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.