Surgery Date

There has been a lot of back and forth this week regarding Lincoln's heart surgery date. The surgeon is booked, but Lincoln's liver is getting worse so we can't wait. If liver function gets too bad then the surgery can't happen. But the surgery has to happen before Lincoln can be listed for a liver transplant.

After a lot of conversations and meetings between Lincoln's doctors and the surgeon we got a surgery date of this Monday. We get admitted early Sunday afternoon. Lincoln will get an exam and blood work Sunday and surgery will be first thing Monday morning. The only minor hiccup is that Lincoln just got his 6 month vaccines on Thursday because he's on an accelerated vaccine schedule to prepare him for transplant. The heart surgical team doesn't like kids to have been vaccinated within the 2 weeks before surgery because the heart/lung bypass machine can wreck havoc on the immune system. The one vaccine in particular they're concerned with is for rotovirus because that vaccine is a live virus.  They think it'll be ok, they're more concerned with things like the MMR and flu vaccine before surgery, but they're triple checking with the infectious diseases team to be sure it's ok.

The surgery itself takes 4-5 hours and is open heart. They go in through the aorta to get to the membrane below his aortic valve. They'll also perform a myectomy (I think that's what it's called, I didn't write it down), which involves removing some heart tissue to change the shape a little. This will change the way the blood flows and will lessen the pressure at the spot the membrane grew, with the hope that with less pressure the membrane will be less likely to grow back. I apologize if anyone reading this knows more about the heart than I do, I'm sure I oversimplified how the myectomy works, but I think that's the basic idea. The heart is really complicated to understand!

We and the surgeon are confident and hopeful for this surgery, but in the spirit of full disclosure I will say that there are risks. The surgeon has performed plenty of surgeries on subaortic membranes but they are usually on bigger kids (5-7 years old is the more common time for a subaortic membrane to become an issue). Since Lincoln is younger his heart is obviously smaller, and his aorta runs small. Don't get too nervous, the surgeon has performed the procedure successfully on kids as small as Lincoln. But he has not performed the surgery on someone as yellow as Lincoln. The main risk we're running is how Lincoln's liver is going to react to all this. But it's a risk John and I feel we have to take.

Fingers crossed that surgery can happen on Monday. We'll update as we can.

We're tired

Not sure how to describe this past week. It was just...a lot.

The cardiologist called us Tuesday to give an update on what the surgical team thought of Lincoln. They all agree that the surgery needs to happen soon. Unfortunately, the surgeon's schedule is booked for the next 1.5 months so we're still waiting for a surgery date. Everyone agrees that 1.5 months is too long to wait so the cardiologist is talking to the surgeon daily to try and figure out how to fit Lincoln in to the schedule. They want him in within the next week or so.

We did ask if they'd ever consider fixing the kidney at the same time as the heart, that answer was no. Lincoln will have to be on heart/lung bypass for the surgery, which can create havoc on other organs, so they don't want to cause any other shocks to the system.

The surgical team also wanted more specific details about Lincoln's heart before going in to surgery. They wanted to perform a cardiac cath procedure. This involves putting a catheter in through the artery in Lincoln's groin and winding it up to the heart, and it happened on Wednesday. They measured the different pressures in different parts of the heart. I'm going to try to describe what it was they were checking, but I'm no expert so I'll just try to explain as best I can and the way I understand it.

The aorta is a vessel that takes blood into and out of the left ventricle of the heart (the difference between the left and right ventricle isn't important for this explanation). The aortic valve is part of the aorta and is at the spot there the aorta ends and the left ventricle begins - kind of like the door between 2 rooms. It opens and closes so blood leaves and enters the left ventricle when its supposed to. The issue with Lincoln's heart is that there is a membrane beneath the aortic valve. This membrane partially blocks the blood's path. Just like when you put your thumb over a hose and the pressure increases, the blood starts pushing through with more pressure. This is what they found with the cardiac cath. The pressure in the aorta is normal, the pressure at the aortic valve is higher, and the pressure within the left ventricle is higher still. This is bad for the heart so they need to remove that subaortic membrane.



There are also some abnormalities with the other side of Lincoln's heart, the pulmonary side. This didn't used to be the case so things are changing over there, but no intervention or real problems at this point.

They also checked the pressure going to his lungs and that was just fine.

Lincoln had to stay over night for observation after the procedure but did great and seems to be back to himself. Unfortunately he's running a slight fever and has a little congestion, my guess is it's something he picked up in the hospital, but is otherwise doing fine. The heart surgery can't happen if he has a fever so hopefully he gets better soon!

