Sean was just three and a half pounds when he was born. Because of his low birth weight, thumb abnormality, and missing kidney, he spent the first two weeks in the NICU surrounded by doctors who poked, measured and x-rayed every portion of his body! Sean’s doctors presented us with a series of potentially devastating diagnoses, but none of them quite seemed to fit. Sean was eventually discharged from the hospital but the doctors remained mystified and advised us to follow up with the geneticist in a few months.
We immediately began an intensive research process ourselves, scouring the internet and spending long days at the MCV medical library searching for clues… all to no avail. Finally, when he was just about one-year-old, we got a letter in the mail (on a Friday afternoon… we will never forget that awful day) stating that our doctor would like to test him for a disease called Fanconi Anemia. “That doesn’t sound so bad”, we thought. “Maybe he just needs some more iron in his diet.. Ignorance is bliss, isn’t it?
Once the diagnosis was confirmed Sean began a journey filled with invasive procedures designed to improve longevity and track progress in battling his disease and managing his symptoms. He has undergone countless blood draws, skin and bone marrow biopsies, MRIs, endocrine studies, physical therapy, occupational therapy and two years at a feeding clinic (little or no appetite is an unfortunate symptom of FA). We are, however, amazed at how far he has come since his days in the NICU. His stamina and positive attitude inspire and amaze us each day. To know Sean is to love him.
Today (Spring 2018) Sean is able to live relatively symptom free. He is obsessed with ESPN, manages his high school football team, plays basketball, golf and does most other things that other 19-year-old boys like to do. He must have a CBC (blood draw) every four months and a bone marrow biopsy annually in order to keep a close watch on his rate of bone marrow production. We feel very lucky that we are able to enjoy this period of normalcy but are always “on guard” for it to change. We dread the day when we need to start packing for transplant. In addition, he is at significant risk of developing head and neck cancer as he approaches early adulthood. We try not to dwell on these realites but it unfortunately, it gnaws at us. We hold our breath before, during, and after each blood draw and count our blessings each time we get back results that allow him more time.