[Thanks to Irene, who agreed to share Caroline's amazing story. Caroline's extremely rare partial trisomy and duplication, combined with a misdiagnosis of hlhs, led many medical professionals to believe that she might not survive birth, let alone live beyond it. Obviously, they were wrong. Please keep up with Sweet Caroline at her own website.]



When my husband and I discovered we were pregnant with our second child in November 2002, we were excited, but I was apprehensive. Our first darling little daughter, Christina, had just turned one so we were a little concerned about having two little ones so close in age. However, since I was considered “advanced maternal age” at 36, we knew we shouldn’t wait too long to begin trying again. We didn’t have much trouble getting pregnant the first time but we didn’t expect that we would again be so lucky. We were, and were soon expecting our second child.

The pregnancy was fairly uneventful at first and was very similar to my first. The only thing different was this nagging feeling that something was wrong. I continued to brush it off as paranoia as I have a tendency to expect the worst. I didn’t think I could be so lucky to have 2 perfectly healthy babies so close in age!

In February 2003, at the 20th week of pregnancy, we scheduled our ultrasound. We live in a fairly rural area of Pennsylvania about 2 hours north of Pittsburgh. Our local hospital did not have the most up to date equipment and my OB recommended we travel to a larger hospital about an hour away for a level II ultrasound. This type of ultrasound was recommended due to my age so they could more closely examine the baby for any problems. We had this same type of ultrasound while pregnant with Christina.

As my husband, Christina and I traveled to the ultrasound, I joked that if they found any problems with my baby to just check me into the psych ward. I was joking, but in my heart was scared to death that something could be wrong. I felt that there was no way in the world I could handle hearing that there was a problem. I knew I would literally be a basket case. I couldn’t even imagine finding out my child had physical problems or would suffer from mental retardation. I KNEW I wasn’t strong enough to handle it. I have absolutely no experience with any people who are disabled. Disabled people made me feel so uncomfortable. I felt so sorry for them and just could not imagine life as a parent of such a child.

The ultrasound went on as normal, the technician said everything looked fine but they were having some trouble seeing the heart. Finally she gave up and another tech came in. She was quiet as she looked and looked. Our toddler was growing bored as the ultrasound dragged on. At last, a doctor came in and began examining the screen. No one was saying anything. I finally asked him if something was wrong. The doctor, who lacked much personality or feeling, said “yes”. The left side of the baby’s heart is small, there were some possible problems with the baby’s fingers, nose, chin and ears. These were all signs of a possible genetic problem. He recommended an amnio right then and there. The doctor also called in a genetic counselor. All we kept hearing over and over from the doctor and counselor was that “we needed to make a decision”. They were referring to a decision on termination.

My husband and I just got cold. My stomach sank to my feet. I couldn’t breathe, I couldn’t think. I just felt like I had to know right then and there what could be wrong. I wanted the amnio. I knew I could never have an abortion, but I wanted the amnio because I felt like I would die not knowing as soon as possible if there really was a problem. One thing we didn’t want to know was the sex. We didn’t know with our first baby and felt things shouldn’t be any different this time around.

I cried through the amnio in anticipation of what they would find. We had planned on a lunch out with our daughter after the ultrasound but instead drove home trying to hope for the best.

The initial amnio FISH results came back within a week and we were elated to find that our baby did not have one of the most common chromosome abnormalities including T21, T18 or T13. The final amnio results were still pending and would be available in about a week. I couldn’t believe our luck. I thought we were home free.

Our luck, however, took a turn for the worst about a week later. At 9:00 a.m. on a Monday morning, as I was buttering a bagel for my toddler, I got the fateful call from the genetic counselor. Our baby had a very rare chromosome duplication. A portion of the short arm (the “p” arm) of the 17th chromosome was duplicated and attached to the 15th chromosome.

The genetic counselor began painting us a horrible picture of what our baby will be like. Your baby will be profoundly retarded. Your baby will probably never sit, walk, talk or learn to use a potty. Your baby may never react with you - may be almost a vegetable. Your baby may very likely not make it to term and, if the baby does, the chance of surviving the first year is slim. One thing she did mention was that my baby’s condition was so rare that the only information they had found was one article regarding eight children born in the late 70’s and 80’s, making it 20 – 30 year old data. She was basing her “facts” on very limited, outdated information. I asked if there was any way they could be wrong, she said “there are always miracles”.

