Our Journey with a Rare Chromosomal Disorder

We found out on February 14, 2003 that we were expecting our second child. At our ten week appointment, the OB did an ultrasound. At this time, the baby was already measuring a week small, plus a fairly large cyst was found on my left ovary. Two days later, I had a sharp pain on my lower left and was instructed by our HMO to go to the local hospital ER. My cyst was checked first then they checked the baby and we saw a black line on the light baby. The line started about mid-skull in back and went to the bottom of the neck. The back of the baby's head appeared to be shaped like a peach indenting to the black line. They wouldn't tell me much...

In addition to sending an e-mail detailing the above, I called the doctor on Monday morning. He did the old-school "hand-patting" routine, assuring me that there was probably nothing to be concerned about. I made him promise to call the ER. He did. Two hours later, he called back asking me to come in and pick up a referral for a Level 2 ultrasound. At that point, I sent an e-mail thanking friends and family for their support and asking for their continued prayer. These friends and family were to become and remain a vital part of this pregnancy. Prayer was the Key.

Our next stop was the Level 2 Ultrasound. First, though, we were called in for genetic counseling. We were informed that this visit might indicate chromosomal problems like Down Syndrome, Turner Syndrome, or even something called Trisomy 18 or Trisomy 13. We had never even heard of those last two. Well, confirmed was "Cervical Edema" and an Amniocentesis was suggested. We made it clear that "Termination" was not an option for us. Period. Whatever the problems may or may not be, this baby was a gift from God. That being said, we did want to know what we were up against, if anything. So, the amnio was scheduled for Friday, May 2, 2003.

The doctor did an ultrasound to find the baby's position and found something called an "Omphalocele." Basically, some of this baby's intestines had been herniated into the umbilical cord. The doctor did the Amnio in short order. We were sent home with information on Omphaloceles. The papers talked about them being commonly associated with chromosomal abnormalities, especially Trisomy 13 and Trisomy 18. But, we figured our baby, at the worst, would have something like Down Syndrome, so we didn't really pay much attention to those words.

I spent most of that day in bed, just to be safe. That night, less than 12 hours after the Amnio, I experienced a gush of fluid upon walking to the kitchen. Terrified, we went to the Emergency Room. Almost three hours later, they tested and told me that it hadn't been amniotic fluid, that I had just wet myself. Laughing about it, we went home, but I stayed in bed the next day to be sure. Every time I went to the bathroom, fluid seemed to leak as soon as I sat down. My mom suggested wearing a sanitary napkin, just in case we had another leak, so we could test the fluid. Good thing she suggested it. Just about 24 hours after the first gush, we had a second one. I got my husband and son and we went to the ER again. This time, we got quicker service and they confirmed it was amniotic fluid. We were given the choice to go home or be admitted. We chose to be admitted.

Sunday I was supposed to be seen by the OB on call, as my OB was unavailable. Well, that day happened to be the biggest single day of tornadoes in our local area since 1977. She couldn't even get to the hospital, much less see me. I didn't have any leakage that day, as far as I could tell. Monday morning I was taken for an ultrasound. The technician pushed so hard that I filled a sanitary napkin with fluid. I saw the OB, Dr. M, later that day. She was tender and caring, but straight forward and told us that we had less than a 30% chance of carrying to viability, much less to term (other doctors have told us since then that they would have given us less than a 10% chance).

I stayed in the hospital two more days. Wednesday morning, before being discharged, we had another ultrasound. We had so little water that this tiny baby was literally laying on it's back on the bottom of the uterus with it's feet straight out, holding up the other side of the uterus. We have the ultrasound picture. We were told of all the things that could happen if we actually carried the baby to viability. Things like "amniotic banding" and such. We knew the only way we were ever going to survive this was through prayer. We asked everyone we knew to pray.

The following Tuesday, May 12, 2003, we got the call. Our regular OB just told us that the baby had Trisomy 18. I asked the gender and was told she was a girl. That was it. I called the practice that did the Amniocentesis. I was told they were at lunch. I relayed the fact that this was urgent and I needed to talk to someone. I got Dr. R. He told me that Trisomy 18 was "incompatible with life" and urged me to "go ahead and have a D&C." I responded that my baby was still alive. His next words have been forever etched into my very soul: "If you know she's going to die anyway, does it really matter when?" Well, yes, it does. I got off of the phone as quickly as I could and never spoke to that practice again. My husband was right there with me as I was on the phone. When I told him what the Doctor had said, he was absolutely livid. If we had been in the same room, he would have had a hard time not knocking some sense into that man.