They did more blood work and his direct bilirubin was down to 18. But his INR, a measure of blood clotting, was higher (we wanted lower) even after his shot of vitamin K last week. The gastroenterologist said it was weird for one to improve and the other to get worse, and he would have rather seen the bilirubin stay where it was and the INR to improve. His liver isn't happy and it's just not acting the way they'd expect.

Lincoln's diagnosis is still a mystery. Some of his characteristics, particularly his liver, fit with Alagille syndrome. But his other characteristics only kind of fit, and the doctors want something more concrete. This is because his liver function has deteriorated enough that after the heart surgery they want him evaluated for a liver transplant. A panel of 9 physicians will evaluate him to see if they feel he's a good candidate. To be a good candidate he has to be as healthy as possible apart from the liver (the reason for completing the heart surgery first) and the majority of the panel has to be convinced that the new liver would fix the problem. They can't justify giving someone a new liver if it's possible the problem isn't the liver itself and the new liver would also fail. A confirmed Alagille diagnosis would go a long way in convincing them a new liver would fix the problem, so that's what we're hoping for. 

To try to get more clues leading to a diagnosis Lincoln had a couple extra tests this week.

He saw the ophthalmologist. They were looking for something called posterior embryotoxin. This is a thin line seen at the edge of the iris. It doesn't affect vision in any way, but is seen in 90% of people with Alagille syndrome and only 8-15% of the general population. Lincoln doesn't have it.

He had arm and leg x-rays. There are other disorders that cause bone/joint abnormalities so we were ruling those out. X-rays were normal.

He'll have a head ultrasound this week. I didn't ask what they were looking for here. I'll update once we know more.

To summarize, here's what we know so far:

The liver - Bile duct shortage, definitely consistent with Alagille.

The heart - Subaortic membrane is not common with Alagille syndrome. Issues with the pulmonary side of the heart are.

The kidney - Doesn't quite fit. Alagille related kidney issues are usually functional, where Lincoln's blockage is structural.

Facial features - Lincoln has a little bit of the prominent forehead common with Alagille's, but not the triangle shaped face or pointed chin

The eyes - Not consistent with Alagille

So that was our week. We're tired. A friend sent us dinner on Thursday night and I almost cried in relief. After spending the night at Children's on Wednesday I don't think we even had the energy to order pizza on Thursday. I really don't know what we'd do without all the love from our family and friends. 

And thank you for all of the positive thoughts and prayers! Staying positive is the best thing we can do right now. Don't get me wrong, we're not saints over here. We have our moments when we scream and cry and are bitter and say this isn't fair and we can't do it any more. But we can't stay in that place - it doesn't get us anywhere. It's good for letting out frustration, anger and fear, but after that's done positive thoughts keep us moving in the direction of a solution.

Progression

It's been a few weeks since I've given an update, so here's how the past few weeks have been going:

-More bloodwork, bilirubin up to 15 and clotting factor looking worse
-Increase Ursodiol dosage (liver medication), increase ADEKs dosage (vitamins) and start on an additional vitamin K supplement
-Lincoln goes on a hunger strike, not sure if it's related to the increase in medication dosage, but we suspect it is
-Kidney surgery moved up to Feb. 17
-Another liver ultrasound, blood flow to the liver is good
-Somehow Lincoln's growth is still on track, he is so amazing!

That gets us up to this past week.  On Friday we had an echocardiogram, EKG and consultation with the cardiologist. They had originally wanted to sedate Lincoln for the tests, which we were against, so they agreed to let us try it without sedation. And it worked, phew!  He wasn't exactly cooperative the entire time, but he wasn't terrible.

The original plan had been for me to head back to work after the echo and have John and the cardiologist call me so I could hear the update.  I was getting ready to head out when the cardiology fellow came in, told us they were looking at Lincoln's echo, and asked me to stay.  Never a good sign.

Lincoln has a piece of tissue growing beneath his aortic valve. They call it a subaortic membrane. We knew it was there and were hoping for no progression. Unfortunately, it progessed from mild/moderate to severe over the past two months. The doctor is concerned at the quick progression and wants to schedule surgery to remove the membrane, plus remove a little extra in hopes of getting rid of any faulty cells that like to grow there. While they're doing that, they'd also look at his valves and correct or replace any that have been damaged. The heart team has a weekly meeting on Tuesdays to discuss all the cases and we'll know for sure after that meeting, but the cardiologist told us to expect the kidney surgery to be postponed and heart surgery scheduled in the next month.