I hung up the phone and called my husband at work. I could barely speak. I was hyperventilating and hysterical. He said he would be home as soon as possible. When he walked in the door, we just held each other. Christina seemed to sense a problem, but obviously couldn’t express herself. Instead, she just bopped around the house as usual. She soon became our lifeline and the one thing that could still make us smile and laugh and try to continue on with life as usual.

Again, the doctors and counselors began asking us what we wanted to do. Abortion was expected. My husband and I told them there was no way we were ending this pregnancy. In all honesty, at that point, I wanted to be pro-choice. I wanted to feel like I had an option of an abortion, and that option would make this whole nightmare just go away as quickly as possible. However, we believed wholeheartedly that this is a baby, a child with a heartbeat, and we do not have any right to decide when his/her life would end. This child’s life is no less important than our first daughter’s, no matter what problems he/she may have. I have also since learned that nothing can make it all “go away”. I think abortion initially appears as an easier way out, but I personally think, in the long run, it is much, much harder. I think many parents, who choose abortion, face mourning the loss of their baby while also dealing with feelings of guilt and “what ifs”?

The next few weeks were hell. We cried and cried until we were just sick of crying. We barely could function from day to day but, amazingly, we began to gain bits of strength and life did go on. We were able to try to keep things normal for Christina. After the doctors realized that abortion was not an option, they began recommending we meet with a pediatric cardiologist to examine the baby’s heart because they were concerned that the left side was too small.

About a month later, we met with the cardiologist. Upon examination he concluded that although the left side looks small, it is functioning just fine. He felt the heart was most likely just fine. However, he recommended a follow up in a few months just to be sure. If the left side were too small, it would be a very serious condition called Hypoplastic Left Heart Syndrome. However, he said not to worry. We left feeling quite hopeful.

We soon began feeling very uncomfortable with our OB. She seemed to act like nothing was wrong and never even talked about, or barely mentioned, our baby’s diagnosis. Each monthly visit, she checked my weight, blood pressure and urine, listened to the heart and sent us on our way. She NEVER asked how we were doing and how this situation has affected our life. She never talked about monitoring the baby a little closer to watch development or look for other problems. We decided to switch to an OB who was about a hour north of us, but who was a little more experienced with high-risk pregnancies. The new OB was more concerned and immediately began periodic ultrasounds to monitor our baby’s condition.

The ultrasound techs again questioned the heart issue and our new OB wanted another cardiologist at Pittsburgh Children’s hospital to look at our baby’s heart, again. We agreed. My husband and I drove almost 2 hrs to a much larger woman’s hospital in Pittsburgh.

Before the echo with the new cardiologist, we had a detailed ultrasound. Once the ultrasound was complete, the ultrasound doctor came into the room and held each of our hands. He said our baby did indeed have a hypoplastic left heart and would die. He said he understood how hard this is to hear, as he lost his child to leukemia. He was very kind, but again, we felt completely sick. We thought the issue of the hypoplastic heart was resolved after we saw the first cardiologist a few months ago! We were sent to the waiting room to wait for the echo. I stood in the hallway frozen. I could not move. I could not sit in the waiting room with other parents. I didn’t know what to do with myself. I felt completely lost and just sick. My husband just held me until I had the ability to enter the waiting room. I could barely keep myself under control.

A few minutes later, we were called in to see the cardiologist. He did the echo and agreed with the ultrasound doctor that our baby did have a hypoplastic left heart. He felt the left side of the heart was not big enough. He described the various options we had after birth – three surgeries, transplant or no intervention. He recommended follow-up echos for the remainder of our pregnancy.

After this meeting, we then met with the high risk OB doctors in Pittsburgh. We were taken to a small room where we were reiterated the bad news. Our baby was very small, not growing, had a hypoplastic left heart, and would probably not make it to term. Our baby was in bad shape. We decided not to put our baby through surgery or a transplant and decided on comfort care upon birth.

The rest of our pregnancy continued with routine OB visits, ultrasounds and more bad news. My baby stopped growing at about 32 weeks, but the heartbeat was still strong at every visit. I did notice many differences between this pregnancy and my last. Obviously, I was much smaller, but I also never really felt my baby move. In fact, at every OB appt, I expected to finally hear the fateful words that my baby had died. In all honesty, I was almost hoping to hear those words so we could finally end the nightmare and try to get on with our life as best we could.

As my due date approached, we had to make a decision as to where to deliver my baby. If we changed our mind, and were considering any surgical intervention, we needed to deliver in Pittsburgh where there was a children’s hospital and many more specialists. If we were positive that there was to be no intervention and we would not change our mind, we could deliver wherever we wanted.

