Fetal Intervention and Boston Children's Hospital

We posted twice today so make sure you read the post about the Jan 16th echocardiogram first before reading this one!  So this post will bring us all up to present day so you all will have the current status of where we are on this journey.  Sorry so long to get people caught up but there was a bucket load of information to relay since starting this blog.  Back to it...

Beth and I waited 6 days to hear back from Boston and finally received word on Wednesday of this week that we are indeed candidates and that a fetal intervention procedure would benefit our son.  We spoke with Dr. Kevin Friedman from Boston and he explained the procedure, some of the logistics, and potential risks and outcomes.  Here's quick breakdown of what he said.   Now this is an oversimplification but basically they take a long needle and will go in through Beth's abdomen, into the womb, into Shawn's heart, and poke through the atrial septum.  They will blow up a tiny balloon inside the right atrium and pull it through the atrial septum hopefully leaving a sufficient hole.  They will go back in and implant a stent to keep the hole open during the remainder of his development.  The hopes of this procedure if successful is that it will allow immediate flow and blood communication between the two upper champers.  This will effectively relieve any current pressure in his cardiovascular system and prevent any future such development.  We will hopefully catch it early enough to allow any damage already done time to correct itself in the safe environment of the womb.  This procedure also has the potential to eliminate the need for Shawn to undergo emergent intervention right after birth.  He'll be able to recover from the strains of birth and get nice and strong for the Stage I surgery.  

Now I want to make something clear.  This is not a fix all.  This does not place us back in the 80% survival rate of the typical HLHSer.  As with anytime you invade the environment of the womb you have a chance to lose the baby.  In this case we have a 10% chance of this to occur.  Also only 75-80% of these procedures are deemed successful and an adequate hole was created.  A lesser number yet that a stent is able to be properly implanted.  Overall survivability for this condition in where a fetal intervention was performed is slightly above 50% which is a significant bump from 10-20% if the atrial septum was left alone and dealt with after birth. 

As with many parents dealt these cards, when the time comes, we want to be able to throw the best possible hand down on the table. Beth and I feel and Dr. Farrell agrees that this procedure will give our little guy the best chance at survival and it looks as though we'll be heading to Boston!  We don't have anything final yet but the Boston doctors want this to happen within the next 2 to 3 weeks.  We'll keep everyone posted when we find out more. 

Jan 16th: Second Echocardiogram

So Wednesday last week was our second echocardiogram.  The last few weeks prior have been a whirlwind of activity from switching hospital systems, OB appointments, more ultrasounds, and hospital tours with this next echo always in the forefront of our mind.

We went in with a few questions prepared but our main concern was that atrial septum.  Would she be able to see that hole and if not could she tell if his system was already under pressure?  As Dr. Farrell started the echo it became evident to us that the atrial septum was her main goal as well.  She focused heavily on that wall looking each and every direction trying to see some relief in the left upper chamber.  Here are some of her observations as she scanned:

• No hole in the septum or flow between the two upper chambers were obviously detected so Dr Farrell began looking for other signs.
• The atrial septum was bowed outward toward the right atrium chamber kind of like a balloon blowing up.  This creates a lot of suspicion that the septum is indeed intact and the restricted blood flow from the lungs into the left atrium is causing pressure and this bowing.
• The septum wall was thick looking where it is typically very thin.  Another suspicion that the wall is counterattacking back pressure by thickening.
• There were two possible "squirts", as Dr. Farrell described, of blood flow in between the two chambers that may be some relief of pressure.  This was inconclusive.

At the conclusion of the echo Dr. Farrell went on to discuss that all signs point to us being in the high risk category of the already high risk we had with just HLHS.  She explained the likely outcomes and negative outlooks that go along with an intact or highly restrictive atrial septum along with HLHS.  It was all information that Beth and I did not want to have to hear as it meant this fight just became that much more difficult.

The drive home was not pleasant as everything started sinking in.  January 16th was a bad day and hope was waning.  Later that day Beth received a phoned from Dr. Farrell explaining that she was conferring with her colleagues about our echo.   Riley does not have much experience with this sort of HLHS complication since it is so rare.  It came up that a children's hospital in Boston is performing procedures in utero to combat this complication in attempt to decompress the system and allow the baby a better shot at life.  We went back the following day to have another echo and send the images to Dr. Wayne Tworetzky (profile here) at Boston Children's Hospital who has been specializing in this condition.  He would determine from the extra set of scans if our little Shawn would be a candidate and see some benefit from this kind of procedure.  After this echo it was just another waiting game for Boston to take a look and email us back. 

