Alex and Jacqueline's Story
Jacqueline was born with what we thought was VACTERL association. She had abnormalities of the heart, kidneys, esophagus, spinal cord and vertebrae. So at her five year check-up in September 2011 I was concerned about why she was sucking on a wash cloth, wondering if she was anemic. Our pediatrician drew blood and did a series of tests on her. All her labs looked okay except her platelets were very low. We were then instructed to see a Hematologist. After several months and many tests later we discovered Jacqueline had a very rare disease called Fanconi Anemia (FA)-a disease that leads to bone marrow failure and cancers. Our world just stopped.
Trying to give her the best care possible we went to Children’s Hospital of Philadelphia for a second opinion and to get her big brother tested to see if he would be a match for her when it was time to have a bone marrow transplant (BMT). To our surprise Alex’s blood counts were dangerously low. We knew in that instant that he too had FA! Our world came to a screeching halt AGAIN! We couldn’t believe it; Alex has been perfectly healthy all his life. But there was no time to mourn because his counts were so low that he needed a bone marrow transplant in the next 3 months to survive.
So off we went to one of the FA BMT centers for his transplant. We spent 4 long months in Cincinnati. Alex had very few complications, which we felt very blessed about. He is now four years post transplant. We are happy to say he is doing well and is acting like a typical 14 year old boy.
As for Jacqueline, well we are excited to say she had a successful transplant in 2016 at Cincinnati Children's Hospital and is doing very well. January 2017 she returned to school and is acting like a typical 10 year old girl!
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 2017) 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 18-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. We try not to dwell on that reality 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.