While we were at the hospital we also stopped into the GI clinic to have Lincoln's doctor take a look at his belly. The night before it had looked a little bigger than it normally does. The doctor told us to head down to get bloodwork and come back in a few hours for another liver ultrasound (Lincoln can't eat for four hours before the ultrasound so we had to wait). The bloodwork showed Lincoln's direct bilirubin up to 26 and that his clotting had worsened a little. So he got a shot of vitamin K to help with the clotting, still nothing we can do about the worsening liver function.

The liver ultrasound also showed that there is decreased blood flow to the liver. This isn't good, but there is a bright side. The liver folks think it's possible that the heart is putting stress on the liver and that could be the reason for the sudden worsening of liver function. It makes sense - both the heart and liver declined quickly over the past couple of months. It stands to reason that the two are related. The hope is that once the heart is corrected that stress will be taken off the liver and we'll be back to something reasonable. It wouldn't fix the liver, Lincoln still doesn't have enough bile ducts, but it could help.

John, Lincoln and myself are staying strong and positive. It's not easy, and we have our moments,  but being sad and feeling sorry for ourselves doesn't get us anywhere. We ask that you continue to send Lincoln your prayers and/or good thoughts. We also ask that when you think of Lincoln please keep a positive outlook on your end as well. Feeling sad for Lincoln doesn't help him, but positive thoughts and confidence in him and his team of doctors does.

Those stupid three steps forward

We had two big appointments this week – one with urology and one with gastroenterology (the liver doctor).  First was urology…

We already knew that the renal scan showed 83% of the work being done by Lincoln’s right kidney and that Lincoln was likely to need surgery.  The urologist confirmed.  The left kidney is doing 17% of the work and 10% is the urologist’s cutoff for function that is too low to salvage the kidney.  But at 17% he thinks he can save it.

The urologist believes Lincoln has a UPJ (ureter-pelvis junction) obstruction.  Here’s a little science lesson for you…The UPJ is the spot where the ureter meets up with the kidney (the pelvis is part of the kidney, not the pelvis we’d usually think of).  When the ureter is formed it starts at the bladder and grows up to the kidney.  While it’s growing it’s not a hollow tube yet – it’s solid.  It becomes hollow later.  A UPJ obstruction happens when the hollowing out process for some reason isn’t complete.  The urologist fixes this by removing the part of the ureter that isn’t completely hollow and reconnecting it to the kidney.  The surgery has a very high success rate and according to the urologist is relatively common in his world.  The hope is for Lincoln’s left kidney to return to full function.  Lincoln goes in for surgery on February 27^th then will be in the hospital for monitoring afterwards for 2-3 days.  We’re not exactly looking forward to the surgery, but are ready for it to be done and over with so we can move on.

Then came the gastro appointment…you know what they say about 3 steps forward and what they lead to…

Every time we have a liver appointment Lincoln gets blood work beforehand.  This past week the blood work showed his liver function levels at the worst they’ve been to date.  You might remember that we were hoping for direct bilirubin levels around 4 or so.  His last test showed direct bilirubin a little above 5.  The highest he’s ever had was around 8.  This time we were above 11.  His ALT and AST (measures of liver inflammation) had doubled since last month.  We also had our first abnormal INR reading, which is a measure of blood clotting and another test of liver function.  Previously Lincoln’s liver hadn’t shown any signs of enlargement or hardening (cirrhosis) when the doctors felt it, but now it does.

So what now?  We’re back to blood work every two weeks instead of once a month.  We’ve upped Lincoln’s vitamins and liver medicine.  The doctors will keep an extra eye on the blood clotting factor, especially given his upcoming surgery.  If it gets worse they can give him a shot of vitamin K, since vitamin K is one of the vitamins Lincoln has a hard time absorbing and also is a big factor in blood clotting.  The INR reading wasn’t bad enough for the liver doctor to put a stop to the kidney surgery.  He'd like that kidney to be healthy sooner rather than later.

Now that we have signs of liver hardening and elevated bilirubin we also had to have a discussion with the doctor about new things to keep an eye out for.  He told us when to call him and when to get to the ER.  He explained that he wants the kidney fixed before the liver gets too bad in case Lincoln ends up needing a liver transplant.  It’s better to be as healthy as possible in all other aspects when going into a transplant.  Yep, fun conversation.

Going through that appointment was an odd experience.  On one hand, we’re a little bit used to medical issues and appointments so we knew how to react.  On the other hand, Lincoln was doing so well that this felt like it came out of the blue.  I knew he was looking more yellow and had seemed like he wasn’t feeling great for a few days before the blood work, so I wasn’t expecting his bilirubin to have dropped.  But I wasn’t expecting 11.  That caught me off guard.  I felt like our three steps forward was followed by four steps back. 

