Fanconi Anemia is a rare blood disorder that causes bone marrow failure and can be fatal. Siblings are the best hope for a bone marrow match with a transplant being the only life saving procedure currently used for FA. The Pearl children can’t help each other now, except to hold each other’s hands. Here is their story:

Life literally stood still on April sixth of 1995. Nineteen years later and a day, I gave birth for the second time. I know, that sounds crazy. After a very difficult pregnancy of bed rest and stopping labor twice by drugs and hospitalization, Alexandra Renee literally flew into the world four weeks premature. The doctor honestly caught her in the air. She was born blue, not breathing and they lost complete blood pressure on me having to revive me, too. Alexandra had Apgar scores of two on a scale of ten and I had flat lined. Suddenly, a calm beautiful birthing room was a blaze in light with countless professionals scrambling in from everywhere in the hospital. They were all just shaking their heads. Not a good sign. I still could hardly breathe. I didn’t have the strength or words to scream, “Where was my new baby girl?”

When I came to, I had never heard her cry. I feared the worse, that she did not make it. When my wet eyes focused, there was the head neonatal intensive care doctor in my face rattling off a laundry list of complications little Alexandra faced. I faintly heard him and had little understanding of foreign medical terms. All that mattered was if she was alive! Thank you, Lord. She was plagued with huge issues but I told her to be a fighter. She was tiny at 4 pounds 12 ounces. She was hearing impaired, did not have an anal area, intestinal problems, one fused horseshoe-shaped kidney, a non-working hypo plastic thumb on her left hand, a shorter left arm, probably could not walk, talk or eat on her own, he told me. The tears fell from my eyes in shock and pain racked my entire soul. This was to be my little girl so full of life. This was a second chance to be a mom again, wiser and much more prepared. Yet, it was instead the first of countless doctors to look at us shaking their heads in confusion, admitting they did not know why or they had never seen such strange complications. We would continue to hear much of the same over the next thirteen years of Alexandra’s amazing fight for life.

I finally woke later from heavy sedation in the middle of that first frightful night. I fell trying to get out of bed and something kept me down on my knees. “Why, I screamed to God. How can I handle such problems? She is just an innocent child, I yelled at Him through tears. What am I supposed to do now?” Right then in the silence of the night, I knew what to do. I asked Jesus in to my heart. I begged and prayed to be the best believer if He would help me cope. Slowly, the strength came as if a miracle to get up and walk through the dark, quiet hallways. I didn’t know where I was going and soon I found myself in the NICU (neonatal intensive care unit) right next to her sterile isolate incubator. I wanted to scoop her up and hold her tightly. All I could do was touch her tiny fingers through the hole. She was diagnosed with VATER’s syndrome or VACTERL association. This is an acronym used to describe a series of characteristics which have been found to occur together. V stands for vertebrae, A for imperforate anus or anal atresia, E stands for tracheoesophageal fistula, R stands for renal or kidney anomalies and radial or arm anomalies. Little did I know this was the first of many medical acronyms to come.

On December 5th, 2000, Alexandra was hospitalized in intensive care at St. John’s Mercy Medical Center in St. Louis; Missouri after complete blood count (CBC) identified blood levels suggestive of potential heart failure and internal bleeding. One more week without this care and diagnosis, Alexandra could have died. Throughout the night, she received a platelet transfusion and three units of red blood cells. December 6th, she underwent general anesthesia for a bone marrow aspiration and spinal tap. At this point, the doctors were suspicious of Leukemia. These tests showed definite signs of abnormal cells, but no Leukemia. The suspicion now turned to Fanconi Anemia. December 8th, surgery to implant a central line in her neck and chest occurred. This central line is accessed to administer daily medications and draw blood three times per week and saves the child much pain. She has learned all of her medications and pushes through some of them herself while most five-year-olds are learning ABC’s in school. She painted a red heart and wrote B+ on it. That became our new motto…… “BE POSITIVE”. December 9th, Alex was throwing up continuously and on morphine hourly for the pain. She turned to her mommy and said I want to go home, I can’t do this. December 10th, she received a second platelet transfusion and had a severe allergic reaction again delaying her release. All she wanted to do was watch the Rams vs. Minnesota game, but as the Rams were winning, her blood pressure went up and the nurses made her quit watching. December 11th, this was a good day as she ate a little orange sherbet on her own and walked to the bathroom by herself. She was so proud! The old Alex was back ordering us all around and that great giggle was heard. She and Matthew lay in the hospital bed and one would make it go up as the other made it go down connected like Velcro. December 12th, the big day…we went home. As we pulled into the subdivision, she said, “Praise the Lord, hallelujah.” We all laughed for the first time in a week.

Between December 12th and January 16th, she has received six platelet transfusions and one unit of red blood. Our next door neighbor who moved from South Africa is her sole platelet donor and a woman at church is a perfect red blood cell match for a rare characteristic in Alex’s blood. Blessing, blessing, blessing! It is critical that she has less than 10 donor exposures. This increases her chances of a successful transplant by up to 30%. Alex was isolated at home and could not attend school or play with friends. Mark, or as Alex calls him “Dr. Dad”, learned how to give her all her daily meds at home. Big brother Austin lost his job in Little Rock because he came home to help the family. Time together was priceless to this family as they treasure every moment of these three children’s lives. Alex and Matt look and play like normal kids; you would never guess what disaster was going on inside their little bodies. We have been through two bone marrow transplants and a job loss because of FA. Life is not for sissies and each moment a blessing.

We continue to raise awareness around the globe for people to get on the National Marrow Donor Program Registry and help raise funds for the Fanconi Anemia Research Fund. In 2007, FA families raised $1,816,526 for FARF.