In the Beginning


We weren’t exactly planning on having a fourth child, but as fate would have it, we found out on Independence Day, 2004, baby #4 was on the way! Waiting for the test results, I was kicking myself for my lapse in judgement, but as soon as that little line appeared, my attitude changed to excitement as I realized we’d have another baby to love.

We saw the OB at around 10 weeks, as usual. She showed us the chart on age and risks of Down syndrome. I had always known that the risks went up with age, and that 35 was some magic number. My last child had been born under the wire, but I knew that after 35 a pregnant woman sees a perionatologist and is offered an amniocentesis. I didn’t realize the drastic increase in risk for Down syndrome each year a woman’s age increases. Because I would be 37 when the baby was born, my baby had a risk of 1 in 195 of being born with Down syndrome. The risks went up greatly every year after that.

At around 12 weeks, we met with a genetic counselor in the perionatologist’s office. She asked about medical conditions in our families. She talked about the variety of tests available to check the baby, including the quad screen, the integrated test, fragile X testing, CVS, and the amniocentesis. She showed us the same chart Dr. D. had shown us, and sent us on our way with some paperwork.

We went down the hall to get a level I ultrasound and meet with the perionatologist. Everything looked fine on the ultrasound. It was amazing to see that this early ultrasound didn’t look that much different than the 20 week ultrasounds I had gotten with the other babies. It’s always a strange thing to see the baby moving around energetically on the screen when you can’t feel anything yet. Of course, we received our very first baby pictures, with “Hi Mom & Dad!” written on the screen by the technician. The kids thought it was neat to see their new baby on TV.

Somewhere around 14 weeks, I saw Dr. R., one of the doctors in the OB practice. She had delivered my first child, and I considered her my primary OB. She is a friendly person, a marathon runner, a mom, and a woman possessed of the most amazing memory. We had a regular appointment, listened to the baby’s heartbeat, and chatted about family. I had recently watched the birth video of my new niece, delivered by Dr. R., and heard her tell my sister that she would love to have her kids see a live birth, but how could she possibly ask a patient. I told her they were welcome at this birth. After all, I am devoid of modesty, and I’m all for educating the future doctors of America. She said they would love it. At the end of the appointment, she gave me the slip for the quad screen blood work.

I went over to the lab, and I remember giggling when I saw them write “advanced maternal age” on the forms. It was so weird to think that technically I was labeled this way, despite my obvious youth (well, obvious to me anyway). They were also testing for fragile X, even though I didn’t really know that much about it.


The Diagnosis


After a week or so, Dr. R. called to say that my quad screen had shown a slightly elevated risk for Down syndrome. The risk had increased to 1 in 173 (from a 1 in 195 risk due to age). She wanted to move up my level II ultrasound and scheduled an amnio with the perinatologist. I told her I wasn't going to do the amnio because I would never terminate but she left it scheduled just in case I changed my mind. I didn't think it was a big deal but my husband was very nervous. During the ultrasound, the tech said several times she was having difficulty getting a good look at the heart. There were no other Down syndrome markers. The perinatologist came in and said he too was having difficulty getting a good look at the heart and had a suspicion of a heart defect. I was referred to a cardiologist, but told not to be alarmed because most of the time everything is OK.

I still did not want the amnio, but I did question him vigorously about the stats for miscarriage. I was still inclined to turn down the amnio due to the risk, but he told me that there are more complications in pregnancies and births when there is Down syndrome, and that we would receive more attention & monitoring. I agreed to do it, but told my husband everything was fine -- I just knew it.

On Monday, October 25, 2004, I was at home. My seven year old and four year old were was at school. My two year old had just fallen asleep. My OB called: "I have some bad news, but it's not the worst. The baby has Down syndrome." My memory is blank on some details after that, but she offered to call my husband. I said no. She also advised me that I still had time for an abortion. "We would never do that." I was choked up. "I'll be fine when I see you on Thursday."

I was devastated. My mind felt like a trapped rat scrambling for a way out of the maze. I pulled up the thought of abortion. Religion? Shelve that thought Ethics? Put that thought aside. Physically? Could I physically feel a baby kick then terminate? No. It was a physical impossibility, so I didn't have to give it even one more thought. That took 30 seconds of pure logic before the grief set in. After an hour I wasn’t sure if the doctor had actually called me. I almost called her office to ask.