We had chosen a girl's name while expecting our son and had planned on using it this time. Rachel, after my Grandmother. Rachel means "little lamb." After seeing her strength and resiliency, we knew this baby was not a little lamb. I got on the internet and began searching names by meaning. We were already thinking of Grace for a middle name, since we knew she was here by God's Grace. I took a list to my husband (already knowing my favorites but not prejudicing him). He and I easily agreed on one. Audrey. It means "noble; strength." It just fit. So, on Tuesday, May 12, 2003, she got her name. It is very special to us, but in a different way than Rachel would have been.

Now, our job was to do everything we could to ensure she made it to viability or term, if possible. We made our bed rest orders much stricter than the doctor. We kept me in bed probably 95% of the time. My sweet husband learned that he could cook anything that came from a box or can. I learned that when I used to wish for a month in bed, I had no idea what I was talking about!!! Our son tried his hardest to take care of his Mommy. As a precious, loving three year old, he used to bring me anything he could reach for snack time (water, cheese, yogurt, fruit). He would load up my bed with stuffed animals so I wouldn't be lonely. He learned to play quiet games with Mommy and rowdy games with Daddy.

During my time on bed rest, I got fairly good at a couple of different on-line games. I joined a couple of chat rooms. Mostly, I did research on this thing called Trisomy 18 or Edward's Syndrome. I am the kind of person who has to know all of the facts. I wanted to feel as if I had some semblance of control over this whole arena where I, in fact, had none. I joined some on line groups of parents of children with this genetic disorder. I learned more of the human side of things from them. Most of the articles I had found were written by doctors studying statistics who had little or no contact with actual T-18 cases. Our doctor, the wonderful Dr. M, told us that she had experienced only two cases of T-18 babies born alive. Both passed quickly, the longer life lasting only hours. We knew the "odds" but could only feel God telling us that even if she passed away before birth, she would have a purpose here.

So began the wait. I truly believe the waiting was the hardest part. The "not knowing" what was coming next. Would we make it to viability? Would we make it to term? Would she be still born? Would we have any time with her? How long? What difficulties were we going to face?

With each new ultrasound, they seemed to find something new. Our last ultrasound before we moved to a different state was on June 9, 2003. We knew she was small for her age; we knew she had an omphalocele. At this visit, they confirmed that my membranes had completely healed and my amniotic fluid levels were within the normal range (God is Good). They found an open neural tube defect on her tailbone, a clubbed foot and clenched fists. All of her internal organs seemed to be working well and pretty much in the right places (her heart was a little right of where it should have been, but corrected itself.) Her head was oddly shaped, another common marker for Trisomy 18. Her cerebellum was curved downward due to the pull created when the spinal fluid drained from her tailbone. It all sounded so dire.

While our son and I visited family enroute to our new home, we visited a Funeral Home and inquired about baby funerals. We got some ideas on services and markers. Not exactly what you expect to be doing when you see two pink lines on the stick test. The people at Bernhardt's Funeral Home were kind and caring and totally in awe of what we had to do. They did their best to help us with everything.

We joined my husband in our new home at the end of June. We all drove. Son and kitty with me, then Kitty with husband! We were so blessed to have my brother-in-law drive down several hours to help us for a couple of days. There was a lot of moving I didn't need to be doing in my condition at the time. About a week later, my parents-in-law came down to visit for the 4th of July weekend. They were wonderful helping and playing with our son while I rested. They went to a 4th of July Carnival. Dad helped with setting up the shed, mowing the lawn, organizing the garage. Mom tried to help with the unpacking, but I was too uptight at the time (I have since gotten over that)!

The day our guests left, we went into the local Army OB office. I walked up and told the front desk that we had a baby diagnosed with Trisomy 18, a rare genetic disorder and that we needed to schedule an appointment as soon as we could. She took my information and asked me to wait. When she came out again, she asked if we could come back in 90 minutes for an appointment. For those of you unfamiliar with the military healthcare system, this was nothing short of a miracle!

We saw two different doctors at this facility. We were essentially told that they would do nothing to help us or our baby. They would not stop premature labor. They would not do a C-Section, even if the baby was in distress. They would only consider helping me. To us, that was unacceptable, although we were to find out, it was not uncommon. We asked to be referred to the University of North Carolina at Chapel Hill. We were put in touch with a wonderful doctor there, a Maternal-Fetal specialist, who believes as we do that all life is a gift.

