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Hope in the Face of Sickle Cell Disease

It all started with a diagnosis of sickle cell disease

It all started with a diagnosis of sickle cell disease

Tamaris and her husband were thrilled to welcome a son in May 2015, but they soon received devastating news. “A week after our son was born, we received a letter that his PKU levels were abnormal, so he could have a blood disorder. We went to the doctor for a retest and got a packet in the mail two weeks later that told us he had sickle cell disease,” she recalls.

A few weeks later, the couple took their son to a hematologist, but he wouldn’t confirm the diagnosis. According to Tamaris, “He told us they would retest our son again when he turned one. It was frustrating, but we went home.”

Life was normal for a few months, but the couple’s baby became feverish and inconsolable at around eight months of age. They rushed him to the hospital for treatment, but he developed the same set of symptoms three months later.

After this ordeal, Tamaris and her husband took their son to Children’s Hospital for more testing. This time, the testing confirmed the sickle cell disease diagnosis, so their son started treatment. Despite the treatments, their son had his first sickle cell crisis at the end of 2016. “He was feverish and so swollen that we couldn’t pick him up. He ended up staying in the hospital for almost a week and he needed a blood transfusion. It was very scary,” she remembers.

Once her son was home, Tamaris decided to take action. “I’m a nurse, so I started doing more research after his medical crisis. I came across bone marrow transplantation as a treatment for sickle cell disease. I saw a story online about a young musician with sickle cell. His mother was going to have another baby with help from fertility treatment in the hope of having a sibling who could be a bone marrow donor. This is when I started researching fertility centers.”

The journey to overcome sickle cell disease

After Tamaris read online reviews and discovered that our San Antonio fertility center accepted her insurance, she made an appointment with Texas Fertility Center-San Antonio. “When our doctor told us about IVF (in vitro fertilization) with PGD (preimplantation genetic diagnosis), we felt like we hit the lottery. My husband and I didn’t think we could have another child without worrying about sickle cell disease,” she explains.

The road to begin fertility treatment was long. According to Tamaris, “It was a year between our first appointment and beginning treatment because we were studying, praying and saving. We learned that there was a less than an 18% chance that our baby would be a bone marrow match for our son, but TFC put us in touch with Genesis Genetics and they put us in touch with a mother who had found success, so we decided to move forward.”

After egg retrieval and embryo biopsy at our San Antonio fertility center and San Antonio IVF, the couple ended up with a few embryos that did not have sickle cell disease. Out of the unaffected embryos, one was also a human leukocyte antigen (HLA) match for their son, so it was an easy decision to transfer that embryo.

“Our doctor said it was one of the most difficult transfers she had ever done, and it was painful, but it worked. I experienced some bleeding at the beginning of the pregnancy, which scared me, but the TFC staff helped me through it.”

All of their efforts paid off because the couple recently welcomed a beautiful and healthy baby into the world. According to Tamaris, “The process was very involved, but it was so worth it.”

Fertility treatment advice for other parents

Tamaris and her husband have faced some judgment for their decision to try to have a baby that they would not only love and raise, but who could also be a potential bone marrow donor for their son. “Some people have judged us, but for us, this was the right path to have a healthy child and, at the same time, help our son overcome sickle cell disease,” she explains.

For anyone who is considering taking a similar path to have a healthy child, she has advice. “Do your research and pray, then go forward if God makes a path. Also, if you haven’t had a baby yet, get preconception genetic testing. Knowing in advance if you are a carrier can help you take steps to avoid genetic illness in your children.”

In light of her tremendous success, Tamaris recommends our San Antonio fertility center to everyone. “The TFC doctors are awesome. Our doctor always listened to my problems, and she helped manage any pain or discomfort I felt. She would even call me after-hours. The nurses and the rest of the staff are also amazing. They responded to all of my questions immediately and were so helpful.”

Ultimately, Tamaris hopes that her experience can help other families. “I want to share my story with everyone because I didn’t have much information when I was first starting this journey. Maybe my experiences can help someone in a similar situation.”

Contact us if you would like to learn more about how fertility treatment at our San Antonio fertility center can help you protect your children from genetic illnesses.