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.

Don't Know Why

As we have shared the news of Jellybean's heart issues with people, we've have two main questions:

1)  Is it the same thing Lil' Bit has?  No.  If it was, doctors would be writing this up in medical journals right now.

2)  Do they know why both your kids have heart issues?  No.  There are lots of factors that can play a role in children getting congenital heart defects (CHD).  Below is our best understanding of some of those risks and why don't seem to be applicable.

Family History
This is generally the biggest factor, hence the big jump in probability of Jellybean having a heart defect once we discovered Lil' Bit had one.  However, to the best of our knowledge, there are no cases of a CHD anywhere in either my or Phil's family.  So, although Lil' Bit's having one increased the chance Jellybean would also have one, Lil' Bit had no increased risks.

Anti-depressant Use
First, an interesting fact:  The fetal heart is fully formed by roughly 7 or 8 weeks gestation, which is generally long before most people know they are pregnant.  Thus, things that occur later in pregnancy have no bearing on whether there are CHDs.  However, because I was taking my anti-depressant prior to and during that time period, and there is a link between the anti-depressant I have been taking and babies having CHDs, we were concerned about this.  However, the drug I took (my doctor just switched me to something new) is linked to a very specific type of defect which Jellybean doesn't have, and I didn't take any anti-depressants during my pregnancy with Lil' Bit.  I have had at least seven different doctors reassure me that this was not the cause.

Uncontrolled Diabetes
Children born to women whose diabetes was not well-controlled are statistically more likely to have a CHD.  However, because my diabetes is gestational, it is less-likely to be the cause of any issues.  My doctors reassured me this is generally applicable to women who are diabetic pre-pregnancy.  In addition, my A1C test at 3 months gestation revealed a nice low average blood sugar level of like 5.5 (well in the normal range).  Because this test provides an average blood sugar level for the prior 3 months, to the extent that there was any chance I had diabetes prior to pregnancy, it could not even remotely be considered out of control.  This was not the cause of either child's CHD.

Chromosomal Abnormalities
There are lots of chromosomal abnormalities that are associated with CHDs and, because I was 34 at the time the embryos were created, my kids were at a slightly higher risk of such abnormalities than if I had been younger.  Because we are unwilling to risk a miscarriage to have an amniocentesis done, we won't know until after Jellybean is born whether he has any such abnormalities.  We do know, however, that Lil' Bit doesn't have any and, because her embryo and Jellybean's were created at the same time, there is no additional risk for him based on my increased age during his pregnancy--the risk is calculated based on the age of the egg, which was the same for both kids.

IVF
This is the biggy, and it's somewhat controversial.  Initially, there was a fair amount of research that indicated a link between IVF, particularly with the use of ICSI, and CHD.  Subsequent research indicated that the increased correlation could be because of the increase in multiples (twins, triplets, etc).  Other research has shown that although there is an increased incidence of CHD among IVF users, it is because there is an increased incidence for couples who suffer infertility, regardless of the fertility method used to conceive.  Thus, whether Clomid, IUI, IVF, or natural conception after years of infertility, the incidence rate appeared correlated with infertility, not IVF.  We had seen this research and thought that since our infertility issues were largely structural--the result of blocked tubes from a ruptured appendix--rather than genetic or hormonal, we had a lower risk.  Guess not.  In any event, the current understanding is that children conceived using IVF do not have an increased risk of developing a CHD.

So, there you have it.  The only risk factors for CHD that might have some application in our case appear not to be the cause.  And, in truth, I'm not sure it really matters what caused it.  If it turns out I did something to cause it, would being able to beat myself up about it change anything?  No.  Would pointing the finger at IVF help?  No.  I think we would have made the same choices because the odds of any child having a CHD are just so darn small.  So, to the best of our ability, we're setting aside the need to know why it happened and just focusing on what we do from here.  It seems like a much better use of our limited physical and emotional resources right now.

More Questions, Some Answers, Lots of Heartache

Today we went to Detroit for Jellybean's second fetal echocardiogram.  Three things tipped us off that it was going to be a rough visit.  First, the doctor came in after the ultrasound tech to take more pictures, and she took a while.  Second, as she finished up, she said, "I have lots of questions."  Third, she entered the consult room carrying a brochure titled "If Your Child Has a Congenital Heart Defect."  She started the consultation by indicating, again, that she had more questions than answers, in part because of things she couldn't see, and she apologized because she couldn't give us a firm answer as to what "official condition" Jellybean has.  She did indicate that she believes Jellybean has "a significant heart issue," and provided more detail and a somewhat smaller range of things to consider.

So, what we know:

1)  Jellybean has a large VSD.  Even if what they discover in the future is all fine, he will need surgery at some point.  So, there is no non-surgical option in all of this, just a question of what, when, and how many, really.
2)  Jellybean has a large right ventricle and a small, narrow left ventricle.  The ventricle "goes all the way down" which means that it is likely usable once the VSD is repaired and also rules out hypoplastic left heart syndrome.  (Note--my last post may have indicated the right ventricle was smaller than the left.  That was a mis-remembering on our part.  It was the left)
3)  There were three structures she could not see:  the ductal arch, the branch pulmonary artery, and the second outflow.  At this point, she can't say with certainty whether she simply cannot see them, or if any of them don't exist.  So, we're headed back somewhere around 30-31 weeks gestation in the hopes that a bigger baby will provide a better view.  However, as with all things ultrasound, baby's position and cooperation are key and it's possible they still won't know anything for certain.  She said that if she still couldn't see something at that point, they would likely err on the side of assuming it wasn't present.
4)  There are two main diagnoses we are looking at depending on what, if anything, is missing:  Truncus Arteriosus (rare)--where there is only 1 great vessel; and Double Outlet Right Ventricle (very rare)--where two great arteries both come off the right ventricle.  Both of these conditions would require surgery, but only one (I think the first, but I'm not certain) would require Jellybean to be in the NICU and have surgery before ever going home.  Thus, one diagnosis would require a Detroit OB and delivery and the other would likely permit local delivery and a later trip to Detroit for surgery.  Either of these conditions could be fixed with a single surgery, or could take multiple surgeries and still require a transplant down the road.  It will all be dependent on what the specific facts are for Jellybean.  If it turns out nothing is missing, see point 1.

On the plus side, the cardiologist was super nice.  She indicated that all of the other pediatric cardiologists were currently looking at the images of Jellybean so that whichever one of them saw us again would be familiar with him.  She also thought we were doing a very nice job keeping it together and thanked us for not screaming and yelling at her.  We talked about the fact that my OB's office kept talking about doing genetic testing and amniocentesis and how, because Jellybean was an IVF baby, we thought any risk of miscarriage was too big a risk.  She agreed and asked why they were pushing.  I indicated that the OB's office told me that the surgeons would want a full genetic test done before surgery.  She admitted that they would, but said, "We'll take a few cells after he's born.  You protect that baby.  If you're not going to do anything differently because of the results, there's no reason to have it done."  That was the point at which we both got a little weepy.  She also told us we asked really good questions, so that made us feel better.

We are both still processing all of this information.  Some moments are overwhelming.  Other moments I feel fine, which makes me think I'm just in denial.  But some of it still feels like familiar territory, and I know that coping with Lil' Bit's heart issues really has paved the way for me to handle this better than I would have otherwise.  Still, it's frustrating that the only thing we know for sure is that Jellybean has some type of heart issue that, at some point or another, will need surgery.  Oh, and we know we'll get at least two more trips to Detroit.  I'm just glad we opted to take a peek in the first place.