Our Stories

Sean

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 2019) he is doing well.  He is finishing up this senior year of high school and heading off to college in the fall. While we are thrilled to report this great news, we are also painfully aware that Sean’s condition can change at any time.  This past December Sean fell at a basketball game which resulted in a trip to the ER where they discovered a mass in his brain and significant bleeding and swelling. He was immediately rushed to the neuro- intensive care unit and then transferred to John’s Hopkins to remove the mass.  We were initially told that the mass was an aggressive brain tumor and the prognosis was grim.  However, when they biopsied the mass during surgery, it was discovered that the mass was actually not cancer but inflammatory tissue. Of course we are elated that we were not battling cancer, but we have not been able to identify the source of the inflammation and therefore cannot ensure that it won’t return.  We are currently working with Johns Hopkins, NIH, and two specialty FA transplant centers to identify the root cause.  We have been able to identify several other FA patients that had similar conditions and FARF is now working on putting together a study to investigate further.  We are once again very grateful for the generous support of our friend and family who have donate to FARF over the years to make this study possible.