Why was I so upset? Part of it was simply ignorance. I had known people with Down syndrome, and never felt sorry for their families. They were happy families and I never thought of their kids as burdens, but I guess I never thought of it on such a personal level before. Also, those kids were older or younger than I was, and they were merely in the background of my life, like any other neighborhood kid. Since then, I have heard many parents say, “If I had known then what I know now, I would not have been so sad.” I think that is true. But I can’t say that my mind was filled with negative images or thoughts. There wasn’t much thought going on. It was just sadness. There was also another thing bothering me: my baby failed. When I had my first doctor's appointment, she sat down with us to discuss my age, and the risk of DOWN SYNDROME. I took the AFP test to check for DOWN SYNDROME and other things. The amnio was done to check about DOWN SYNDROME. By the time I found out, Down syndrome was the "failure" part of the test. I wasn't necessarily picturing anything concrete, just a big "failure." And also, lurking around in the confusion of my brain was the idea that I was now undesirable as a mate. Now, my husband wasn’t going to leave me, and I really cared very little about being attractive, but this was a strange, primitive feeling. My eggs were old. I was not worthy of being a mate. These were some very strange offshoots of poor grief.

I called my husband and could barely get out the words. I called my parents, who came over immediately. My dad picked up my daughter and niece at pre-K. I called my mother-in-law and some close friends. I called the perinatologist and left a voicemail saying that I already learned the results of the amnio, so they did not have to call me. I thought there was no need to put them through that discomfort. The head of the perinatologist’s office called anyway that afternoon(I had not seen this doctor before). He made sure I knew I could have an abortion. When he was clear on my answer, he went on to discuss the pregnancy. Later, the genetic counselor called and made sure we knew we could get an abortion. My mom called my eight siblings. My sister-in-law called my husband’s five siblings. It was a rough night.

The next morning, we had an appointment with the cardiologist. I cried through the very long echocardiogram, but my husband was holding it together The doctor explained that the baby had an AVSD, also called an AV canal defect, which is a hole in the heart between the two upper chambers and also between the two lower chambers.. The valves, normally attached to the heart tissue where the hole was, were simply flapping. The oxygen rich blood and the “bad” blood were mixing. The baby was fine in utero, but once born the heart and lungs would be under strain. The baby would be OK for a few weeks, but would become tired 2 to 4 weeks of age, have difficulty eating, and may have breathing problems. (She gave a much better explanation.) The doctor said the baby must have surgery in the first year of life, ideally at 6 months of age. The baby would be put on medication when he or she started to show symptoms, and the response to those meds would dictate the timing of the surgery. The doctor talked about the success rate of the operation and the fact that they have done this thousands of times. .We went into the hall, and I stopped at the bathroom. Once alone in the bathroom, I started crying again, which was quite obvious to anyone who saw me. I cried on the way home.

I was also trying to bat away a thought that kept coming to the surface: what if my husband wanted to abort? He was pro-choice while I was pro-life, and he had been silent when I told the doctors I would not abort. Since there was no way I was going to terminate, I couldn’t say anything to him. Suppose he said something that he would regret years later when he looked into his child’s eyes? So I ignored what I thought was the elephant in the room. On the way home from the cardiologist’s office, my husband turned on the public radio station. There were two evangelical ministers debating the finer points of politics and abortion. The entire ride home.

When we came home, there was a message from the perinatolgist (the one I had met before, not the one who had already called). I called back and left a message that I was home, but that I had talked to my OB, the other perionatlogist, the genetic counselor, and the cardiologist, so I was OK. He called back anyway, and made sure I knew I could have an abortion. I was starting to feel like I had the word “expendable” stitched across my maternity shirt. When he was clear about my answer, he went on to discuss the pregnancy plan.

That night at dinner, my husband told the kids I started to cry but tried to pull it together. We told the girls that the baby had something called Down syndrome, which meant that she would do things slower than other kids, like start to walk later, and talk later, and maybe go to a special school or a special class (we knew nothing about inclusion). The kids kept interrupting with all kinds of crazy questions. When we said the baby would have to have surgery, our second child asked, “Can I watch?” Kids are amazing, and I found myself laughing a little.

