In December 2011 my husband, Ben, and I were expecting our third child. Like any other expectant parents we were busy preparing for our new little one, we had no idea the direction our lives were about to take. Our son, Rocco Steele, was born and was quickly whisked away to the NICU at Akron Children’s. He had a number of problems at birth that were scary, to say the least.
During the next 8 days our little man lived up to his name, and on Christmas Eve he had improved enough that we could take him home. One of the problems he had was an enlarged liver, which all the doctors felt would resolve once everything else had gotten better and he had time to recover from his very eventful birth.
Over the next several weeks, we saw a number of doctors, each time we heard the same thing: great looking baby, bad history.
In a routine visit with our pediatrician I mentioned that Rocco’s bowl movements looked funny. Right away Dr. Ginther had red flags go off, and he immediately referred us for blood work. We were then put in touch with Dr. Fyda, a pediatric gastroenterologist.
It was Dr. Fyda who diagnosed Rocco with Alpha-1 antitrypsin deficiency, which is a rare genetic disorder that can affect the liver and/or the lungs. Rocco’s liver is affected, so over time he could suffer serious liver damage. Alpha-1 is widely under-diagnosed, and it is estimated more than 100,000 Americans are affected with the disorder. Most people and many medical professionals are not familiar with the disease. Because of this, many patients face major organ damage as a result of delayed diagnosis.
It is scary to think that we could have gone much longer before Roc was diagnosed, but thankfully we were blessed to have doctors who recognized the signs and got our son tested sooner rather than later. Rocco’s future at this point is unknown, but we feel very fortunate to have a team of doctors working with us to ensure the best possible outcome.