Dr. T listened to our story. He heard all of her problems. He heard our ideas. He suggested that, if our goal was to meet her alive, we should do a planned C-Section. He told us that even if our baby was chromosomally normal, but had an omphalocele and open neural tube defect, he would recommend this course. Besides, since Trisomy 18 babies tend to be fragile, it would be our best bet. We trusted him, so we agreed to the procedure. The date was set for October 14, 2003. It had to be changed later to the 15th, exactly one week before she was due.

We always went as a family. WE had numerous appointments over the next couple of months. Thankfully, they were usually scheduled in blocks. Several per visit. We had ultrasounds every two to three weeks. We had an appointment with a Geneticist. We saw our Maternal-Fetal Specialist every time we had an ultrasound. We met with Cardiologists, NeoNatologists, Neurosurgeons, Social Workers... so many people who wanted to help us and to try to understand this family that chose to keep a Trisomy 18 baby. We were to meet many wonderful and a few not-so-wonderful doctors. Medically, we felt we were ready.

Personally, it was a roller coaster ride. My husband and I each had different ideas on how to cope. He spent his time thinking and hoping that everything could change and we would have a different outcome than the Trisomy 18 would dictate. I quietly accepted the diagnosis. I had a peace knowing that God was in control. I knew that only He could see the outcome. I knew that He had a reason. We prayed for complete healing, as did people all over the world - too many to count. But, the fact remained that barring a miracle, our baby would be "handicapped." It was not easy to accept. Even though I had known, deep down inside, for years that I would have a specially challenged child, even though I knew God was in control, even though I had peace, it did not change the fact that I was human and very much wanted my baby girl to be healthy. If there are 700 Trisomy 18 babies born alive each year and only 50% live for more than a week, I knew the "odds" were against us. It was a sobering thought.

Two days before her birth, I had my breakdown. I just sank to the floor beside the bed in the bedroom and cried and cried. I wanted my baby to live. I knew that while she was in me, kicking and moving, that she was safer than on the outside. It was almost as if I wanted her to stay there forever. I didn't know if she would make it. I didn't want her to die. I wanted to raise a healthy baby girl. I wanted her to grow up. I wanted her to go to school, to go to her prom, to have a career, to get married. I wanted her to give us Grandkids. That is just the way things are supposed to happen. I knew that, even if God chose to have her live for years and years, the most I could really hope for was that she would attend school. I mourned the loss of a dream. I mourned my baby girl before she was born. I mourned for her, for the things she would never be able to do.

My in-laws arrived that day. They are always so great with their grandson and he loves them to pieces! Grammy brought in so many gifts from people in their hometown. I had asked for "no gifts" until we knew if she would be with us for long, since I didn't think I could handle having to deal with it all if she never came home. But, kind people want to help and everyone is clueless as to what will help (to include the expectant parents). So, we spent quite a while opening presents of blankets and booties and onesies. I couldn't help but smile and take it on faith that she would someday use the items. Some thoughtful people even sent pamering stuff for the tired Mommy!

The next day was Tuesday, 14 Oct 2003. We packed all we thought we might need. We didn't know if we were packing for two days or two weeks. That was tough. The cars thoroughly crammed, we headed out on our two hour drive to the University of North Carolina at Chapel Hill. We checked into the Homewood Suites hotel (we would come to know them very well over the next months. There are truly wonderful, kind, thoughtful people there.) After we settled into the rooms, we headed downstairs for dinner. While we were there, my Mom and Dad showed up, as did my brother and his wife and grandbaby! This was the first time my husband's and my parents had met and we had been married 8.5 years! It's actually not that unusual for military families). We had a great time chatting and getting acquainted. After dinner, we hung out a bit, then left our son with grandparents and went into the hospital for the pre-op check up. Turns out, I was beginning labor and didn't know it. I was having mild contractions a steady six minutes apart.

Wednesday morning, 15 October 2003 arrived. It was time to meet our baby girl. Not knowing whether this would be our only chance for pictures or not, I got "made up" just to be safe. We left our son with his Grammy and Grumpy and headed out to UNC. The family had no need to be there as early as we did. They would all be there by 9:00 a.m. when we were scheduled to go in for surgery.

We were in a fairly standard operating room. It was not very big. I believe we had a total of 13 or 14 people there for Audrey's entrance. One of our most immediate concerns was the size of her lungs. They seemed small, but Dr. T would not discount the fact that they might sustain her. Dr. T cut me open, pulled her out, and she screamed and cried immediately. It was the most beautiful sound I had ever heard! He held her over the screen that blocked my view from what he was doing down there and I saw her precious, red, squalling, goopy face. She was tiny (5 lbs 0.3 oz, 16 long; 2277 grams, 40.64 cm) with tiny chubby cheeks!

