Myriad Genetics Blog Our Family’s Journey with Sickle Cell Disease Our Family’s Journey with Sickle Cell Disease June 19, 2018 clinical Patients Reproductive Health Q&A with Aishwarya Arjunan, MS, MPH, CGC, Clinical Product Specialist of Carrier Screening, Myriad Women’s Health. June 19th is World Sickle Cell Day leading up to September which is Sickle Cell Awareness Month. We sat down with Andrea Matthews, a parent of a child with sickle cell disease to share her family’s journey with this disease. If you’re unfamiliar with sickle cell disease (SCD), you may be surprised to learn that over 275,000 individuals a year are diagnosed with the condition in the world. https://www.cdc.gov/ncbddd/sicklecell/traits.html SCD is an inherited blood disorder in which the body doesn’t produce enough healthy red blood cells to carry adequate oxygen throughout the body. The condition causes anemia, episodes of pain, swelling of the hands and feet, frequent infections, delayed growth, and vision problems. It has been estimated that approximately 100,000 people in the United States are affected by SCD. SCD is inherited in an autosomal recessive manner. This means that if both genetic parents are carriers, there is a 1 in 4 (25%) chance for each pregnancy to have SCD. Carriers, also known as individuals with sickle cell trait (SCT), generally do not experience symptoms of SCD, so many times individuals with SCT are unaware of their risk to have a child with SCD. To help raise awareness for this condition and day, I connected with Andrea Matthews, the founder of the Children’s Sickle Cell Foundation, Inc. Through the foundation, she has been able to help provide support and resources to other parents and children in the sickle cell community. Below, Andrea and I discuss her family’s journey with SCD, the creation of the Children’s Sickle Cell Foundation, and the importance of screening and early knowledge. Andrea Williams with her four kids. Jonathan is pictured on the far left. Your family has been personally affected by sickle cell disease. Can you share how your son was diagnosed? My son, Jonathan, was 10 days old when I received a phone call from the nurse at the local children’s hospital. The nurse explained that Jonathan’s hemoglobin newborn screen was abnormal and that they suspected he had SCD. I stopped the nurse with a definitive statement that my husband was not a carrier of SCD like I was, also known as having sickle cell trait (SCT), and that it was genetically impossible. The nurse insisted we schedule an appointment for follow-up testing. I remember the day we went in for testing as if it was yesterday. It was a sunny day in May of the year 2000. As I sat in the back of our minivan, next to Jonathan’s car seat, I looked at him through the darkest sunglasses and the tears began to fall. He looked perfect. I could not fathom the possibility that he had SCD. What would this mean? I thought of my cousins and everyone else that I knew who had suffered, even died because of this disease. When we arrived at the hospital, the sickle cell team, including the nurse that I had spoken with by phone, the social worker and physician greeted us promptly. They performed the blood test and proceeded to give us information about SCD. The entire time, I half-listened because I did not want to admit that somehow, despite my mother’s warnings and my knowledge of my carrier status, I had allowed this to happen and now my precious baby might suffer or even die from this disease. The testing done that day confirmed that Jonathan had SCD and forever changed our family. Andrea and Jonathan at age 7. You mention your mother’s warnings and your knowledge of your carrier status. What did you know about SCD and genetic testing prior to starting your family? I have always known that I was a carrier of SCD. My father, an Air Force veteran, learned of his carrier status while serving in the military. One of nine children, my mother insisted that we were all screened for SCD because of this information. Through this testing, we learned that my sister and I were both carriers. From a young age, my mother often reminded us about the importance of marrying someone who did not have SCT and the potential risk (25% in every pregnancy) of having a child with SCD if we did. I had two cousins who had SCD, and one passed away during our teenage years. From time to time, I would think about how difficult their lives were and how hard it was to lose my cousin, and remember what my mom had said. I always thought that there was no way I was going to let that happen to me. But it did. I made sure to ask my then boyfriend and future husband, who was also African American, to ask his mother if they have sickle cell trait or disease in their family. Anyone can be a carrier, even with no family history. In fact, 1 in 13 African Americans is a carrier for SCD. She told us that there was nothing like that in their family. This gave me the confidence that I didn’t have to worry about having a child with SCD. But this confidence was misplaced. What I didn’t know was that family history doesn’t always tell the full story. My husband and I didn’t realize that he still needed to be screened and no one told us this during our pregnancies either. What are your thoughts now on the importance of screening? Jonathan’s diagnosis immediately had me concerned for my other children. Jonathan was the youngest of four and I was concerned about the newborn screen results for the other three kids. I soon learned that all of the kids were screened but there was no system in place to follow-up on those kids that were identified as carriers. My oldest two are both carriers. I have wondered many times what our lives would have been like if there had been a system in place to follow-up on newborn screening and provide our family with the proper genetic testing and counseling that would have prepared us for the possibility of having a child with SCD. I strongly feel that having this knowledge helps families make decisions that are right for them. Andrea with her mother and Jonathan. How would this information have affected your family planning? Prior to starting our family, we were not aware of genetic testing or genetic counseling. When I allow myself time to think about it, I still have some “what ifs” about my husband having SCT. What would we have done if we’d known before we started our family? I feel confident it wouldn’t have changed our decision to have our children, and it wouldn’t have changed our decision to keep any individual pregnancy, but it would have allowed us to prepare for the possibility of disease. Instead, we were caught off guard. It made coping more difficult and added stress to an overwhelming time in our lives. For this reason, I feel that it is important for all families to have access to genetic screening and counseling so they can make informed choices and avoid the punch in the gut that an unexpected diagnosis delivers. How has your family’s journey motivated you to give back to the sickle cell community? When Jonathan was first diagnosed I had trouble finding support for my son and family. I realized that there were not many resources available to kids and families who were impacted by the disease and realized that I needed to do something. In order to address this gap, I helped establish the Children’s Sickle Cell Foundation, Inc with other parents and community leaders. The Foundation is focused on providing educational and financial support to children and families in need and educating the greater western Pennsylvania region by offering education and screening opportunities in the community during health fairs, events and blood drives. My son is now a beautiful, vibrant, great young man who is “Living Well with Sickle Cell®”. We have had our share of hard moments with SCD and are waiting anxiously for a universal cure. Our family talks freely about genetics, risks, and responsibility in relationships. We will be prepared with family knowledge, genetic testing, and genetic counseling when the time comes for the next generation to start their families and we want to make sure that others are too. Knowledge is power and we want all individuals to have access to this information so that they can ensure that they are prepared when starting a family. ____________ Andrea Matthews is a parent of a child with SCD and an advocate for the SCD community. She served as Founder and Executive Director of the Children’s Sickle Cell Foundation, Inc. for 13 years before making the move to work on a national level as a Public Health Analyst in the Maternal Child Health Bureau at the Health Resources and Services Administration (HRSA) where she remains today. Aishwarya Arjunan is a board certified genetic counselor with experience in prenatal and pediatric genetic counseling. Prior to joining Myriad Women’s Health she worked at the Sarnoff Center for Jewish Genetics and Ann and Robert H Lurie Children’s Hospital of Chicago. She obtained her MS in Genetic Counseling and MPH in Human Genetics from the University of Pittsburgh Graduate School of Public Health. She is currently also a core faculty member of the Northwestern Graduate Program in Genetic Counseling.