But Lincoln seems like he’s feeling better today, he's still eating great and has been smiling and laughing, so all we can do for now is keep hoping for the best and keep having fun with him.  Through everything he just keeps being so much fun, we couldn’t have asked for a better baby!  Hopefully the increased liver medicine dosage helps things and we can get back to our baseline levels soon.  Any good thoughts or prayers you want to send our way are appreciated!

We survived the holidays...and a renal scan!

Lincoln had his first Christmas, and it was a blast!  We didn't do any traveling on Christmas day, this was actually the first Christmas day spent in this house since I bought it.  Lincoln of course didn't really know what was going on, but he did like the lights on the Christmas tree and he liked the jumper/bouncy thing we got him.  He hasn't gotten the hang of actually jumping or bouncing yet but he likes just hanging out in it.
Lincoln got a ton of toys and cute clothes, he was spoiled!  He's still getting the hang of a few of them, but there were some instant hits with a little elephant that makes a crinkly noise and a glow worm.  It's so fun to watch him get excited to see his toys and start to figure out how to play with/try to eat them.

We did travel down to John's parents' house the weekend before Christmas, and I'm pleased to say that Lincoln handled both the 4 hour drive each way and staying in an unfamiliar house really well.  We needed to pay a little extra attention to eating because of course he was distracted with all the fun people to play with.  Nothing major though, and he met his intake goal both days we were gone.

Since Christmas we've had another weight check with the pediatrician, and Lincoln is still gaining weight since being off the tube!  He's small for his age, around the 7th percentile for weight, but he's consistently in the 7th percentile.  That means he's gaining weight at the same rate as a normal baby, and that's what we want.  His height was a tiny bit of a concern, his percentile for height dropped a little.  He can be short, that's not a huge deal, he just needs to be consistently the same level of short to show that he's growing properly.  Alagille's kids do tend to be small, but it's not because of the faulty gene, it's because they have a hard time absorbing fat and vitamins so they have a hard time getting good nutrition.  Nothing to get worked up about at this point, just something to remind us to stay diligent. 

We also had a renal scan to check on the hydronephrosis of Lincoln's left kidney.  The test took about an hour and a half from start to finish and Lincoln was a champ.  He napped for part of it and just hung out while John showed him different toys on his phone for the rest. 
To do the test they hooked him up to an IV so they could administer what they call nuclear medicine.  Basically just medicine that can be followed through his body by the scanning machine.  They monitor how long it takes for the medicine to go into his kidneys and then how long it takes to leave the kidneys.  We meet with the Urologist on the 14th to officially go over the results and discuss next steps, but we know the test showed that 83% of the work is being done by the right kidney.  This means there is a blockage in the left kidney and the last time we met with the Urologist he said if there is a blockage it would have to be surgically corrected.  He also told us the procedure is relatively common in the urology world and has a great success rate, so that's reassuring.  We're not happy about the results, but if surgery is what has to be done to get this little guy a small step towards better then that's what we'll do.

In other news, MBA classes for both John and I start on the 13th.  We'll both have class two nights a week and are pretty nervous about how this is going to go.  Luckily Lincoln's Aunt Maria and Uncle Brian are going to babysit one night a week so that will help a ton.  Having a babysitter means we'll both be able to take a class on the same night instead of having to alternate class nights.  This means we'll be able to see each other 4 evenings a week out of 7 instead of only 3.  Honestly, I seriously considered taking another semester off.  However, that would mean my loans would come due before I had my degree.  I can't stomach that thought, especially since I only have 4 classes to go until I graduate.  So the Spurriers are just going to stay energetic and positive and keep on keeping on!  Wish us luck!

The geneticist

Well, we had our meeting with a geneticist, per a recommendation from the cardiologist.  Our meeting was at 12:30pm on Friday.  The geneticist entered the room around 4:45pm.  Yep, over 4 hours late.  In hindsight, I don't know why we kept waiting.  I guess once you've packed up an infant and waited an hour, then two, you're kind of committed to the appointment. 

I've mentioned before that the liver doctor ordered genetic tests that are still pending.  They've done 2 tests on Lincoln's Jag1 gene, the most common gene to be the issue for Alagille's, both of which have come back negative.  There is a Notch2 gene test pending.  If that's negative then there's one more Jag1 test still left to be done. 

