JONATHAN

This story is shared by a family whose son has sickle cell disease.

As a Mother of three healthy children and expecting the fourth, we were looking forward to another healthy baby. I knew that I was a sickle cell trait (SCT) carrier. My father was in the Air Force and had been tested by the military and knew that he carried the gene for sickle trait. I can remember my mother having discussions about sickle cell anemia with our family. She would reference my cousins who had sickle cell disease and the pain that accompanied the disease. She told me and my sister, who also has SCT, that we had to make certain that when we grew up that our husbands did not carry the sickle trait or we could have a child with this dreadful disease. Somehow, her teachings stayed with me as I became a young adult. At 17 years old, in-love with the man that I would eventually marry at 22 years old, I asked his mother if he had sickle cell trait. She emphatically quipped, "We don't have anything like that in our family!" I was relieved and did not question her any further. Besides, my mom knew my SCT status for certain, why wouldn't she?

Our first child was born in February 1992. Her newborn screen did not include a test for sickle cell disease (SCD) because it hadn't been added to the panel in Allegheny County until September 1992. She is a SCT carrier and we did not know it. In 1995, our second daughter was born, newborn screened for SCD and identified as having SCT. The information reached our pediatrician; he told us that she had SCT. Naturally, we understood that it could have been passed on from my genes and there was no cause for alarm. In 1998, our first son was born, newborn screened and was unaffected. We were not contacted, nor was there any discussion with our pediatrician. We simply assumed that I had passed on the working gene and all was well. Then we gave birth to our fourth child. At home on that Friday, the world we once knew started to turn on its head. As I kissed our beautiful ten-day-old baby boy and held him close, I smiled to myself and sat on the edge of the bed. The phone rang. I answered the phone; it was a nurse from Children's Hospital of Pittsburgh's Sickle Cell Program. She asked how Jonathan was doing and then shared with me that his newborn screen showed abnormal hemoglobin. I thought to myself, "It has to be sickle cell trait." But then she continued, 'Jonathan has sickle cell disease, SS, and needs to be started on medication right away." Reassured of my memory of genetics, I shared emphatically, "My husband does not have sickle cell trait and therefore, it isn't genetically possible for my son to have sickle cell disease!" and added, "So, your test must be wrong!" She insisted that their tests were pretty accurate and offered to retest the baby to confirm the diagnosis, then start him on the medications that would keep him healthy.

to go directly to the hospital with my new baby. As I held him, he looked so perfectly healthy. Surely, the test was wrong. It didn't make any sense to me to repeat the test or start him on medication that he did not need. Could it be that my husband had sickle cell trait all this time? My mind started to race. I yelled for my husband, Tim. My voice must have signaled to both of our mothers that something was wrong because they came into the bedroom behind him. I repeated what the nurse had shared with me. We were stunned. My Mom reassured me that as long as Tim did not have sickle cell trait, it was indeed impossible for Jon to have SCD. Then my mother-in-law started to question me. She said, "Why didn't you insist on testing Tim? Why didn't they test you guys when you got your marriage license?" I couldn't even muster a word. The feelings of blame were overwhelming. I was reassured that if Tim did not have SCT, Jonathan would not have disease, but scared just the same. Tim was on hemodialysis for renal failure. The following day, he went for his scheduled treatment and asked if they could test him for SCT. The Sickledex was used and told him that he was a SCT carrier. Choosing not to share this information over the weekend, he carried the weight of having SCT alone, remembering how his mother recently responded, until Monday when he came to me quietly after I had put Jonathan down for a nap, "I had a test at the clinic", he said quietly. "Give Jonathan the medicine." I knew immediately that he was indeed a carrier. We saw the Hematologist later that week and began our journey of helping Jonathan to 'Live well with Sickle Cell'.

Andrea M. Williams, BA Executive Director Children's Sickle Cell Foundation,Inc.

If you would like to share your own family's story, please contact us at email@savebabies.org.

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