We had decided, if our baby did make to term, we were not going to put him/her through the surgeries needed to correct the hypoplastic heart. It just didn’t seem right. If our baby was otherwise healthy, we may have felt differently, but our baby was obviously going to face many more problems and we didn’t want to put him/her through such difficult surgeries with a poor prognosis. We were only going to administer comfort care to our child.

We decided to deliver at a hospital close to home and family. We met with a local neonatologist and pediatric cardiologist. Our echo with this cardiologist had the same diagnosis as the last one - hypoplastic left heart and coarctation of the aorta. He understood that we would not be intervening with surgery and would only be providing comfort care.

About a month before our due date, we received a very surprising phone call from the last cardiologist we saw. He had forwarded our baby’s echo to a colleague for a second opinion and his colleague had a different opinion. He felt that our baby’s heart was NOT hypoplastic. The left side of the heart was small, but was most likely not too small and would probably function fine! We were in shock. The doctor went on to say that our baby definitely does have a coarctation of the aorta but the surgery to correct the coarctation is relatively simple and the he felt we should seriously consider intervening with this surgery should our baby survive birth. He went on to say that if we agree with him, and do want to intervene with this surgery, that we must deliver our baby in Pittsburgh where the baby can quickly be transferred to Children’s Hospital for evaluation and surgery.

At the last minute, we were given some hope! My husband and I felt our choice was obvious, we didn’t want to put our child through a risky, extensive surgery with a poor prognosis to correct something like a hypoplastic heart, but we couldn’t deny our child any chance at life by not choosing ANY intervention whatsoever. At the last minute, our plans changed again and we decided to deliver our baby in Pittsburgh. The strange thing was, I actually began to feel my baby move at this point, it was as if she was telling us not to give up on her yet!!!

At 38 weeks, my OB recommended a NST. As with everything during the pregnancy, it was eventful. It was about 5 p.m., Christina was at my mother’s and we were very tired. Then we received more bad news, my baby’s heart rate was dropping with movement. We had an ultrasound and found there was very little amniotic fluid. That would probably explain why I was finally beginning to feel my baby’s movement, there was little buffer between us. Our OB recommended we drive to Pittsburgh to start inducing labor that night. She was almost positive there was no way the baby would survive labor and a vaginal birth and we would most likely be facing a c-section.

At this point, my husband and I were so tired and so overwhelmed we really didn’t know what to do. We were an hour from our home, Christina was with us and we had nothing packed. If we were going to Pittsburgh then and there, we would first need to pick up our Christina, drive her home, grab our things and then drive another 2 hours to hospital. We wouldn’t make it to the hospital until much, much later that night. We then made a tough decision. We decided we would go to Pittsburgh, but not tonight. We would go first thing in the morning. We would go home, sleep a little, pack and leave early in the morning. We were just so exhausted - exhausted from the day’s events and just exhausted from the horrible roller coaster ride we had been though with the entire pregnancy. We knew even if we went to Pittsburgh that night, the actual induction probably wouldn’t begin until very late that night, or in the morning.

The next morning, we woke early and were off to the hospital by 9:00 a.m. Leaving Christina that day was one of the hardest things we ever had to do. She was only 18 months old, but she knew something was wrong. My mother–in-law was there to baby-sit and was trying to play with her to distract her a little from our leaving. Christina sat on a stool in the kitchen and started to play, but then stopped and just looked down at the counter. It was as if she knew this was IT and she was trying to be a big strong girl. It took every ounce of will power I had not to just completely break down in tears.

We arrived at the hospital about 11:00 a.m. and were put in triage. The hospital didn’t have a room for me. They started to monitor the baby and everything was still OK. We sat in triage, with the occasional doctor visit, until about 3:00 p.m. Our baby was still OK and they still hadn’t put us in a room to start the induction. Finally by 4:00, I was in an actual bed and the induction started – five hours after we arrived.

I hadn’t even started any signs of labor so the induction took quite a while. By the next morning, I was about 6 cm. My baby was tolerating labor OK, but the heart rate was dropping with some contractions. However, if I lay on my left side, the baby would do just fine. It got extremely uncomfortable, but I spent the majority of my long labor on my left side. Finally at about 8:00 a.m. the next day, I was complete and my baby was on the way. My baby was very small, so after only a couple pushes, the baby was about to be delivered. The problem was, since everyone knew my baby had a rare chromosome problem, they needed a ton of specialists to be in the room at delivery. One of the many doctors wasn’t there yet so I had to hold off my final push while we waited. It was HORRIBLE.