She was handed over to the NICU team standing by. They rubbed her down, wrapped her omphalocele, did a quick "systems check," and handed her to her Daddy. He looked at her so tenderly and spoke to her in his little "welcome to the world" voice. They offered to let me hold her, but I was genuinely afraid I might not be able to maintain a good grip because of the anesthesia, so I declined. I would have been devastated if that had been my only chance. Thank God He gave me many more chances.

As we had agreed, our son was the first person to meet her. He wasn't sure what to make of her. She had wires coming from her (monitoring her heart rate, breath rate, and oxygen levels)! He was assured it was OK to touch her, but still was hesitant. By the next day, he held her without reservation. Each Grandma and Grandpa and both Aunts and Uncles got to meet her. The Grandmas got to hold her. By being able to schedule her arrival (due to medical necessity), everyone was able to be there and meet her. I still cry good tears when I think of all of the love and support that precious baby got. None of us knew if she would even survive the night.

In preparation for the inevitable, we asked and were granted the support of the Chaplains. A wonderful lady conducted Audrey's Blessing Service at 6 pm on 15 October. She even sang a beautiful song in Hebrew for our baby girl. The NICU made special arrangements: since Audrey was not in the open bay area, but in her own room, the whole family was able to be there for her service. She watched us the whole time - with the same beautiful blue-gray eyes her daddy has. She must have wondered what we were up to and why there were so many people around her. That was the only time we were all together with her.

My husband and I got up every two hours that night and made our way from the Maternity ward to the NICU (none too easy after a C-Section). We scrubbed and went in to see her. We were so afraid of losing her, but we knew that was always a possibility and were so thankful to God for the time He had already allowed and for the outpouring of love we were experiencing. The NICU doctor didn't seem very positive about Audrey's prognosis. She stated flatly that "most of these babies don't live more than 48 hours. The next morning, she was still with us. We took the next day in the same manner: a couple of hours at a time.

Everyone at UNC was so kind to us and so adoring of Audrey. They knew from experience that many NICU babies do not make it home. That was our first goal, if she lived very long. We wanted to take her home. But we had to make sure she would be with us before we made any plans of that sort. We took it a couple of hours at a time. Our little man had fun with all of the family around. It was such a blessing to have them there to care for him while we concentrated on Audrey.

My brother's family had to leave on Thursday, my brother-in-laws's family on Friday. My parents left on Saturday. Grammy and Grumpy were planning on staying a week or so, but received word on 16 October that Grumpy's Mom had gone on to Heaven. Being her oldest child, he really needed to get back home to help with things. They left on Saturday, too. My poor husband was so torn. He knew he needed to be there for his daughter; that was never in question, but his heart wanted also to be there for his extended family as they grieved the passing of the woman who had held them all together for so long. Gram's passing and Audrey's arrival so close together really brought home the cycle of life. We all come the same way and someday we must each leave this life. We each have a limited number of days. But, it is true that every life, no matter how brief, impacts the world.

Our baby girl lived almost seven months. At a week old, she underwent six hours of neurosurgery to correct her open neural tube defect. A week later, we took her home. She required supplemental oxygen and a feeding tube, as many Trisomy 18 babies cannot coordinate the "suck, swallow, breathe" reflex. At 29 days old, she went code blue and had to be "life flighted" to UNC. She had RSV and had to be on a ventilator. We were told she would never come off of it. She did. She had five good months at home with us. We spent Christmas together as a family. On Easter, she was diagnosed with double pneumonia. She was again taken to UNC and again was placed on a ventilator. She came off of it, but was back a few days later with a raging temperature. In hindsight, we know that her hypothalamus was failing. Her body could no longer regulate her involuntary systems. It was time to let her go. We tried to make her comfortable. We cuddled her. She quietly slipped from our presence to the very presence of God.

I held it together for the two weeks before we had her "Celebration of Life" service. I conducted most of the service. It actually took me a good three months before I had my first really big cry. It probably took me eighteen months to come out the other side of grief to acceptance. My husband is still working on it. My son is beginning to forget specifics of his time with her. It is hard. But time does lessen the pain. I will forever be a "recovering bereaved parent." Life does go on. I will never be the same again. But I can laugh again. I can love again. I can smile when I think of her. I can share her story in hopes of helping someone else. Maybe it's you.