My husband said it was a good thing this baby had come to us. He started naming other people: “Could you imagine if it were so and so?” When he named a certain friend, I said she would have aborted. To my immense relief, he remarked how selfish that was. I didn’t care that he was calling my friend selfish, or that he may have judging her. I only knew that I had my answer about how he felt! He didn’t want an abortion, and we didn’t even have to talk about it. Communication in a marriage is pretty overrated anyway.

The Pendulum

The next morning I woke up feeling better. “Everything is going to be OK,” I told my husband. And I knew it was. I could picture in my mind’s eye my future adorable three-year-old child, and had the sensation of being comforted by my future self. I started to tell friends the news with more optimism. I was getting used to the new situation. My best friends since high school delivered informative books. One of them spent hours researching and presented me with a list of websites, resources, and local contacts. One of my sisters brought books. My husband’s sister had a “sleep over” for the whole family to take our minds off things. We went out to dinner with the parents of one of those neighborhood kids who had Down syndrome. We visited a family whose house was close enough for us to walk. My kids couldn’t figure out which child in that family had Down syndrome. Eventually, I found a good friend among the moms, and my second child still loves to go over her house and have playdates. I started to research. And as I gained more knowledge, I felt more in control. I threw away the outdated idea I had of Down syndrome and reeducated myself on what it really is. I learned that early intervention and inclusion were bringing kids into the mainstream more than ever before, and that people with Down syndrome were more and more frequently becoming active community members. Moms reported how well their kids did after heart surgery. The vague feeling that “everything would be OK” turned into certainty based on the facts.

The journey from grief to acceptance and then to joy didn’t follow a straight path. While I found myself accepting our baby’s extra chromosome and heart condition on an intellectual level very early on, I found that hormones, unrelated stress, and interaction with other people contributed to an emotional roller coaster ride which didn’t really end until the baby was born. For example, shortly after learning the baby's diagnosis, I was approached by a kind and spiritual woman who offered to pray over my baby to have God take the Down syndrome away. I must say, I behaved badly, not being prepared for this particular offer and having the sting of my newfound knowledge still painful. I told her my child definitely had Down syndrome, and that I was tired of her being treated as expendable or defective. I was quite mean to this nice woman who had only good intentions, and I did later apologize. What I did not do is explain why her offer made me so upset, and I’m not sure I even knew it at the time. I lumped her offer in with those repetitive offers for abortion because I felt like I was climbing a mountain ("Mount Acceptance") and nice, well-meaning people kept telling me there was a quick way off the mountain just below me. I just wanted to scream, "You're not helping!" It was also a reminder that most people would view my child as someone who needed to be fixed, as imperfect. Yes, there was a hole in her heart, and that needed to be fixed. But her extra chromosome was in every single cell in her body – as much a part of her as being half Italian, or being a girl. How could you pray that away?

Approximately two weeks after our diagnosis, I was over the bad part of the grief but still a little shaky. I was doing dishes when I started to cry. I ducked into the living room so the kids wouldn't see. I was crying and feeling sorry for myself (even though I knew everything would be ok) when the baby started kicking really strongly. I called in my oldest daughter. She put her hand on my belly and could feel the baby kick for the first time (up until then only I could feel her). My husband heard our laughter and came in. When he saw my laughing, tear-stained face he asked what was wrong. I said, "I was feeling sorry for myself but then the baby kicked my butt." The other girls came in and all felt the baby kick. What was one of the saddest moments of my life became one of the best.

The first time we visited Dr. R’s office after the diagnosis, she did mention “abortion” in passing, which now had the power to hurt, but it was no longer being presented as an option. She told us the baby was a girl, which was great since after having three girls I wouldn’t know what to do with a boy (with all that outdoor plumbing!). She said her kids would still like to attend the birth, and that she would deliver the baby whether she was on duty or not. She gave me a couple of phone numbers of patients who had kids with Down syndrome. I had almost all of my appointments with Dr. R. from that point forward, and she became a great comfort to me. Our appointments were always upbeat and warm. I felt really lucky to have her.

