Myriad Genetics Blog A Mother Wanting Better for the Next Generation A Mother Wanting Better for the Next Generation May 9, 2013 Patients I grew up in what you might euphemistically call a “broken home.” My father, emotionally and physically hurt in WWII, had turned to alcohol. He had a difficult time holding down a job, meaning my mother, two older brothers and I, the kid sister, uprooted ourselves on annual moves until my parents divorced when I was in elementary school. This made our family life calmer, but money was tight. We scraped by, but only due to my mother’s sheer determination. After a tumultuous childhood, I wanted nothing more than what most parents want: to create a safe, stable and loving home for my own children. As an adult, I made it my goal to have a life of ‘ones’ for my children. One school. One home. One father. Adding to the challenges of childhood was that I was born without my right arm, below the elbow. While there have been physical challenges along the way, the more difficult ones for me were the emotional ones of so easily being identified by other kids as different and odd. I always knew that if I were to become pregnant, I would do everything in my power to give my baby the most healthy start possible. In my mid-twenties, I was well on my way to accomplishing this goal. I’d finished college, started a career, and found Stuart, a man with the most stable profession in existence: tenured University professor. I didn’t smoke, kept a healthy weight, and exercised regularly. Soon, Stuart and I had saved up for a small rambler nestled in a safe Minneapolis neighborhood. The two-bedroom home had one master bedroom and another in which we soon set up a crib and covered the walls in flowered wallpaper. Every parent prepares for their baby in their own ways. I’ll always remember that summer of ’82 when my husband was frantic to get the kitchen ceiling painted before the baby came, as if no self-respecting parent would raise a child in a home without a fresh coat of paint on the kitchen ceiling. I was very concerned about protecting the baby growing inside me from anything that might harm them. After visiting the doctor to confirm I was pregnant, I stopped by Target to pick up covers for the electrical sockets and promptly installed them. That’s right, my child barely had a heartbeat and I was babyproofing the house. You can never be too safe. For the entire pregnancy, I ate right, didn’t touch alcohol and did everything the doctors asked of me – including drinking the full 72 ounces of water before my ultrasound and letting them draw endless blood for tests despite my phobia of needles. My OB was a delightful, emotional Italian who hugged patients and expectant fathers alike. He was well aware of our concerns for a healthy baby and shared with us the reassuring ultrasound news that our baby had, as is the classic refrain of many new parents, “all ten fingers and toes.” The pregnancy went well, except for the hot and humid summer days when, in our air condition-less home, and 8 1/2 months pregnant, my only refuge was a bathtub of cold water. When I went into labor on August 14th, just two weeks shy of my due date I was prepared. My pajamas were packed, I had a pillow ready to bring with me to the hospital, and the kitchen ceiling had been re-painted. I worked at a clinic down the street from the hospital and drove myself. I remember the labor being fairly routine. Although, being my first child, I didn’t really know what to expect beyond a lot of practiced breathing and pushing. When baby girl Martini arrived, the OB delivered her and Stuart cut the umbilical cord. But something wasn’t quite right. The baby was small — only five pounds. Were we sure of the dates? Yes, we were sure she was nearly full term. She was breathing, and cried, and I got to hold her on my chest for a few minutes. But the OB was uneasy and wanted her checked out in the nursery. The resident took her away and Stu and I waited in the delivery room together, as I was being sewn up. A while later, the resident reappeared outside the room and, through the window, gave us the thumbs up. To this day, I wonder why he gave us the thumbs up when something was clearly very wrong. Stuart and I were taken to a recovery room. Just the two of us. No baby. And we waited. And waited some more. The doctors wanted to do more checking. And it was night time. And dark. And we waited some more. The pediatrician on call at the hospital that night was Dr. Sally Callwell. We didn’t know it at the time, but she was fresh from being head resident at the highly respected University of Minnesota Medical School’s Pediatric Program. She was brilliant and, thankfully, compassionate. She came into our darkened room. With news. Our baby, now named Sarah, had several characteristics that were of concern. Broad thumbs and broad toes. Her small size. What sounded like a heart murmur (she would later need open heart surgery at 6 months of age to repair a seriously malformed heart). She had consulted the medical library, and told us “I believe she