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 five years post transplant. We are happy to say he is doing well and is acting like a typical 15 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 11 year old girl!