Life went on, and there was laughter, friends, family, holidays - normal things. We had a round table discussion with the girls about naming the baby. They thought up all sorts of crazy names, including “Penis,” a word my second child had heard the week before when she asked me what “that” was while I was changing my nephew’s diaper. Oh, our second child was full of surprises. We were on vacation a few weeks after “the diagnosis.” At the pool, our second child excitedly told me she saw someone with Down syndrome, and it was a kid! She was so enthusiastic! She pulled me over to a child who, it turns out, was Asian. We had explained that kids with Down syndrome usually had differently shaped eyes, and I guess it was going to take a little more explaining.

My brother started to call the baby “the great conversation stopper.” He was at a real estate closing with six people, including a mutual acquaintance I had not seen in awhile. She told my brother she was a special education teacher, so my brother, completely upbeat, said, “Hey, you know, my sister’s having a baby with Down syndrome.” His jovial announcement was met with complete silence, a silence that grew longer and longer as he realized they were not receiving the information in the spirit he delivered it. As the silence grew, he could not think of one word to say, and the redness started to creep up his face up to his hairline. Finally, someone else walked in and broke the silence. Of course, when he told me this I thought it was the funniest thing I’d ever heard, even though it probably should have been a sad thing. Since then, he’s actually stopped conversations in the same way quite a few times. Maybe it’s his delivery.

People can be so wonderful. They were coming out of the woodwork to lend a helping hand. My friends from high school had a little get-together with presents for the baby. My next-door neighbor orchestrated a surprise baby shower with all of the neighborhood women. It was a “mommy and me” theme, with gifts for me as well as the baby (how nice!). I talked to lots of moms on the phone who had kids with Down syndrome, and had several playdates with a mom who wound up being the biggest help to me. My kids loved playing with her little girl, and I was able to get a lot of insight from this mom.

I told my new friend I had not met any women with a prenatal diagnosis except one through e-mail. I had read in a book that 90% of women with a confirmed diagnosis had terminated their pregnancies. I was blown away by this number. How could that percentage be so high? I was starting to feel very isolated. I was also starting to wonder about the day-to-day issues I would face when my newborn came home. My new friend sent me links to posts on discussion boards by a mom with a prenatal diagnosis, and a dad who was expecting his child with Down syndrome and an AV canal defect and wondered about the newborn stage. This opened up a whole new world for me. It was great! The NADS (National Association for Down syndrome) discussion board welcomed me with open arms, and answered so many questions before and after my baby’s birth. They were all so in love with their kids, proud of their accomplishments and hopeful for their future. There were parents who had teenaged children, parents with grown children, siblings of people with Down syndrome, and grandparents. There was even an adult with Down syndrome who had been posting for years on NADS. I was able to vent, explore issues, see pictures, and learn about opportunities. Most of all, I was able to see the future as a bright place. The Baby Center Down Syndrome Board was also a great support.

Armed with support and information, we rode a high of optimism for months. However, as pendulums do, this one swung once more towards the bleak end before the baby was born. I was scheduled to be induced on Tuesday, March 1, 2005. It was going to snow. Our child-care plans fell apart due to illness. We tried to make other arrangements. My parents were in Florida. My sisters all had jobs. My husband’s siblings all worked. My mother-in-law cared for two of her grandchildren, one of whom was sick. I started to panic, and cry, and became very upset. How could we have thirteen siblings between us and not have a support system? This was never going to work out. We were fools to think we could handle this. Out of desperation, I called one sister who worked shift work, who had a baby girl. I thought for sure she would say no because of her baby, but she enthusiastically agreed to come over the night before the delivery so that we could leave. My savior! With one phone call, the pendulum swung back, and there it remained.

The night before we left for the hospital, I spent hours making information lists and allergy-safe foods. I called my next-door neighbor, who was a labor and delivery nurse at the local hospital, and was happy to find out that Daisy, one of my favorite nurses, was on duty. I had already given my OB specific instructions: I did not want whispers, looks, or walking on egg shells – people should just talk about everything openly. I had prepared friends and family – I wanted nothing that even faintly resembled a sympathy card (even the "I'm praying for you" cards), only congratulatory cards. Mentally, I checked over my “to do” list – we were ready.

The Joyous Birth of Miss Gabriella

We overslept. We ran around gathering things, dressing, and getting ready to leave. There were several inches of snow on the ground, so my husband had to shovel. I videotaped the short trip to the hospital. It was early morning on a snowy day, so there weren’t that many people driving around. There was no wind, so the snow coated the branches, making them look like hundreds of little white branches reaching up to the sky. It was very serene.

