Audrey Claire Koch

Audrey Claire Koch is our precious, smiling daughter, and we are amazingly blessed to have her alive with us today! This is her story – up until today, when she is 19 months old, living and thriving with Long QT Syndrome! In April of 2010, we were excitedly 20 months pregnant, with our third child. At 39 years old, I was used to the doctor appointment schedule including the routine Perinatal visit, in addition to all the regular OB appointments. At the 20 week Perinatal appointment, our lives would change forever, unexpectedly. During the exam our doctor, Dr. Gomez, detected an abnormally low ventricular fetal heart rate, around 70bpm – this was called 2:1 Atrioventricular Heart Block. He was calm, but I could tell alarmed, and I was sent immediately for bloodwork, and then following to Sibley Heart Center Pediatric Cardiology for assessment. At the Pediatric Cardiologist, after an extensive fetal echocardiogram, I was told that there was a possibility that I could have maternal onset of Lupus, that had caused this Heartblock issue, or maybe a virus or a structural issue with the baby’s heart. Either way, the baby was at risk, and I would need to be monitored weekly, for the remainder of the pregnancy, and until they decided to deliver the baby. I was put on steroids through the weekend, until my bloodwork returned 4 days later.

The bloodwork revealed that I did not have maternal onset of Lupus, nor a viral issue, and there were not structural concerns with the baby’s heart. The Pediatric Cardiologists took me off of the steroid (that had been for the potential Lupus), and I was told to return a week later. I was followed weekly from weeks 20 through week 25, while our baby held steady with a low heart rate of 70-ish bpm. Everything felt normal inside to me, but we had so much anxiety and worry not knowing what the real problem was. Our phenomenal Pediatric Cardiologist, Dr. Sallee, continued to research the issue and to consult with experts across the country in fetal heart rhythm disorders, including Dr. Cuneo. We were fortunate enough to have them suspect Long QT Syndrome. With no family history of unexplained deaths, syncope or Long QT Syndrome, we were not able to confirm this diagnosis, but would proceed with suspicion. On May 11, 2010, at our 25 week appointment, we went in for the then typical echocardiogram. The doctor was surprised to see that the heart rate had shifted from very low in to a very high rate, up in the 270-ish bpms. This was sustained ventricular tachycardia with ‘torsades de pointes’, which is typically a lethal rhythm in which the heart is beating incorrectly. Because this was happening in utero, the baby would be able to sustain this mode for up to even a couple weeks, with support of a mother’s bloodline. However, this was a high-risk situation, and we were immediately sent to the hospital and admitted to the High Risk Perinatal Unit at Atlanta’s Northside Hospital.

At the hospital, we began treatment with a beta blocker Propranolol, of which was given to me, in hopes of it crossing the placenta and reaching our baby. We were monitored three times a day through fetal heart rate monitoring, and once a day with an in depth echocardiogram. After ten days of what sort of appeared to be improvement, the decision was made to add the anti-arrhythmic drug Mexiletine in to the mix, in hopes of further controlling the baby’s heart. We were also given boluses and oral doses of magnesium. We came to learn that Propranolol is commonly used to treat Long QT Syndrome, and Mexiletine more so for Long QT Syndrome Type 3. During this hospital time, we did also find out that our baby was a girl! Our two other children, ages 4 and 7, were so great, holding down things at home, while we juggled among amazing grandmother care, carpools, and the unexpected void of Mommy being swiped away to the hospital. After 40 days of daily monitoring and titrating drugs in hopes of controlling our baby’s heart, we were had progressed much further week-wise than we ever had imagined. We were at 35 weeks! With much discussion we knew to expect that our daughter would at a minimum need a pacemaker surgically implanted soon after birth. We had hoped that she would reach the minimum weight requirement of 4 pounds 4 oz needed to place the dual chamber pacing device that she would need. At 35 weeks and 1 day, it was determined that her heart was presenting with more risk than benefit to continue with the pregnancy and that she would be delivered the next day, at 35 weeks and 2 days. We were so thankful that her delivery was able to be planned and controlled for an optimal situation. All of our favorite and best doctors were scheduled, and the emergency transport vehicle was lined up to transport our daughter to our Children’s Hospital, where she would receive the best care, under the Electrophysiology team including Doctor Fischbach and Doctor Strieper, at Children’s Hospital of Atlanta.

