Claire's Story

We were so excited to find out we were pregnant with our first child in April 2010.  We went at 5 weeks and had our first ultrasound where the technician did not hear the heartbeat.  So the OBGYN warned us not to get too excited yet, but we couldn't help it.  They scheduled us to come back in a week for another ultrasound.  Luckily at the 2nd ultrasound, we heard the sweetest sound of our child's heartbeat. 

I had a pretty normal pregnancy, but when we went on July 23, 2010 to find out if we were having a boy or a girl, the ultrasound tech saw something odd.  Of course we were excited to find out we were having a GIRL, but then worried since the doctor wasn't sure what was going on with my placenta.  He said they thought it looked cystic, but he really wasn't worried about it.  Even when I called back after the weekend (of course we found this out at 5 pm on a Friday!), his words were "frankly, I am not worried about this."  But they sent me to ECU to have a better ultrasound done to just check it out.

Once at ECU, they did a very thorough scan of my placenta.  The doctor there didn't think it was cystic, but maybe just aneurysms in a small mass on a small portion of my placenta.  Nothing to worry about - just something to watch.  But she asked me to come back to the ultrasound room because she wanted to look at something else again.  I didn't think anything about it.  After round 2 of ultrasounds, she came back to the consult room and told us she thought she saw a small hole in Claire's heart.  She almost didn't even say anything to us about it.  But she said she was very cautious and also a mother, so why not just rule it out with an echo.  She said she saw it on one or two of the still photos, but not when she looked at Claire's heart in motion.  The doctor even explained that sometimes when they do an ultrasound on a thin person (hahahahah - me????) that the ultrasound waves just go through the tissue and makes it look like a hole but there usually is not one there.

So we left not really worried about anything.  Both of my best friends had to have the same fetal echo done on their babies at this same office and they said it lasted about 10 mintues and they never found anything.  Just a scare.  So that's what I figured would happen to us!  Luckily we were able to get the echo scheduled pretty quickly and in about 2 weeks I went back thinking it would be a quick visit and we'd be out of there feeling good about everything. 

About 1 hour later after the fetal echo started, I knew something wasn't right.  The doctor and the technicians were talking and saying "look at that...", "is that transposition?", "that is strange...".  I started crying and they assured me they would explain everything to us once they were done. 

I don't really remember much about the consultation afterwards except the doctor came in with a diagram of a normal heart and of Claire's heart to explain the differences and to tell us about Tetralogy of Fallot.  I busted out crying again and he was very understanding.  He explained all of the details about TOF and that Claire also had a right aortic arch (meaning her aorta was backwards).  The only other thing I really remember him saying is "this is 100% fixable."  Also, they noticed a small cyst on Claire's liver that day too that they had not seen in the previous ultrasound.  They just thought this was something to watch at each monthly ultrasound.  Ok.  Then I had to go home and break the news to Trent.  August 25, 2010 was the day we started figuring out how to best take care of Claire and her heart.

So we were referred to Duke by several friends and doctors that we knew.  We went on September 3, 2010 to tour Duke and to have another ultrasound and fetal echo done for a second opinion.  Duke pretty much found the same things that they had seen at ECU.  The liver cyst looked bigger at this ultrasound though.  The OBGYN suggested we get an amniocentesis to check for any chromosomal disorders, especially Di George Syndrome.  When babies have TOF and a right aortic arch, it can mean that they have Di George Syndrome, a chromosomal disorder that can affect their immune system, thyroid, calcium, etc.  We decided just like we had before with the AFP test that we did not want to do that.  We wanted our baby whether she had a chromosomal disorder or not and the risk of going into early labor with the amnio was too risky (they later tested Claire for Di George and any other chromosomal disorders and all the tests came back normal).

I was scheduled to go on October 5th for our 4D ultrasound to see Claire's little face and then go back to Duke around that same time for another check up ultrasound and fetal echo. 

The weekend of September 25th, my legs and ankles became extremely swollen.  I even got comments that weekend of people thinking I was due any day since my belly looked so large.  Funny thing was that I was only 6 months pregnant and I had hardly looked pregnant the whole time.  So why such a dramatic change?   I had my check up appointment at the OBGYN at home that Monday to get my RhoGam shot  and had gained 8 lbs in 10 days.  That was crazy for me since I had only gained 15 lbs the whole 6 months.  They noticed my swelling and the doctor checked me out.  We figured since my blood pressure was normal that it was just some normal fluid and swelling and for me to keep my feet up. 