So, back to the geneticist...she confirmed that she thinks it's Alagille's but we are going to wait to see how the genetic tests turn out.  Yea, NOT worth the 4 hour wait.  I'm not sure why the cardiologist recommended we see her now, knowing the liver doctor had genetic tests pending.  I'm not sure why we didn't point that out before making the appointment.  But it's done now, and there were some good points.  She did take a look at Lincoln's facial features since Alagille's kids tend to have certain facial characteristics in common. Prominent foreheads, pointy chins (so they have kind of a triangular face), long noses.  And it was nice to have someone combine Lincoln's separate issues and take them all into consideration at once.  While the doctor's at Children's are great, they don't necessarily talk to each other and can have varying opinions.  The liver doctor thinks Lincoln's forehead looks like Alagille's, the cardiologist disagrees.  The urologist doesn't think the kidney issues are related at all.  The geneticist brought it all together.  She agrees with the liver doctor that Lincoln's forehead has some consistencies with Alagille's, mostly the indentations on the sides of his head.  She doesn't think he has any of the other features at this point, but he's still only 3 1/2 months old so that can obviously change.  She thinks the kidney issues are related to the heart and kidney.

John and I have mixed feelings about the fact that this is likely Alagille's.  We certainly don't want Lincoln to have a genetic disorder.  But the liver doctor told us recently that there is no other known cause of a liver duct shortage like Lincoln has.  His hope is Alagille's over something new we don't even know about.  My hope is that the liver resolves itself and it turns out it's not Alagille's so there are no genetic ramifications, but that's looking unrealistic.  So short of that I guess I should hope for an Alagille's confirmation as well. 

We're tube free!

We had an exciting liver appointment last Thursday!  We met with the nutritionist first, she was very nervous about us cutting a full 6 hours from Lincoln’s NG feeds.  She said that was a big cut, usually they go in 2 hour increments, but to continue with it because he was doing well.  Then the liver doctor came in, saw how Lincoln has been growing, and we told him how Lincoln wakes up hungry but eats less while on the feeds.  We've been tracking and charting everything Lincoln eats so we were also able to show them how Lincoln had been trending.  Then the doctor told us to try removing the NG completely!  We were beyond excited! 

This is sooner than we or the doctor thought the tube would be coming out, and I credit pure stubbornness on the part of me and John in getting things moving.  We’ve been fighting for, tracking and charting every half ounce, and will continue to do so.  Removing the tube doesn’t mean he’s better, but it does mean he gets to be a little more “normal”.  And that’s what we want for him.

So far Lincoln’s no-NG calorie intake has been going ok…not great, but not terrible.  He missed his goal by half an ounce on Friday, surpassed it by an ounce Saturday, and missed it by 1.5 ounces on Sunday.  If he can’t consistently keep up his volume the tube may make another appearance.  We need a good day for the next few days!

In terms of stats, his direct bilirubin was back to what John and I consider his “usual”.  He had been sick a few weeks ago and landing in the emergency room and at that point his direct bilirubin was above 5.  Thursday it was down to 4.6.  Not his lowest of 4.2, but at least improved.  His vitamin D had been too low and is now at the low end of normal, but within the normal range. His cholesterol had been well above normal and is now at the high end of normal, but also within the normal range.  So we were excited about that!  Alagille’s kids (and probably liver kids in general, I'm not sure) can get cholesterol buildup in their blood and it can lead to xanthomas – hard bumps in their skin caused by cholesterol deposits.  That’s no fun for anyone so we were happy we’re in the normal range for now.

We had a weigh in with the pediatrician today; this was his first weigh in since we started the weaning process 2 weeks ago.  11 pounds 10 ounces, which is up 6 ounces over 2 weeks.  With the NG he had been growing about a pound every two weeks so we’re a little nervous that his growth has slowed down since the weaning process began.  The pediatrician said it wasn’t ideal growth, but not terrible since normal infant growth rates start to level off in general by 3 months.  And Lincoln is 3 months today.

Hopefully he’ll even himself out and get the hang of eating all on his own quickly.  For now we are loving not having to schedule our evenings around getting the feeds set up, loving having a much less congested little baby, and loving how much more he’s started “talking” since we took the tube out.   He is all around a much happier little man!

Lincoln also had his echocardiogram and EKG last week.  The cardiologist saw some new things he didn’t love, but we’re not sure if things really changed or if they just didn’t show up a month ago since Lincoln was smaller and it can be hard to get a good picture.  No action at this point and still might not be a big deal, just another echo in two months to monitor things.  So for now we’re not going to worry about it.

We really can’t thank our friends and family enough for all their love and support through all this.  Sometimes things get hectic and we forget to respond to messages, but we hope you know that we see them and read them to Lincoln.  I’m sure I’ve said it a hundred times, but everyone’s kind words, thoughts and prayers really help us stay positive and as energetic as possible.

We aren’t going to get around to sending Christmas cards this year (heck, we haven’t even sent Lincoln’s birth announcements yet!), but hope everyone is having a happy and healthy holiday season!