On June 14, 2010, we excitedly but anxiously prepped for the c-section arrival of Miss Audrey Claire Koch. She came out pink and screamed – which were both great things. She was a hefty 5 pounds 12 ounces, which was an easy clear, for a pacemaker. After a quick cuddle, she was taken to the NICU for cardiology assessment. Her ECG did confirm Long QT Syndrome, and she even showed off by shifting back in to the ventricular tachycardic rhythm again. She was treated through IV with lidocaine, until she could get the oral medications in place again. The transport team did bring her by once as I was coming out of recovery before transporting her to Children’s Hospital of Atlanta. Over the next few days, we did lots of photo sharing and updating, with Daddy going back and forth between the two hospitals. I was able to leave on a special pass, and go visit her on day 3. We were told them that the plan was to proceed with surgery for a pacemaker the next day. This would align well with my discharge, also scheduled for that day.

On day 4, cardio-thoracic surgeon Dr. Kanter, implanted a dual chamber pacemaker into Audrey’s abdomen, with leads up to her heart. We waited, watched and monitored for days until she was stable enough to go home. We were very nervous leaving with no monitors in place. We were told to watch for heavy breathing, uncontrollable crying, blueness, or unresponsiveness, as signs of cardiac arrest. However, we were thrilled to be leaving, finally, after 52 day bound to hospitals. Audrey was stable. We were exhausted, but thankful, and anxious to get home to our ‘normal’ life again. The next few months would reveal through genetic testing that Audrey did for sure have Long QT Syndrome Type 3, but that none of the rest of us are carriers for the condition. This meant that she was a result of a spontaneous mutation (also called a ‘de novo’, or startup case). Audrey had a fantastic first year of life. She went everywhere with us, and did not a lot different than any other child, outside of taking two medications, three times a day. She was loved on tremendously by everyone, especially her brother and sister. We continued with check up appointments, and also dial-in uploads of her pacemaker data. All was good. We hosted a big 1 year old birthday party for her, as we were crazy thankful to have made it through that first, most high-risk year.

At 1 year, on June 27, 2011, we went in to our Children’s Hospital for Audrey’s scheduled cardiology appointment. All of her pacemaker data read well. Then, Audrey unexpectedly got very worked up, cried hard, and vomited following the ECG. We were all confused, but thought it was maybe a stomach bug. We packed up to leave the appointment, heading home. When we got down to the lobby of the Hospital, we noticed that Audrey had fainted, and was unconscious. We picked her up out of the stroller and called for help. She gagged, which sort of seem to bring her around. We took her quickly back up to the cardiology office. She was put on ECG again, and it was confirmed that Audrey had just had her first official cardiac event/syncope. The doctors proceeded to admit her immediately to the CICU. We were asked to leave the area, which is standard, while they inserted lines in to her for IV care.

During this time, while we were outside, Audrey lost her pulse. She required compressions and also two AED shocks. Fortunately, the second shock did return her to a normal rhythm. We were in shock ourselves to learn of this. This event would earn Audrey a recommendation for an upgrade from her existing pacemaker device to the more serious implantable cardiac defibrillator (ICD), which also has pacemaker functionality. After much consideration, 10 days later, Audrey had surgery again, to receive an ICD. We went home after 18 days again in the hospital. During that time, there was also recommendation for Audrey to have a further surgical procedure, a left side cardiac denervation (LSCD), as a proactive measure to possibly prevent future arrhythmias. The SADS Foundation was an amazing help to us during this time. After weeks of research and thought, a plan was made to travel to The Mayo Clinic in Minnesota, for the procedure, under the care of Dr. Ackerman and surgeon Dr. Moir. On August 23, 2010, Audrey had her third surgery, the LSCD, also known as a sympathectomy or stellate ganglionectomy. She had minor side effects, and was discharged after 5 days. The success of the surgery would be considered a positive, unless there are future arrhythmias to come. After some physical therapy, today Audrey is fully caught up development-wise, and is in the 90th percentile for height and weight. She is a happy, amazing girl, with determination and spunk inside. We love to hear her beginning to develop words, and even starting to run! To look at her, you would know that there is nothing going on inside, although we all know that she has a very special heart. She has overcome much to date, and we hope and pray that she will continue on this path. While her Children’s Healthcare of Atlanta and also Mayo Clinic doctors continue to remind us that she is at the utmost of high-risk, we can’t help but try to live life with her in the most normal of fashion. We know that there are big plans for her in a long life ahead, and that she will continue to amaze us! Lots of Love, ...We LOVE you Audrey! With incredible love and thanks to our doctors, nurses, family, friends, and of course, The SADS Foundation for such amazing support. We're forever grateful! Written as of February 1, 2012