Our Visit to Riley

So we had our tour of Riley Hospital for Children and the hospital Shawn will be delivered at. I will labor and deliver in one room and then after I have recovered Adam and I will move to another room. After delivering Shawn he will be taken to a room called the resuscitation island where they have every kind of machine you could imagine plus more! Hopefully he won't need anything but if he needs it it's there. Adam will be able to go with him in there and supervise the situation. He will likely have an intern standing with him to explain everything they are doing. Once stable and there's no need for emergent intervention he will come back to our room for a few minutes so I can see him before he is wheeled over to Riley via a tunnel. He will be set up in the NICU where he will stay until his first surgery. Adam will be able to follow him over to Riley and I will be able to go over once I am stable and can be wheeled over to see him! The only bad thing about Shawn going straight to the NICU is that they don't allow anyone under the age of 18 in there so Zoey will have to wait a little while to meet her baby brother.

After the labor and delivery, Riley will become our second home.  It's hard to estimate with any certainty but Shawn will be in the hospital for at least a month and possibly longer depending on any complications that may arise.  They have many things for us to do while at Riley; they have a library where you can check out books, games, CDs and even go and play games on the game systems! Whenever Zoey will get to visit she'll have a blast going up and down the open glass elevators, riding in the red wagons, and tearing up the lobby like the little tornado she is.  They also have a small Ronald McDonald house at the hospital where you can go and take a nap or a shower and they also have a pantry that we can use to make a meal!  A lot of generous groups also come and supply cooked meals at the Ronald McDonald house for Riley families and we have been urged to take advantage of that.  It's nice to know we won't have to live on fast food and hospital cafeterias while we're there.

Riley is one of those places you never hope to have to go but with all the wonderful things they are doing and accomplishing, it's comforting to know it is there if your little one needs it.

Intact Atrial Septum

At the first echo when Shawn was diagnosed Dr. Farrell mentioned a possible complication of what is called an intact atrial septum.  I'm going to try and explain what that is and what that may mean for Shawn. 

The atrial septum is the wall between the two upper chambers (left and right atrium) of the heart.  All fetuses have a hole between these chambers that will close up after birth.  In HLHS'ers this hole is key to their anatomy because without a left ventricle there is no way of getting oxygenated blood to the body.  This hole allows the blood coming from the lungs to enter the left atrium and mix with the blood in the right atrium and then pump to the body.  Dr. Farrell was unable to positively identify that hole in the first echo and was concerned about the pressure and tension this is possibly causing our little guy.  She explained to us the outlook of HLHS along with an intact or highly restrictive atrial septum is not good and greatly reduces his chance of survival. 

The atrial septum is opened up as part of the standard Norwood procedure so fixing this condition is not an issue after birth.  The major complications that arise occur as a developing fetus.  With that wall intact there is no where for the blood from the lungs to go causing a lot of pressure and tension in the left atrium and pulmonary veins from the lungs.  The veins react to this pressure by thickening and muscularizing to toughen up.  That then becomes our biggest threat to our son if it were to happen and there is nothing we can do about it while he is growing in the womb.  He will likely need emergent medical intervention after birth to open the atrial septum and relieve that pressure.  Even after he becomes stable from this procedure and they go in for the Norwood the damage from 4-5 months of high pressures in utero cannot be undone.  The thickened pulmonary veins will still restrict flow from the lungs and he will not be able to deliver sufficient oxygen to his body. 

This condition affects only 6% of HLHS babies so if this is Shawn's case then the odds are truly not in our favor!  Further echocardiograms will hopefully provide the doctors with better images and they can pin down the severity of what's going on in there.  We will keep you posted.

Information on HLHS

Hypoplastic Left Heart Syndrome (HLHS) is a rare and complex congenital heart disease.  It occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely.  The left side of the heart is the main pumping chamber to deliver oxygenated blood to the body.  In HLHS the severely underdeveloped left side is insufficient to deliver blood to the body.  If left untreated, the condition is 100% fatal.  There is no issue during gestation as Beth is doing all the work now to supply oxygen to Shawn via the umbilical cord and his lungs are not currently functional in the womb.  Please see the image and video below to get a feel for the anatomy of a HLHS heart. 

