One of a Kind

Jellybean arrived on October 29 around 11:00 p.m.  He was 8 lbs even and 21 inches.  He had a few issues and was transferred to Children's Hospital that night.  After performing a four-hour echo on him and all of the cardiologists conferring with each other, they found that they were still confused by what they saw.  They sent him for a cardiac catheterization, which provided a few more answers, but they still needed more information.  After a cardiac MRI, they had exhausted all methods of looking at his heart structure and finally had enough to make a diagnosis and surgical plan.

What follows is going to be fairly technical and my best description/regurgitation of what we have been told.  The short version boils down to this:  Jellybean's heart structure is one of a kind.  The reason the doctors had such a hard time coming up with a diagnosis--either from the fetal echo or the recent testing--is because he doesn't have just one issue.  Instead, he has roughly three separate issues, none of them standard, which then combined to create a very complex and problematic heart.  His surgery today is not a complete fix and, until medicine progresses to a point that stents can grow, he will need additional open-heart surgeries throughout his entire life.  This information has been overwhelming, to say the least.  What normal approximation of life we have created to cope with Lil' Bit's medical issues will likely disappear as we learn to adjust to Jellybean's uncertain future.  And yet, we feel blessed to have Jellybean, for however long we get to have him.  We will do our best to enjoy every minute we have with him.  Other than that, all we can do is make sure we get Jellybean the best care we can and the rest is out of our hands.  A very hard lesson for this control freak, to be sure, but I'm working on it.

Without further delay, here's as much technical information as we have:

After our last fetal echo, the diagnosis was likely hypoplastic left heart but possible truncus arteriosus.  The official diagnosis is:  truncus arteriosus with discontinuous pulmonary arteries and mild to moderate hypooplasia of the left ventricle.  In other words, some of both, plus more.

Truncus arteriosus occurs when the truncal vessel fails to split into both the aorta and pulmonary artery during fetal development.  Truncus always appears with a VSD which allows the blood to mix between the two ventricles.  As a result, there is a single great vessel and both the body and the lungs receive mixed (i.e. both oxygenated and unoxygenated) blood.  Because the vessel was supposed to become two separate structures, the valve is usually problematic being stiff (stenosis), leaky (insufficient), or both.  Jellybean's valve is somewhat leaky, but generally good.  It will likely be the least of his issues.

Usually, this condition is repaired by closing the VSD in such a way as to isolate the truncus into the left ventricle and a new pulmonary artery is created and attached to the right ventricle.  The first shunt usually lasts 1-3 years before it needs to be replaced because the body has outgrown it.  Shunts are then replaced through open-heart surgery roughly 3-5 years later, again 5-10 years after that, and by adulthood, roughly every 10-15 years when they wear out.  This is called a "complete" repair.  

This is not an option for Jellybean, however, because his left ventricle is clinically smaller.  Thus, although he does not have a classic hypoplastic left heart, there is some question whether it is capable of pumping sufficiently well to get the oxygenated blood out to the body.  Instead, they will do a partial repair, which involves placing a shunt (a 4mm diameter goretex tube) between the pulmonary arteries and the subclavian or carteroid artery.  By doing only a partial repair, we give Jellybean time to grow to see if the left ventricle continues to increase in size to the point where it looks capable of functioning in a 2-ventricle system.  If so, subsequent surgery would complete the truncus repair.  If not, subsequent surgery would convert his heart into a univentricular system the way they would with a classic hypoplastic left heart condition.

The final complicating factor is the discontinuous pulmonary arteries.  Usually, truncus presents in a variety of types which are classified by the placement of where the pulmonary arteries attach to the truncus vessel.  Jellybean's left pulmonary artery comes off the truncus on one side, but his right pulmonary artery is connected to a ductus arteriosus--a fetal structure that usually disappears after birth.  This type of truncus is incredibly rare and, except for a single case from the 1970s, generally involves the left pulmonary artery coming off a ductus, not the right.  

Jellybean has been on medication, called prostoglandins, to keep this fetal structue intact while they figure out how to fix things.  However, once surgery is over, the medication will stop and the ductus will disappear.  The surgeon will remove the left pulmonary artery from the truncus and then utilize a patch--made of either homograft or pericardial tissue--to connect it to the right pulmonary artery.  This process is called unifocalization.  Unfortunately, because the right pulmonary artery comes off the ductus that will disappear, the distance between the two is fairly significant.  The hope is that the patch will allow the pulmonary arteries to continue to grow and feed the lungs, but the patch, like the stent, will not grow.  So, Jellybean will have a lifetime of heart catheterizations to fix any narrowing of the patch and open-heart surgeries to replace the patch as he grows or it wears out.

Much of the surgeon's work will be done "on the fly" because he has to wait and see what everything looks like when he gets in there.  For eample, he doesn't know how much pulmonary tissue there is on the right side after the end of the ductus and he doesn't know how much pulmonary tissue there is from the left side and how far it will stretch toward the right side.

Recovery from surgery will be roughly 3 weeks on the good side.  Approximately 10 days to recover from surgery and 10 days to learn how to feed (he hasn't ever eaten because, the way his blood flow works, his lower body doesn't get enough blood and feeding him would tax the intestines and kidneys which may not be getting adequate blood supply, thereby causing lots of problems).  He will then be followed closely, likely with weekly doctor visits, to check the status of both the shunt and the patch.  He may need oxygen when he gets home, but we won't know until close to the end of his recovery.  At around 4-6 months, he'll need a heart cath to see how he's doing.  If his growth (weight), echos showing pulmonary development, and blood saturations (sats) are all good, they will likely put off his next surgery until he is closer to one year.  If any or all of them are less than they would like, the second surgery will be closer to six months.  And, as noted above, what that surgery will entail will depend entirely on how the left ventricle has been functioning and whether it is sufficient to pump blood to the body.