Dr. R. arrived with her older son Alex, whose classes had been cancelled for the day. Her younger son had to go to school. Alex was trying to decide whether to go pre-law or pre-med. (Having unhappily practiced law, I advised him to go pre-med.)

While we were waiting, my husband brought up the issue of her name. We had originally narrowed the list down to one name, Isabella Rose. At the great annoyance of our oldest child, my husband had refused to officially commit to the name. She kept bugging him until he finally said, “I’m not like you and your mother – I can’t decide after five minutes.” Exasperated, she told him, “Daddy, it’s been hours!” Months later, he still refused to commit, and she told him, “Daddy, it’s been three months already!” After months of waiting for him to give the official seal of approval on Isabella Rose, my husband said he thought he liked Gabriella instead, the name my Grandmother had suggested after the angel Gabriel. He gave a quick call to our oldest child and we left the decision to her. She decided on Gabriella. My husband left the decision of the middle name up to me. I picked Louise, after his father, Louis. Gabriella Louise. It was a name with some power in it, meaning “God is my strength” and “warrior.”

Epidural in place, we painlessly and blissfully awaited the arrival of our daughter. A warm and jovial collection of medical people waited with us, prepared for a higher risk of complications.

At 3:35 p.m., on Tuesday, March 1, 2005, Miss Gabriella Louise was born with a lusty cry, weighing in at 5 pounds, 6 ounces, and measuring 18 ¾ inches. My husband cut the cord. Would she be Italian or Irish? We couldn’t tell – she was just beautiful. They placed her on my chest, all messy, and my husband and I caressed her, talked to her, and kissed her. They cleaned her up, and checked her out. Despite the team of nurses, she was just fine and in no need of medical intervention. Her APGAR scores were great. They gave her back to me. She was so cute. We took pictures right away, including ones of Daisy and Dr. R’s son.

We were happy to see the baby. She wasn’t a collection of chromosomes, or a list of potential illnesses, or a diagnosis. She was a cute, adorable baby who melted our hearts. She looked a lot like our second child, who was quite proud of the resemblance. My husband brought the girls up, and they were so excited. They fought over holding her and taking pictures. My husband’s parents visited, brought fruit for me (which they’ve done for every birth), and fawned over the baby. My parents were in Florida, but they called and were excited. Their friends at the condo unit were all waiting for the news, as well as my Grandmother, her sister and brother-in-law, all down there in Florida. Most of my siblings visited, and a couple of my friends. They brought flowers, candy, presents – your typical birth experience. My sister-in-law, Gabriella’s soon-to-be godmother, visited. She’d been getting more and more excited as her birth approached, and was quite delighted upon seeing her niece.

The first few weeks at home were a little tough. I was pumping every three hours around the clock and trying to feed her a bottle. Nighttime was particularly difficult. After assembling the pump, pumping for ten minutes, changing the baby’s diaper, trying to feed her for 45 minutes, burping her, then cleaning all of the pump and bottle parts, I had time for a brief period of sleep before it would start all over again. I had never experienced this much steady sleep deprivation before. Still, holding Gabriella was just so reassuring. She was here! She was a person, a real, live, breathing person, not a diagnosis or a defect.

Time passed, and Gabriella thrived. She gained weight more slowly than other babies, but she did gain. At 8 weeks of age, she started to breastfeed, and eventually nursed full-time. However, after a switch to breastfeeding, a short bout with bronchitis, and a thyroid issue (ironically unrelated to the Down syndrome), Gabriella’s weight gain tapered off. By the time of her surgery at 5 months of age, she weighed only 9 1/2 pounds. At that age, she was sleeping through the night in a very deep sleep, and staying up most of the day except for cat naps (what happened to the “sleep all day” baby they promised me?). She would nurse well, but not once she “passed out” for the night. She was very active, meeting most of the usual developmental milestones, including rolling over both ways by 4 ½ months. She was “baby talking,” smiling, laughing, and fascinated by strangers. We’d been pretty much home since her birth, venturing out with her only to doctor’s appointments.