has Rubinstein Taybi Syndrome.” She went on to itemize other characteristics described in the literature – significant mental retardation, short stature, heart issues, and language problems. Our baby. How could that be? It all felt terribly wrong. In this moment, with these words, our lives felt shattered. We told her “We hope you are wrong.” Dr. Colwell looked at us and quietly responded “I hope I am wrong, too.” We later found out it was the first time she had ever given a diagnosis like this to parents. However, this brilliant doctor had precisely diagnosed this rare condition, as confirmed the next day by a consulting expert. The following months were filled with feeding Sarah round-the-clock as we helped her gain weight for the open heart surgery that would be required to help her survive into infancy. Sarah had little suck reflex, and every ounce of pumped breast milk we got down was a celebration, compulsively tracked in spreadsheets we created. The cardiologist determined she would need extensive, life-saving surgery in not too many months. The immediate goal was to feed her as much as we could, to build up her weight to help her survive the upcoming surgery, but not to wait so long her body outgrew her heart’s ability to sustain it. Those months were a roller coaster of nurturing, waiting and watching. With so much energy spent on the baby, there was little time for Stuart and me to focus on our relationship. We were exhausted and heartbroken. I realized how fragile my dream of a stable home for my children truly was. Sarah survived this surgery, and many that followed. A couple of years passed, and it was time for us to consider whether we felt brave enough to risk trying to bring another baby into our lives. We desperately wanted another child, but knew our relationship would likely not survive another baby with as many health needs as Sarah. We were told it was extremely unlikely a second child would have Sarah’s genetic disorder, since it was a dominant, random mutation. After much soul-searching, and with the support of family and close friends, we took a leap. The first time around, we’d been eager and excited as most first-time parents are. This time, a cloud of worry hung over our heads. When you’ve had an “adverse outcome” with a pregnancy, you become a fundamentally different couple– stronger, perhaps, but certainly more wary. A psychologist friend of ours calls parents who have had experiences like ours: “A different breed of cat.” A local hospital even had a special birthing class for couples like us, who wanted to prepare for a second birth but for whom there was an element of mourning connected with a previous birth. Many parents spend time debating whether they want a boy or a girl, or obsess over names. All we wanted was a baby who was healthy and a marriage that could survive the trials of a new addition. Back in the mid ’80s there weren’t many tests you could perform to know whether your baby might have health problems, but Stuart and I chose to do everything available to us, including ultrasounds and amniocentesis. With one child with extensive special needs already in our lives, we would do anything to protect our young family from another, knowing that it may rip our marriage further apart. If the Counsyl test had been available back then, we would have done it in a heartbeat. I am grateful that this generation of parents, like our second daughter and her husband, has this information available to them if they want it. After nine long months, I went into labor again. After a labor that felt like days (although my husband confirms it was less than twenty hours) the only outcome I wasn’t expecting was to have my baby delivered, cleaned up and handed back to me, to nurse in the privacy of a hospital recovery room. No monitors or doctors, just mom, dad and baby. Our OB, who knew the family history, called for a pediatrician to check her out in the recovery room: “Just because.” When he held her up in the air and she filled the room with an objecting cry, we were alarmed. He reassured us — “A lusty cry is music to a pediatrician’s ears.” After he left, our newborn baby energetically nursed at one breast, then the other, I burped her, and she calmly fell asleep in my arms. Just like that. So easy. When Sarah was born with health problems, it tempered our ability to celebrate that birth. The happiness over our new arrival was overshadowed by our concerns for her survival and the recognition of significant challenges ahead. The second time around was very different: Laura arrived on her due date of December 30th. We called her our little tax deduction.The next evening some close friends snuck champagne into my hospital room for the best New Year’s Eve celebration we’ve ever had. Mary Martini has a degree in biology and has worked in healthcare administration in Minnesota for over thirty years. She is the proud mother of two “old babies,” one of whom now works at Counsyl. Her life experience has made her a firm believer in the value of genetic information in making health decisions.