A video from the Children's Hospital of Philadelphia:

 

  There is no known cause of HLHS.  It affects 1 in 10,000 babies and is more common in males than females.   It is sometimes (about 10%) accompanied with other developmental birth defects but that is not evident or is it a concern in our case.  Something in our favor!  HLHS is treated with a series of three staged and highly intensive open heart surgeries as listed below.

Stage 1 - Norwood procedure @ 1 week old

Stage 2 - Glenn procedure @ 4-6 months old

Stage 3 - Fontan procedure @ 2-4 years old

Now these procedures do not cure HLHS.  Shawn will have HLHS for the rest of his life.  These procedures only work to reconstruct the heart and circulatory system to manage with only one pumping chamber.  

If successful these kids live a somewhat normal life.  They go to school, play sports, hang out with friends, and even attend college someday.  That's not to say that after the three surgeries Shawn's story will end in roses and happy ending.  He will never be able to run a marathon, be a power lifter, or any other physically extensive things.  The road will be perilous and potential for complications, infections, and other developmental problems will always be around every corner.  He may need subsequent surgeries to clean up scar tissue or a pacemaker or even a full heart transplant are possible down the road.  These procedures were developed in the mid-80s so there is limited knowledge on the outlook of survivors as they mature into adulthood but we are anxious to find out as we continue this journey together. 

Some useful links:

Boston Children's Hospital: HLHS
Children's Hospital of Philidelphia: HLHS

Our Journey Begins

We truly appreciate all the outpouring of love, concern, and offered prayers for Shawn and our family that we have received from friends and family over the past few weeks.  It really has helped us weather this storm.   The main reason for this blog and email list is to give all of you updates about little Shawn as we forge this path down the road of HLHS.  We will do our best to try and post as updates come to us.

Let us start at the beginning of this journey and I apologize for the novel here, but there's a lot to update.  It was just another 20 week ultrasound.  We were so excited to finally find whether the baby would be a boy or a girl.   We had the technician put the sex of the baby in the envelope as it was our plan to open and reveal at dinner that night.  From our untrained eye and the technician's remarks everything was looking and measuring on track.  When we spoke with our OB doctor he confirmed that everything was good but they didn't get a good look at the heart and he wanted us to go for a high resolution ultrasound at the hospital.  We were told this is customary.  Babies tend to move around in there (a lot in our case) and it's tough sometimes to get a good look at everything.  We didn't think anything of it after that and were anxious to get to dinner and open that envelope!  We had a nice relaxing night out and when we opened the envelope we were ecstatic to find out we were having a boy!  Neither Beth or myself have any siblings of the opposite sex so we were excited to watch that dynamic and relationship development between Zoey and her new little brother.

A week went past and we showed up to the high res ultrasound ready to knock it out and move on.  This ultrasound was like all others except when the Maternal-Fetal doctor couldn't find all four chambers of the heart.  She left and came in with a textbook and started reading to us about the possibility of  Hypoplastic Left Heart Syndrome.  The words hit us like a ton of bricks.  We were both devastated and terrified by what the doctor was telling us.  From what the ultrasound was showing our little guy had a severely underdeveloped left side of his heart.  Basically he would be born with half of a heart.  This is an extremely rare and complex congenital heart defect and the doctor didn't know much else about it. We were asked to come back in two days and see a cardiologist from Riley Children's Hospital for a fetal echocardiogram.  The next 48 hours  were grueling.  Filled with endless research on the internet but with all the maybe's and potentials we just ultimately switched to denial.  Our hopes shifted to the doctor being wrong and we'd go to the echo and everything would be fine.  The echo proved the opposite and all our fears were realized when the pediatric cardiologist Dr. Anne Farrell (see her profile here) confirmed the diagnosis that our precious baby did indeed have Hypoplastic Left Heart Syndrome.

What happened over the next couple minutes as Dr. Farrell spoke surprised us.  We were no longer in despair, no longer in the grips of the unknown.  We knew our enemy and Dr. Farrell was giving us the weapons to fight.  She spoke of the three stages of surgeries that we will outline in another post.  She spoke about Riley Hospital and the fantastic things they are doing there for sick children.  She gave us hope.  We came out of the appointment emotionally exhausted but also feeling somehow renewed.  There was no doubt this journey will be difficult but now we know to steel ourselves for the tribulations to come.