Tuesday I just didn't feel right most of the day.  Claire was not moving a whole lot so since I work at a doctor's office, I went over and asked the ultrasound tech to please do a scan and make sure Claire looked ok.  She was shocked to see how big the liver cyst was at this point.  It showed up as a large black circle that basically took up Claire's entire abdomen.  But Claire was moving around and her heart was beating great!  So I felt a little relieved and went on about my day.

Wednesday morning, Sept. 29th, I woke up to get ready for work.  I noticed my stomach was hurting so I figured I had slept in one position all night and it was just sore.  I went to the bathroom and noticed that I had a lot of blood and something wasn't right.  I tried calling the OBGYN office but they weren't open until 8 am and didn't have anyone on call.  So I got dressed and figured I would just be there when they opened the doors to get checked out then head to work.  When I got there and checked in, I realized I was having contractions.  That was why my stomach had been hurting that morning.  I started writing the times down and they were about 3-5 minutes apart.  They took me right back, checked me, and told me I was 1 cm dilated and in labor at 28 weeks. 

The midwife was so nice and drove me to the hospital so I could meet my family there.  I was admitted and started on IV fluids and meds.  They called Duke and arranged for me to get there ASAP.  Unfortunately, we were having terrible weather (we eventually got about 22" of rain that week) so they couldn't fly me on the helicopter.  So I had to ride in the back of the ambulance for the 2 1/2 hour ride in labor.  By the time we got to Duke, my back hurt so bad from laying on that gurney I thought I would scream!

Once I got into my room, I was more comfortable.  They loaded me up on magnesium sulfate to try to stop my contractions.  They pretty much told us that if Claire was born today that they were not sure they could save her heart if she needed surgery right then.  She was too small.  So we needed to get the steroid shots for her lungs and we needed to keep her in as long as possible.  I was so drugged up on the magnesium sulfate that it made me so hot, I couldn't see straight, and I felt crazy. 

The next day the OBGYN decided from looking at an ultrasound that I had polyhydraminos.  This is an extreme excess amount of amniotic fluid.  They determined that Claire's liver cyst was so big it was pressing on her stomach and not allowing her to swallow the amniotic fluid like she should be.  So the fluid was backing up in my belly and causing the pre-term labor.  So our only option was to basically do an amniocentesis, but also put the needle down into the cyst and drain it in-utero.  The doctors at Duke had never done this before and it was very risky.  But we had no choice and prayed about it and decided it was the best option.  So they drained Claire's cyst in-utero and got about 90 mLs of fluid out.  This way it would relieve the pressure in her abdomen and they could send it off for testing since they still did not know what the cysts were and if they were benign or not. 

They also drained out a liter and a half of amniotic fluid from my stomach and the contractions stopped almost immediately.  They eventually took me off the medications and sent me to a normal hospital room with the thought that I would be on severe bed rest for several weeks at the hospital.  That lasted through the weekend and then on Monday morning, the doctor came in and said I was going to have to deliver Claire that day.  They determined I had a form of severe pre-eclampsia called HELLP Syndrome that was deadly to me and Claire.   The only way to solve this problem is delivery.  So I was shipped back to the Labor and Delivery floor and my sister called our family to come back to the hospital.  Everyone had gone home for a few days since we didn't think Claire would be coming anytime soon!  And home was about 3 hours away. 

So everyone rushed back, they put me back on magnesium sulfate and waited.  They did several fetal echos and ultrasounds.  They said my placenta did look cystic and it didn't really look confined to one area like we originally thought.  Claire's cyst had already re-accumulated with fluid in just those few days.  The OBGYN figured I would have Claire by 1 pm.  At 5 pm, Claire still had not been born.  She was amazed.  So they just decided to watch us and see what happened.  This meant lots of labs for me since they were concerned about seizures, blood pressures, my liver functions, blood platelets, etc.  I guess it was a good thing I was somewhat out of it due to the mag sulfate that I didn't really understand how scary this situation was. 

