Breyden’s Story
Our family of 3 became a family of 4 when our youngest son, Breyden, was born on Friday, November 4th, 2011. For the first few days at the hospital, Breyden was a happy and a seemingly healthy baby boy. Once we got him home worry began to creep into our minds. Breyden slept all day, which seemed to mimic his older brother, Tyler’s, behavior at infancy so we were not immediately alarmed. Unfortunately, night time was a different story. Unless we were holding him, Breyden woke every 20 minutes and screamed every time we tried to put him in his crib. It was exhausting and we could only conclude that we had been extremely fortunate with our first born and this was how “normal” infants behaved. Breyden’s first appointment with his pediatrician revealed that he in fact had lost over a pound and a half in the 4 days since his birth. This alarmed the doctor who requested we bring him back in a few days to re-check his weight, since at that time he was still waking during the day to feed. The day after that appointment we received a call from a random pediatrician’s office informing us Breyden’s newborn screening test was positive for Galactosemia. The nurse told us that we needed to stop breast feeding immediately, start feeding Breyden soy formula, and that we would receive a call from a local geneticist’s office to schedule an appointment for further information. I hung up the phone so overwhelmed and confused, I couldn’t even remember the word the nurse had used to describe Breyden’s genetic disorder. This left us hanging in suspense with only the news that something was terribly wrong with our son and turned us into panic stricken parents. Unsure what to research or how to confirm what the nurse had instructed we tried to contact our own pediatrician for information regarding Breyden’s new born screen test results. No answers came forcing us to wait for the follow up appointment. Finally, we returned to the pediatrician’s office for another weight check while still in the dark regarding the mysterious genetic disorder. Since his birth a week earlier, Breyden had lost over 20% of his birth weight. The pediatrician hospitalized Breyden immediately but still only provided very little and unnerving information about Galactosemia. While in the hospital, we continued to deal with nurses and doctors who could not answer any of our questions about Galactosemia or determine another diagnosis for Breyden’s extreme weight loss in just one week. Instead, we were eventually instructed to switch Breyden to soy formula (which he retched-making us more nervous). When Breyden was released from the hospital a few days later, having gained back less than half a pound we received a call from the geneticist’s office that provided us the information we desperately needed. A week after the geneticist appointment it was confirmed that Breyden was Galactosemic . While it was a relief to finally have a confirmed diagnosis and more information, we knew there was still a long road ahead. Since then, Breyden has been a happy, healthy little boy with very proud parents. He has had some bumps along the way with speech but gets weekly therapy through Early Intervention and continues to amaze us with his progress. As parents, we have tried to stay as educated as we can about Galactosemia and make the best possible decisions with regards to Breyden’s diet. We are so thankful and happy to have such a caring and supportive family, who has helped us in a variety of ways. Without them we would not have stayed so sane. We are also so grateful for our GAMA friends’ support and the knowledge they have passed on to us, without them we would still be overwhelmed and lost.