'll get to meet with Dr. Lopez for her monthly liver check-up. Hopefully the news will be good again, maybe some adjustment to meds because she is growing, but otherwise we are planning for an uneventful visit. The pending Alagille genetic tests might be back by now also, so that could make the day even more interesting.

We are also scheduled to meet with a nutritionist tomorrow, which will be good and give us an idea about Olivia's feeding schedule -- i.e. how long does she stay on formula, when do we start adding solids, what solids & restriction will her condition place on her. From what we have read, heard, been told, nutrition will be critical to managing her Alagille Liver. Who knows this might even cause us to eat a healthier diet....

Wish us luck, the Little O deserves a string of good news.

A Nice Sunday Stroll

Sara and I took Olivia to The Kellogg Forest for a nice stroll today. The weather was perfect, Low 80's sunny, slight breeze. We haven't taken Olivia many places just due to her condition, but mainly the fact that she has yet to have a full course of vaccines has made us reluctant to expose her to many things.

We've had a really good couple of weeks since our last Doctor's visit. Olivia has been eating well, feeling well, happy, smiling, only throwing a wobbly (tantrum) every once in a while :). She's had a couple of blood tests over the last 2 weeks, checking various kidney values. Overall the Kidney team is happy with her bloodwork, but would prefer to see her blood slightly less acidic. They have increased her Sodium Bicarbonate (again) to help fight this acidosis and to help keep her Potassium from creeping up too high, which is still sitting slightly higher than 'normal.'

Our walk was around the main loop, which is about 2.5mi lasted about 1 hour. Kellogg Forest is a Michigan State University Forestry Research facility which has many hiking/biking/walking trails. The gravel track is well traveled and goes through a number of different wooded sections, all with signs explaing their purpose. It is a very relaxing atmosphere, which quickly put little O to sleep. She didn't sleep the whole way, but was quite attentive to her surroundings most of the time.

We did run across a couple fun pieces of wildlife while out and about. Sara noticed a Box Turtle snacking on some grass and had of course had to stop for a quick Photo. The turtle became a little camera shy and quickly withdrew into its shell. While moving the turtle off the main path, a beautiful Indigo Bunting landed in a tree right above us. It didn't want to hang out with us and

flew off before we could snap a picture of it. For those that haven't been lucky enough to see one of these birds, they are spectacular.

Their feathers have and irridescent indigo sheen, that glimmers in the sun. Very unforgettable. Here's a picture I pulled off the internet showing the wonderful plumage of this bird.

A very nice Sunday with the family!

Happiness is....

Spending time with Grandma. . .

Just Pictures

Strapping in for a stroll around the yard

Trying on Grandma's Glasses

Finally Strong enough to sit upright in this bouncy chair

So many new things to see

Lounging with Maggie

Where's Ben's drool spot?