If it turns out that the left ventricle cannot function in that capacity, but pulmonary growth has not been sufficient, it is possible that Jellybean will need a heart & lung transplant.  His anatomy is such that you could not place a healthy heart into it and have the system function.  Thus, only a full transplant of both would work.  Although this is certainly on the continuum of things that could happen, at this point, the doctors are feeling good about the chance of fixing things.

Things in Jellybean's favor:  his size.  Although he's lost some weight (just under .5 lbs as of this morning), he's still much larger than most kids who undergo this type of surgery.  We grew him big and it is to his benefit.  He also doesn't have any other health issues other than the heart, so they are only dealing with the heart stuff.  This gives him an excellent prognosis.

As I write this, Jellybean is in surgery.  It's going to be a long day followed by a long recovery, but we are hopeful.  The surgeon gave us a roughly 10% mortality risk with the surgery, but admitted that it was really just a guess because there simply aren't any cases of this condition.  Jellybean is unique, his required repair is unique, and there simply is no case to which he can be compared to guess at survival rates.  All we can do is wait and see.

One final note.  Many people have asked whether Jellybean's condition is similar to what Lil' Bit has.  The answer is sort of.  Jellybean's right pulmonary artery being attached to a ductus arteriosus is likely the same things Lil' Bit had with her left pulmonary artery.  However, because we didn't know she had the condition, she didn't get prostoglandins, and the dutus disappeared and the left pulmonary artery shriveled and was gone.  The surgeon indicated that these similarities are not likely coincidental and, therefore, are likely genetic.  As such, we are certain that we are done having children.  We have our hands more than full with the two we have.

Frustration and the "Practice" of Medicine

Earlier this week, I had another visit with my high-risk ob for a growth ultrasound of Jellybean to make sure he's growing enough, but not too much.  Having conceived through IVF, I get monthly growth ultrasounds to make sure Jellybean is big enough because IVF babies are statistically smaller. At the same time, because I have gestational diabetes, I get monthly growth ultrasounds to make sure Jellybean isn't getting too big from the excess blood sugar.  Now, with his CHD, the growth ultrasounds also check to make sure he's growing appropriately in utero and not being hampered by his condition.  So far, so good.  He came in at an estimated 2 lbs 8 oz.  His belly measurement was his biggest measurement, but it was within 2 weeks of his gestational age, which is within normal limits.  During the ultrasound, we could see him open and close his mouth, open his eyes, and practice breathing.  He was relaxing and not moving too much.  He actually gave them a great view of the heart--a view we can only hope he'll give us at the next fetal echo.  So, the news was good.

It was, however, a deeply frustrating visit.  The tech noted that she had seen my file, but hadn't had a chance to review all the fetal echos.  I told her what I knew.  She talked about how she was planning to take a fetal echo class in the future and that she must need it because she couldn't see the VSD.  I told her that the cardiologist had told us it was hard to see because of its location, so it didn't mean she was necessarily bad at it.  I didn't really think anything else about it until the doc came in and the first thing she started with was how she just didn't see anything wrong with the heart.  She indicated that the docs at the hospital would be able to have a better look once they could do an echo directly on Jellybean after he was born, heavily implying that she thought there was nothing wrong and it would show that.  This made me really mad.  We've now had two different cardiologists do painstakingly long and involved echocardiograms on Jellybean and they both saw things that concerned them, but here is the high risk ob--who has some knowledge, but it isn't her specialty--heavily implying they are wrong and we're getting worked up about nothing.  I get that medicine isn't always precise and that the very nature of a fetal echocardiogram increases the inability to provide a precise diagnosis right now.  But, honestly, it doesn't help to keep getting pulled in every direction.  Maybe she thinks she's helping, but she's not.  Just when I think I might have a handle on my stress and my emotions, it feels like the world gets yanked out from under me.

My gp has adjusted my anti-depressant and it seems to be helping, but, at the same time, my baseline keeps moving.  Fortunately, I have another visit with him coming up to talk about how I'm doing with the new meds, and I hope to get a little help about whether I'm handling things appropriately and what to do with all this conflicting information.  I also have a visit with my regular ob in 2 weeks, a few days before the next fetal echo.  I have more confidence in her than the high risk ob--and a better relationship--so I'm hopeful she will be able to help me sort through this stuff.

Ultimately, I won't know anything until the next fetal echo, so it's mostly just an issue of keeping my head above water and trying to stay functional until then.  Usually, I would do this by planning and researching, but now that only seems to bring more anxiety because I'm not sure if I'm doing it needlessly.  I had just started researching the hospital in Detroit where I would deliver if it comes to that and, suddenly, I'm overreacting in the eyes of one of my docs.  I'm trying to get a handle on what having a c-section versus natural delivery would mean, not just in terms of recovery, but what it means for disability leave and medical bills and being able to be present to help with the kid to come and the kid I have, and I keep being told that there's no reason for a c-section because, even if there is something wrong, Jellybean can probably tolerate natural delivery and that's really what's best.  Really?  How can we even say what's best when we don't even know all the parameters yet?  My guideposts keep getting moved, my whole foundation is unstable, and all I can do is flounder.  I hate feeling stuck.  I hate feeling powerless.  I hate having knowledgeable professionals tell me vastly diverging beliefs about the health of my child.  Medicine is great and the advances it provides for are amazing.  But right now, all I want is a definitive answer or, barring that, a little consensus.  Is that really too much to ask?