Monday passed and Tuesday passed.  Tuesday night (Oct. 5th - our 8 year wedding anniversary), I couldn't get comfortable. The contractions got a lot worse and Claire was on the way!  She arrived on October 6, 2010 at 1:16 am 16 3/4" long at 29 weeks.  Her due date was December 22nd.  Claire weighed 3 lbs 2 oz and was rushed directly off to the NICU.  It wasn't until around lunch time that day that we could see her.  Claire battled lots of preemie issues while in the NICU including extremely low birth weight, Rh Incompatibility, apnea of prematurity, and bradycarida.  She also had her liver cyst drained by needle aspiration again 4 times while there.  Before coming home, Claire had a liver surgery (Jan. 11, 2011) to deroof the biggest cyst.  Basically the surgeon cut parts of the cyst wall out so the fluid will drain directly into her abdomen and be excreted by urine.  Claire stayed 99 days in the NICU and came home on January 13, 2011! 

Later we found out that my placenta was totally cystic, fell apart in pieces, was huge and probably squishing Claire in my belly.  It weighed 805 grams (a normal 40 week placenta weighs 500 grams) at 29 weeks and the doctor said it had done what it was going to do for Claire and was out of steam.  Another reason I probably went into pre-term labor.  We found out in November 2011 from research done at Seattle Children's Hospital that Claire's liver cysts and the placental cysts were connected.  And that Claire has Androgenetic Biparental Mosaicism.  See the posts: and

Claire went back for check ups after coming home in January and they decided to do her complete TOF repair in February 23, 2011.  Claire had good pulmonary flow even though she had TOF, so she never looked blue and her O2 saturations were always in the 80s to 100 unless she had a desat period and then it would drop down to the 70s.  Thank God she never had a tet spell either before having her heart surgery. 

The surgeon was able to patch Claire's hole between her ventricles with a piece of cow skin and also open up her pulmonary artery to allow better flow to her lungs.  Luckily, Claire's surgery was a valve sparing surgery meaning they didn't have to cut open the valve portion of her pulmonary artery.  This is usually the part that leaks and causes a second surgery in about 20 years.  So her chances for needed another surgery is very slim, but not out of the picture.  Claire's surgery went better than expected and she spent 4 days in the PCICU and then 3 days on the floor in a regular room.

Claire came back home on March 1, 2011 and recovered well from her open heart surgery!  She started out going for check ups every 3 months, then 6 months, and now we are at annual appointments!  He will have annual cardiology check ups for the rest of her life.  Her last ECG and echo after her surgery looked great!  The murmur is quieter meaning no big obstructions and her O2 sats are staying at 100%!  And her blue blood and red blood are no longer mixing!

Claire had her liver resection on May 5, 2011.  It was about a 5 hour surgery that also included an inversion appendectomy, gallbladder removal, and repairing 2 inguinal hernias.  She stayed in the hospital for 1 week.  Her incision was approximately 8 inches long across her entire belly.  The surgeon removed about 75-80% of Claire's liver (the entire right lobe and partial left lobe).  She had to leave the small cyst in the left lobe because it was down inside the tissue and if she would have taken it out, she would have had to remove too much of the liver tissue and was worried the liver wouldn't function after that.  The results came back and confirmed the cysts were still benign and confirmed the hepatic mesenchymal hamartoma diagnosis.  We went back in August 2011 to have a 3 month post-op ultrasound done of Claire's liver.  Her left lobe had regenerated "considerably" which is great!  And they didn't see any new cysts.  We will continue to carry Claire back once a year to ultrasound her liver to check for cysts or changes.   At the last ultrasound in June 2012, her liver looked great and there were no visable cysts!

Claire has also had some genetic testing done to see if all of these defects are connected along with the placental issues I had with her.  The microarray came back normal! Yay!  We got the results on the ABM, PMD, and HMH as you read in the above posts.  Genetics will continue to follow Claire every so often just to follow up and see if anything has changed and to also keep up to date on new research on ABM that might affect Claire in the future. 

As of August 2012, Claire weighed about 29 lbs, measured about 33" tall and is doing GREAT! 

We have been blessed with such a strong little girl.  Her strength and determination amaze us every day.  We could not have made it through these times with Claire without our faith in God and every one's prayers.  We try to keep Claire's blog updated as much as possible with what's going on in her life at that time, not only for everyone else, but for ourselves to remember and reflect.  And hopefully for Claire to read one day!  We are proud to be the parents of a special little girl!  Claire is one tough cookie and is so full of life and personality.  Her heart has been mended and so have ours.

Check out the rest of Claire's blog by clicking on the "HOME" tab at the top of the blog!  That's where you will find LOTS of pictures!!  :)