Naomi, Emma and Toby's Story
I was twenty-two years old when my obstetrician looked me in the eyes and said bluntly, "I'm going to send you to a specialist. The ultrasound showed some abnormalities." My husband and I were shocked and skeptical. We questioned her more closely about the abnormalities. "It just says, 'increased prominence of echogenicty of both kidneys,'" she shrugged, handing the radiologist's report to me. The OB didn't have any guesses as to what that meant, and offered no hope of remedying the problem beyond the cold suggestion, "You could choose to terminate."
Naomi Katherine Eby arrived just before 37 weeks gestation with a visibly distended abdomen and club feet. We did not receive the diagnosis of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis until three and a half years later, because Naomi didn't fit the classic profile. Most babies who are diagnosed with ARPKD/CHF will die because their lungs did not have enough room or enough amniotic fluid to develop properly. In God's mercy, Naomi's kidneys, though filled with cysts, were only mildly enlarged, leaving enough room for her lungs to develop properly. And though the club feet indicate that at some point the amniotic fluid level around Naomi was low, amazingly, her lung function was not at all impaired. Little Naomi was allowed to room in with me the first night, but when blood tests showed a climbing creatinine level, indicating deteriorating kidney function, she was moved to intensive care. The doctors began to discuss dialysis with us. I was forced to leave my baby at the hospital, not knowing when, how, or if she would come home with us. Amazingly, though her creatinine climbed to 2.3, it leveled off there when she was four days old, and slowly began to drop. With more than enough kidney function to lead a healthy life, Naomi was discharged when she was five days old.
Naomi's nephrologist and two geneticists assured us that whatever Naomi had, it was a fluke and would not repeat itself with any other children we had. Our second daughter, Hannah, was born completely healthy twenty-one months after Naomi, so I was stunned when, during my third pregnancy, the sonographer looked at me softly and said, "The baby has echogenic kidneys." Fearing a more grim outcome for our third daughter I sought comfort in choosing a name for her, it felt like something I could control in a rolling ocean of emotions. I sunk my anchor in the knowledge that God was in control and that he brings suffering to our lives for a purpose, and we chose the name Emma Peace, which means "embracing everything (in) peace."
My pregnancy with Emma was more complicated. She accumulated a large amount of fluid in her abdomen, called ascites. I accumulated far too much amniotic fluid, called polyhydramnios. Her heart rate remained at a steady 120 beats/min, refusing to accelerate with movement or startling, which concerned the doctors. The perinatalogist cautiously mentioned the possibility of terminating, but didn't mention that again after we told him that was absolutely not an option. I was subjected to two amniocentisis, one for chromosomal testing, and one to drain off one of the four liters of extra fluid I was carrying because I was beginning to have trouble breathing with an ocean of water pressing on my lungs. My labor with Emma was induced at just over 36 weeks because she showed clear distress, but once again we were graced with a miracle. Emma's lungs functioned normally, her creatinine never rose. She was kept for eight days in intensive care, then released to a near normal childhood.
It was when Emma was one month old that we finally received the diagnosis for both girls of ARPKD/CHF. Though we weren't exactly asking for another baby immediately after this experience God sent another one to us when Emma was eight months old. I dreaded the 20 week ultrasound, and felt like clubbing the two sonographers who stood beside me arguing about whether or not my baby boy had two kidneys. Back to the specialists we went, and I went back to the foundation I had found so secure before, naming this baby Tobiah Matthew, which means, "The Lord is good, gift of God." At least I was greeted with the loving, open arms of the same perinatologist who had cared for Emma. She had to assure me repeatedly that Tobiah's good kidney was completely normal and showed no signs of being cystic like Naomi and Emma's. His right kidney was shrunken and stuck to the bottom of his left. It probably wouldn't function well, if at all, but his left one was more than he needed to lead a healthy life.
Baby Toby did struggle with inexplicably high potassium levels requiring some medication, at least a hundred blood-draws, and one overnight hospital stay during his first year of life. But this problem vanished as strangely as it had come, around the time he turned one.
Naomi is now six years old. She has experienced mild developmental delays, wore braces on her feet for 18 months, underwent surgery for crossed-eyes when she was two, and has recently been diagnosed with Celiac disease, but what a blessing she is to us! She is a bright, adorable six-year-old with a soft heart for others. Emma is now three, she has experienced some speech and developmental delays, but is as bright and sweet as her sister. Toby is as full of life and vigor as any 20-month-old could be. Naomi and Emma have learned that periodic blood-draws, ultrasounds, and doctors' visits are a way of life, but really not a bad life. Naomi is enrolled in the high-ability program of her school and matter-of-factly answers the questions of other curious first graders who want to know why her belly is so big. ARPKD/CHF is a degenerative condition—the fibrosis in the liver and the cysts in the kidneys will continue to worsen as they grow. The girls will probably face life-threatening internal bleeding (the main complication of the liver fibrosis), as well as kidney transplants at some point in their life. They may not be able to carry children. They probably will not live to a normal life expectancy. The path we walk is lined with fear and sorrow, but there is far more joy and thankfulness growing along the way, if we will stop to receive it.
To all the parents who receive the devastating news that their unborn baby is not healthy I would offer these words: please give your baby the chance to live to the end of his or her natural life. Give yourself the chance to offer your baby love, comfort, and life. Many times the doctors are right and the outcome is grave—please offer your baby a dignified death and offer your family memories of your baby's brief life. But sometimes the doctors are wrong, and they are all too quick to suggest termination of pregnancy. My children are proof of that. There is a grace in receiving the unique children sent our way. There is joy in seeing the blessing they bring, even mingled with pain. In our effort to avoid suffering we all too often close ourselves off from the blessing these children bring. We are all too quick to label as punishment that which God means as a blessing. Sometimes grace comes thickly veiled in tears.
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-The support, information and encouragement provided by the PPFL parents is not meant to take the place of medical advice by a medical professional. Any specific questions about care should be directed to a health care professional familiar with the situation.