A Lot of Faith Needed: Tetralogy of Fallot, Chromosomal Disorder Diagnoses
We named our daughter Alana Faith, because it sounds like “a lot of faith.” It felt appropriate given how greatly we needed to lean on it from the very beginning of her life.
A Complex Combination of Diagnoses
Alana was born with a complex form of tetralogy of Fallot (TOF) with pulmonary atresia and major aortopulmonary collateral artery (MAPCA) with multiple blood vessels obstructed. TOF by itself is a complicated heart defect and is actually a combination of four heart defects occurring together. She was also born with a rare unbalanced translocation chromosomal disorder that doesn’t have a name; which we have dubbed the “AM Syndrome” after Alana and her younger sister who also has the condition. She’s missing some of the 14th chromosome and has an extra 17th chromosome that translocated to the 14th chromosome. In addition, she has microcephaly, kidney and bladder issues, cataracts in both of her eyes and coloboma, where she’s missing some of her iris and retina.
How It All Began
Other than constant morning sickness, my pregnancy was relatively typical in the beginning. That all changed at my 21-week ultrasound when the routine test showed that something wasn’t right. Further testing found that there were issues with her heart, a chromosomal abnormality, and insufficient growth. We met with a local cardiologist in our hometown of Louisville who determined that she had this complicated form of tetralogy of Fallot.
We were overwhelmed with all sorts of emotions, but fear was the most prominent. The unknown is frightening. I had previously had a lot of miscarriages and was worried that it would happen again. We leaned on our faith and prayed for the tiny life inside of me.
Alana Came Unexpectedly
We were hoping for her to stay in utero for as long as possible. Our birthing plan consisted of having all of the doctors that would play a major part in her birth present, but you know what they say about the best laid plans. After a phone call with my mother where she informed me of the birth of my newest cousin (my family was going through a growing phase and Alana was the last baby we were waiting on), she casually mentioned it was Alana’s turn and she could come now.
I guess Alana heard that and it was all the motivation she needed. Not even five minutes after hanging up with my mother, my water broke unexpectedly at 32-weeks. I was quickly rushed to the hospital via ambulance. The medical team tried to stop the contractions so that she could continue to grow in utero for another couple of weeks, but her heart rate kept dropping. Therefore, they needed to perform an emergency c-section. My husband says that what happened next felt like a scene straight out of a movie. They ran me, while in my hospital bed, down the hallway to the OR. She was born that same day and that’s when our faith was truly called upon.
The medical team didn’t think she would make it through the night. We prayed, and our friends, family members and church prayed. We were so grateful for the support of everyone around us. She pushed through that day and we soon realized that it was just the beginning of her journey.
Alana’s First Months of Life
The next few months were quite the roller coaster. Alana spent the next 82 days in the neonatal intensive care unit (NICU) at our local hospital in Louisville. After we were released from the NICU, we would be in and out of the hospital quite a lot due to various illnesses she would experience while we waited for her to grow. We knew that she would need heart surgery soon to repair her cardiac anomalies. The plan was to wait for her to get bigger and we were set to have the surgery in Louisville. However, after several meetings with the surgical team, they thought that surgery would not be the best option for her due to the severe form of tetralogy of Fallot. We reached out to Cincinnati Children’s for a second opinion to see if they would be comfortable performing the complicated surgery that Alana needed.
The Plan for Alana’s Surgical Repairs
We made our way to Cincinnati Children’s Heart Institute and were immediately comforted by the plan the team outlined. After a heart catheterization in January with the Cincinnati team, they felt confident that we could move forward with the heart surgery, which would take place in July of 2018. The open-heart surgery would close the holes in her heart, remove or tie off the unnecessary MAPCAs and create a conduit between the right ventricle and lung arteries.
Alana had her big procedure on July 9, 2018, when she was just one year old. It was a miracle to us that she was able to hold off for that long. We kissed her before she underwent anesthesia and we returned to the waiting room where members of our family and church came to sit with us during her surgery. We felt so fortunate to have them there. They kept our other two children entertained and our minds occupied. I didn’t want to be alone with my thoughts, as I am a natural worrier.
The surgery took about nine hours and she did beautifully.
Alana stayed in the hospital for 10 days, where she recovered really well. Once she went home, she needed oxygen for the first couple of weeks. After that, she was able to stop. She was also able to taper off the majority of her medications following surgery.
The best part of her post-operative follow-up was the fact that once we were home, we didn’t have to travel back to Cincinnati. They coordinated her care with our local cardiologists in Louisville. We are eternally grateful for the care she received and we hold the hospital dear to our hearts.
Alana is now 2.5 years old. From a cardiac standpoint, she’s doing really well. She has yearly follow-ups with the team in Louisville, and that’s it. We’ve started seeing other specialists in Louisville for the other conditions that she has. Because so few children have her combination of disorders, we’re still trying to learn her and what she’s capable of. She can now speak a few words and is sitting up on her own. Most recently, she started eating by mouth. She has refused all solid foods before this, so taking small bites is a huge step forward.
We celebrate the little things and continue to take it a day at a time. No one has been able to give us a long-term prognosis because she has so many other complications that are not related to her heart. So we continue to pray and have “a lot of faith” that through God she will do great things in her life.