We had thought the baby would have more symptoms, like excessive sleeping, sweating while eating, labored breathing, turning blue, weight loss, lots of illnesses. Except for trouble gaining weight, she remained asymptomatic. As the time for surgery drew closer, I was so nervous that she would get sick and we’d lose our surgery date. It was scheduled with the famous Dr. Spray, who was going on a working trip for a few months shortly after our scheduled date. If we missed our date, we wouldn’t be able to have Dr. Spray. Thankfully, she stayed healthy and we were on target for surgery.

The Surgery

Gabriella had her surgery on Monday, August 1, 2005. Having done a lot of research, I wasn't too nervous, but my nonchalance was a bit ruffled when they actually came to take her. My husband and I wanted to grab her and run! The surgery was fairly quick, lasting only a little over two hours, with a bit more time for preparation and anesthesia.

We were fine waiting, but the first time seeing her was a bit unsettling. I had expected tubes, but there were so many! They came out over time, one by one, and she was "free" enough to breastfeed that night around 10 p.m. The next day, so she eating like a champ, and more tubes were being removed. She was still on a little morphine, and slept a lot.

At this point, she was in the CICU. Most of the babies were newborns, and I didn't meet any parents who said their kids had Down syndrome Each time I met other parents, I asked them about their stories. It was interesting how many times they said their children were "healthy" except for the heart thing. Yet the ones I met all had newborns in the CICU, some undergoing surgery much riskier than Gabriella's surgery, all with the correct number of chromosomes lined up. Yet I also considered my comparatively huge child "healthy" too. I guess the meaning of that word shifts according to your perspective.

Gabriella was discharged three days after her surgery! She looked great. I keep thinking of my fear when we heard the prenatal diagnosis of a heart defect. I worried SO MUCH. Talking to "heart moms" on the Down syndrome support boards helped to calm my worries so much, and I was very calm going in to the surgery, but I still did not expect it to be so very - oh what is the word? I think maybe "pleasantly anticlimactic" is the appropriate phrase here. The prenatal fear was grossly out of proportion to the reality. Still, I was very glad it was over so that I could enjoy my healthy baby. She was eating so much I pictured her huge by Christmas!

It’s been two weeks since the surgery, and what can I say about my Gabriella? She’s eating constantly both during the day and at night. She’s gained a pound already! She smiles a lot, big open-mouthed grins which involve her whole body. If I dive my face into the crook of her neck, she laughs out loud. If a stranger comes into the house, she gets very still, in “observation” mode. She thinks I am utterly fascinating. She loves to stare at her sisters, especially our second child. She’s constantly moving her arms and her very flexible legs. When I hear her stirring, I go to her bassinet and there she is, laughing in greeting, with her legs spread-eagle, and each foot playing with the fringe on opposite sides of the bassinet. Just like the other girls, she loves for me to carry her around all day.


Lessons Learned

I’ve had a long time to think about having a child with Down syndrome. The grief I felt in October, 10 months ago, was so real and so deep, but I can’t make myself feel it. I haven’t shed a tear about her diagnosis since she was born. I remember that I wished I could blink myself forward in time to Christmas, when surgery would be behind us, but I realize now that if that happened I would have missed the wonderful time we’ve had with her these past 5 months. Sometimes I worry a little about the future, but not very much. I know she could possibly be a low-functioning adult one day, and that’s fine. I’ve seen that future and we’ll still be happy and optimistic. However, medical treatments and services available today are expanding the potential of people with Down syndrome. Thirty years ago, Gabriella would have been profoundly mentally retarded due to the hypothyroidism. Today, routine newborn screening caught it and the effects have been negated. Thirty years ago, Gabriella’s heart defect would have caused her to become very sick, affecting her health to an extent that her cognitive development would have been impaired, and would likely have resulted in an early death. Today, the defect has been repaired, allowing her to lead a longer, healthy life. Yes, my Gabriella’s future is brighter, and I will not underestimate her, but regardless of her potential, she has and will bring so much joy to our lives.

Back in October, I had the sensation of my future self comforting me, and giving me a glimpse of a hopeful future. Today, I picture myself sending that hope back in time. And I try, through the contact I have with women whose children have been diagnosed, both before and after birth, to give them a glimpse of a future of hope, beyond the temporary grief. After all, my baby is not a diagnosis, not a list of her potential woes. She is a beautiful person, full of laughter and grins, with a world of possibilities laid out before her. I can’t wait to explore those possibilities with her.