A Baby With No Hope: A Mother’s Story

July 12, 2013 / admin / 4 Comments / ARPKD/CHF Alliance

The moment I was told my son would not survive; the world seemed to freeze all around me as I tried to absorb what was just said. My mind battled the information, while at the same time I felt a physical pain. The atmosphere of high anxiety immediately turned to anguish and little was perceived after that prognosis was delivered. Only later would I be given a shred of hope. There was a small chance he would live maybe a year, even so he could never live outside the hospital environment.

My son was diagnosed with autosomal recessive polycystic kidney disease. Up until that moment, I was in control of my fate; but I had no dominion over this disease that affected my baby’s life. My deep desire to have more children was now adrift, which in itself was devastating, as this disease was genetic with a 25% chance of recurring again with each pregnancy.

While my pregnancy continued, life was drastically different. I began interviewing doctors through consultations. I had to understand their philosophies on newborn pain management, because this is what I expected. When one specialist indicated newborns don’t experience pain and are never given pain medication, I quickly ended the appointment and sought guidance elsewhere. The joy of carrying this baby was tempered by fear, and instead of delivering at the local community hospital with the OB/GYN doctor I was happy and familiar with, I would deliver at a high-risk university setting with strangers, due to the advanced technology available. If there was the slightest chance my son survived his birth, cutting-edge ventilators would be required to help him breath.

My son was born on a December afternoon, under the strained circumstances of an unknown outcome. His rare condition made a unique learning experience and the labor room was crowded with both student doctors and medical specialists. His first frail cry ended the hushed, bleak anticipation that filled the room only moments earlier and brought a bustle of working hands. That sweet little baby was the most precious thing I had ever seen and it was overwhelming to consider the inordinate possibility he would not survive long. His lungs were partially collapsed; but at 3.5 weeks of age on Christmas Eve after much pleading, he was miraculously consented to go home.

The first year was the toughest. We endured failure to thrive and simple feeding was problematic. He also quickly outgrew his multiple hypertension medications, which meant many stressful medication changes. As a brand new mother, the mental fatigue of nurturing a sickly newborn was overshadowed with the constant fear of his untimely sudden death. There was a high degree of apprehension and concern I choked away. No doctor really knew what to expect, as disease understanding was minimal at best, yet life was nowhere close to what the prenatal experts predicted.

Learning to live and deal with my son’s condition with a healthy outlook took practice and time, and conquering my fear of his sudden death was part of that. At 6 weeks of age, he had surgical inguinal hernia repair and later he required growth hormone injections, which seemed to alleviate his lack of appetite. For quite sometime I was an overly protective helicopter mom. There were many questions about his future and many went unanswered throughout the years, but I’m extremely grateful he never fulfilled those early predictions of what his life would consist of.

My son’s life has been rather unremarkable, and some would say medically boring. He takes medication and has two annual visits with medical specialists per year; but in the real world of living, his life is very full and he has far exceeded any hope we had with this chronic, progressive disease. Though we were told the greatest we could ever expect was one year of life, we will celebrate his 22nd birthday this December. Because this experience was so traumatizing, I have supported other families throughout the years. This has had a ripple effect resulting in the establishment of a nonprofit, public charity with goals and triumphs specific for his condition.

My son’s disease is not screened for with newborn screening. There is no cost effective, accurate way to test for his condition at this point, but there are many conditions that can be screened for with a simple heel stick. Yet every state is different and what one state offers, another might not. In fact, some states require multitude tests, while other states require only a few. I am very supportive of newborn screening because newborn screening has the potential to not only save lives, but to improve human life and outcomes with early detection. Testing should not be dependent on where you live, but should be robust and equal from one state to another.

This article first appeared on Baby’s First Test.