My daughter was born at 8:15 a.m. She was so small at 4 pounds 2 ounces, but cried right away and actually had apgars of 8 and 9! She breathed on her own, had no cleft lip or palate and seemed OK, but just looked a little different. She looked NOTHING like Christina. The doctors all examined her while they muttered to each other “is this the trisomy 17?” I wanted to jump out of my bed and grab them by the neck and say “NO, this a baby!”. I just felt that she was being treated like a rare specimen that they couldn’t wait to get a look at, rather than the sweet little baby she was.

We were only able to hold her for a few minutes before she was taken to NICU for evaluation. We were transferred to our room and waited for the cardiologist to call. A few hours later, he called with some good news. Our baby definitely did NOT have a hypoplastic heart. However, she did appear to have the coarctation as they thought. They would be transferring her to the CICU at Children’s Hospital once we were released from the hospital.

We still hadn’t named our baby. Our pregnancy was so stressful and scary that even deciding on a name was too much to think about. I had a baby name book and did look through it a little, but decided to just take it to hospital and decide after the birth. We actually didn’t even decide on a name until she was 5 days old when she finally became known as Caroline Rochelle. That was just one of the many things we did not do in preparation for our child. We didn’t have a name, we didn’t buy anything and we didn’t get a room ready. Since we already had one child, we did have a few things we could use. We thought that if we were actually going to prove all the experts wrong, and bring our baby home, we could just buy anything we needed at that time. A newborn doesn’t really need a lot during the first few weeks anyway.

Our baby girl was baptized in the NICU the day of her birth. I was completely exhausted since I hadn’t slept in a couple days but happy since, even though our baby was small and in the NICU and facing surgery, she was doing OK! She was still here; she was starting to prove the experts wrong.

A couple days later, our baby was transferred to the children’s hospital and we went home. Each day, my husband and I drove 2 hrs each way to the hospital to see our baby. It was very hard. Christina wanted us home, we wanted to be home, but we also wanted to be with our new baby too. After a few days of both of us driving back and forth, we began taking turns going to the hospital so each of us had a day home every other day. Since I am a stay-at-home mom, and my husband is a teacher and it was summer vacation, we did not need to worry about taking any time off from work. What a blessing that was!

In the CICU, the cardiologists continued to monitor Caroline as they waited for her PDA to close. The PDA (patent ductus arteriosus) is a part of the heart that is open when the baby is in utero. Upon birth, it closes. In most cases, it closes very quickly. Once it closed, they would see for sure how bad her coarctation was and they would then proceed with the surgery.

Caroline’s PDA was very large and it took a long time to close. Finally, after two weeks in the CICU, another amazing thing happened. The doctors concluded that Caroline’s coarctation did NOT need immediate surgical intervention and Caroline could go home! The doctors were in shock as they were positive she would need surgery upon birth. In fact, one cardiologist wanted to just do the surgery right away, before her PDA closed, rather than continuing to wait and evaluate her each day. Thank GOD no one listened to him!!! We were in shock and were so happy. We finally began to buy a few new baby items and started to prepare to bring our baby home.

Caroline’s health issues didn’t end once we finally were able to bring her home. She initially suffered from pulmonary hypertension and required a small amount oxygen for a few weeks. She also started vomiting tremendous amounts during every feeding and was diagnosed with severe reflux (GERD). Due to the GERD, she couldn’t get enough calories and suffered from failure to thrive. She struggled to gain weight for a few months and we finally began tube feedings. The doctors felt she was just getting too weak to even eat enough. We would feed her as much by mouth as she wanted and put the rest in a tube.

I am a huge breastfeeding advocate, but, due to Caroline’s many health issues, was never able to really work on getting her to latch on. Her first two weeks of life were in the CICU while we awaited surgery (that never even happened). She was pretty much restricted from ALL feedings and lived on IV’s. From the day she was born, I began pumping breast milk. She was bottle and tube fed 100% breast milk for her entire first year and even into part of her second. It was hard, especially during the first months, when I pumped around the clock while taking care of her and her sister. However, I truly believe that providing her breast milk greatly contributed to the reason she is still here and was able to stay as relatively healthy as she has. And, once Caroline was a few months old; I was able to pump much less often while still producing quite a surplus of milk. Pumping just became part of my daily routine.

Our life with Caroline for the first year was tough. We faced learning how to tube feed. She developed hydrocephalus, which required surgery to place a VP shunt. We continued to wrestle with the vomiting and GERD and finally agreed to surgery for a permanent feeding tube (g-tube) when she was about 5 months old. She also had a Nissen Fundoplication and was started on Prevacid that greatly improved her GERD and vomiting.

