Update On Life

I have been out of touch for quite some time as life has turned upside down for us. This will be a long recap in as much detail as I can handle at this time. It is scattered and may make no sense at time, please bear with me. 

March 1st - 18 weeks

We went in for our monthly perinatal appointment. Everything was going great and we were enjoying watching our two babies wiggle around. Our girl and boy sexes were confirmed.  We were just so happy!

Then the end of the appointment came and we were told that our little girl's heart did not look right and our little boy may have clubbed feet. It was also mentioned that she was unable to detect our little boy's stomach.  We were shocked and I started sobbing.  Our concern for our little girl was high, but we hoped that she wasn't getting a clear picture of her heart. Our boy's feet was saddening, but not a big deal as B and his other family members have had various degrees of this condition. The perinatologist referred us to a cardiologist pediatrician at Children's Hospital of Orange the next day. 

We left the appointment not knowing what to expect and really raw emotions. 

March 2nd

That next afternoon we drove to meet with Dr. R for a fetal echocardiogram. We waited and waited while watching all of these babies and children go in and out of the office. My heart broke for them and I quickly realized that this could be our future as well.  An hour after our scheduled appointment we were finally escorted into the exam room. We discussed the perinatologist findings and then began the echocardiogram. It was quite painful due to the pressure needed for a clear picture. The doctor had a very hard time seeing the needed images, this process took at least an hour in itself. Then came the findings talk. He confirmed that our little girl does  have a severe congenital heart defect, specifically Hypoplastic Left Heart Syndrome.  I was at a complete loss having already done research on this particular defect the night before  Trying to control my tears and take in everything he was saying to us was no easy task.

What is Hypoplastic Left Heart Syndrome?

Hypoplastic Left Heart Syndrome is a rare and life threatening heart defect.  The left side of the heart does not develop completely, including the mitral valve, left ventricle, aortic valve, and aorta.  The left side of the heart is unable to send enough blood to the body. As a result, the right side must maintain enough circulation for both the lungs and the body. The right ventricle can support this circulation forma short time, but eventually the extra work load will cause the right side to fail. Left untreated this will ultimately result in the death of our little girl shortly after birth. 

In summary, the only possibility of survival is a connection between the right and left side of the heart, or between the the arteries and pulmonary arteries. This entails three open heart surgeries. The first stage is the Norwood procedure and is performed within days of birth. The second stage is the Glen-Shunt or Hemi-Fontan procedure and is performed at 4 to 6 months of age. The third stage is the Fontan procedure and is typically performed between 18 months and 3 years of age. These procedures are not a cure. The survival rate after the first surgery is 75%.  In early adulthood there could be a need for a heart transplant.  Unfortunately there is no long term prognosis for this condition.

March 4th

At the encouragement of our OB, perinatologist, and pediatric cardiologist I reluctantly agreed to under go the amniocentesis procedure.  We first went through another round of genetic counseling.  All doctors believed that our little girl may have chromosomal issues, but not our boy.  My emotions were pure anger and I harbored ill feelings towards those that continued to give us bad news.  The amniocentesis was performed by our perinatologist shortly thereafter. This was an awful and painful experience for me as I was experiencing contractions. After a bout with anxiety and dizzy spells I was sent home to spend the next few days in bed.

The next week was filled with a lot of difficult emotions, tears, what ifs, and research.  It was hell. 

March 11th - the end of 19 weeks

Our genetic counselor called with the results while B was still at work. I was white, clammy, and could hardly hear her through my own beating heart.  She proceeded to tell me that our little boy has Down Syndrome and our little girl's chromosomes are normal. I broke down in hysterical sobs in bed and waited for B to come home. I broke the news to him and we both cried for our sweet babies.  

March 16th - 20 weeks

B and I met with the head cardiac surgeon of CHOC.  I cried through the entire appointment and was unable to convey any of my questions or concerns. He basically gave us the rundown of the procedures, risks, outcomes with out any pep talk of hope. We both left feeling pretty empty. 

Our next appointment was a tour of the CHOC nicu with the most amazing and compassionate RN. She walked us through the nicu and cardiac nicu explaining everything to us. It was such a sad and overwhelming experience. I would glance at B and say to myself I am losing him, he is not taking this well. Seeing all of those babies with their various conditions just rips your heart out. How can this happen to such innocent little ones?  This also brought back memories of my baby sister who we lost to cancer. I never in my life thought I would be in this situation again. But here we are....

March 17

Yet another perinatologist appointment. We were hoping to see our boy's stomach as well as discuss the genetic results. Every doctor was shocked at the genetic outcome, they were sure our little girl had more issues. Turns out our boy's problems grew and grew. The ultrasound showed that his kidneys were dilated and still no stomach. We were quickly losing hope.

Dr. P suspects Esophageal Atresia.  This is a birth defect in which the esophagus, which connects the mouth to the stomach, is shortened and closed off at some point in it's length. The severity is unknown until after birth.  A child will not survive with out surgical treatments. Then survival rate after surgery is close to 100% in otherwise healthy infants although this condition has it's own life long complications. 

Now for the worst part. With Esophageal Atresia there becomes the problem on Polyhydroamnios. This is a condition where the amniotic fluid builds up during pregnancy. This carries the risk of premature ruptures of the membranes, placental abruption, fetal growth restriction, stillbirth, postpartum hemorrhage, premature labor and delivery.  The treatment for polyhydroamnios is medication that can be taken up to 32 weeks (still to early for our little girl) or through amnioreduction. Amnioreduction is the removal of excess fluids through amniocentesis. This, however, carries risks of infection and pregnancy loss. Most likely the amniotic fluids will build up again after draining.

This is the worst diagnosis for our twin pregnancy that is already considered high risk for preterm labor. The possibility of premature labor and delivery will give our little girl no chance to fight for life. 

March 23 - 21 weeks

We meet with the gastrointestinal surgeon, Dr. G. While this appointment was heartbreaking, we found him to be the most honest and compassionate doctor we have met. He truly felt pain for us in our situation, so much that he gave us his cell phone if we ever need to talk. I could have hugged him. He went on to explain how severe the EA condition is for our boy paired with Down Syndrome. It was an awful picture. 

In conclusion

All of our doctors have commented that they have never come across such a pregnancy as ours. Typically there is one healthy twin and one twin with problems - not both!  Even though I know there is no one to blame for these conditions, I cannot help but feel so responsible. I feel as if I am failing my babies, it is my job to bring them safely into this world.  

When we are out I cringe when asked about our pregnancy. It's hard to put on a happy face and pretend that all is well. Inside I just want to yell that my babies are sick, they may die, I may never get to hold them. I am angry, sad, desperate. However, I refrain from putting my miseries onto those that mean well as I walk away with tears. 

Sleep has been a rarity for me, nighttime is my foe. I cannot control my mind from wandering into dark thoughts. I fall prey to thoughts of life without children again. Naively I put that behind me when we made it through IVF and the first twelve weeks.  

So here we are with our lives turned upside down. How could this perfect life turn so awful in such a short time?  How can this be happening after all we have suffered and endured?

 Despite all of this I must find hope. Hope for life. Hope for a happy future.