When Caroline was a few months old it was obvious she was developmentally delayed and she began receiving therapy through our local Early Intervention. She was also evaluated by an ophthalmologist who concluded that her optic nerve is small and she can only see objects up to 2 feet away. She is considered legally blind.

After the g-tube and Nissen surgery, Caroline began to do much better. She continued on with a fairly uneventful life. She is an amazing little girl. She had a tough initial few months, but made it through and has baffled the experts. She doesn’t get sick much more than any “normal” child. Many children with chromosome problems are easily susceptible to pneumonia, but Caroline hasn’t had much more than the occasional head cold.

We have learned so much from Caroline and continue to each day. When we received our initial diagnosis before she was born we were so incredibly terrified. We KNEW we couldn’t handle such a child. However, no one ever promised us that life would be easy, and no one on earth ever escapes hardship. It is a part of everyone’s life in some shape or form. We still have fun. We still go on vacations and family outings. We laugh, we play, and we appreciate life much more than we used to.

In June 2005, we welcomed our third daughter, Kallie, to our family. I refused to go through the roller coaster ride we had during my pregnancy with Caroline and I did not want to have any extensive prenatal testing. I almost refused the 20-week ultrasound, but decided to go through with it at the last minute. However, no matter what they found, I would not have an amnio. I still wouldn’t have an abortion and, during my pregnancy with Caroline, I quickly grew to HATE that I knew about her issues. I did not want to spend half of my pregnancy in misery again. We enjoyed and appreciated our healthy, third daughter’s birth so much more because of Caroline. Kallie was born on June 23, and five days later, we celebrated Caroline’s SECOND birthday!

No one thought Caroline would make it to term. No one thought she would survive birth. No one thought she would live long after birth. No one thought she could possibly make it to her first birthday. Everyone was initially sure she had a hypoplastic left heart. Everyone was sure she had a coarctation that would require immediate surgical intervention. Everyone thought she would probably be almost a vegetable and not even recognize family. Everyone was wrong.

She is still followed by a cardiologist and may someday require surgery, but at this time, her heart is working fine for her. Caroline is very developmentally delayed. She doesn’t walk, talk or sit yet at 2 years old, but she IS developing and is getting stronger every day. We still have hope that may be able to do more than anyone expected. She can sit for short times propped on her hands. She can stand up against the couch for a few minutes. She can sit propped on her hands and knees for a bit. She definitely knows who we are. She smiles, giggles, plays with and throws her toys. She loves to touch my face and smile at me while sticking out her tongue. She is not even close to being a “vegetable”.

We know Caroline will probably not grow old, we know we may have to say goodbye to her sooner than we would like. She may be with us for years, or only months, but we love her for who she is and what she has taught us. We don’t regret for one second that we continued on with our pregnancy. It breaks my heart that too many people don’t realize how rewarding having such a child can be. When you look at other disabled children you feel there is no way you could be their parent. But that child is not your child and THAT makes all the difference in the world. You feel SO MUCH more differently about a disabled child when it is your child because you love that child completely. Of course, we all want healthy “normal” children, but that doesn’t mean that a child who is not considered “normal” doesn’t deserve a chance at life too and can’t be a welcomed part of your family. Caroline is an incredibly happy little girl with an absolutely perfect little soul. She doesn’t care that she is tube fed, she doesn’t care that she is delayed, she is just happy with her life and who she is. She is truly an angel on earth. I remember one special education teacher’s comment I heard years ago. She was asked whether it was hard working with such disabled children every day. She said she doesn’t feel one bit sorry for them for “these children have a ticket straight to heaven”. How true.

Lastly, I would like to mention an email support group I found at www.trisomyonline.org. I found this group when Caroline was about 6 months old and they really saved my life. They are a group of families with children with trisomy 18, 13 or other rare disorders such as Caroline’s. Some of the trisomy children are still alive and some have since passed. The people in this group have been so incredibly helpful for any question or problem I have had regarding Caroline. No matter how strange or uncommon the question may be, there is usually someone on the list who has been there, done that and can offer some words of advice. They are people who know exactly how we feel and exactly what we are going through. They are caring and thoughtful and are just an unbelievable resource. I can’t say enough about them. I would highly recommend this group to anyone in a similar situation. I only wish I would have found them much sooner. They would have helped a lot during my pregnancy and especially soon after the birth when the majority of Caroline’s problems occurred.