Rare Disease | Real Stories
Never alone
This genetic counselor helped a family find answers along their pregnancy journey — and became so much more
Editor’s note: Essay by Nashwa Elkoshairi, written to nominate genetic counselor, Victoria Vincent, MS, of the Genetics Counseling Program at the South Carolina School of Medicine for the 2022 Heart of Genetic Counseling Award.
I was led to Vicky because of a tragedy: I lost my second son as a newborn in 2001. He died from surfactant protein B deficiency, an incredibly rare autosomal recessive lung disorder that causes most babies to die within the first few weeks of life. We spent three weeks in the NICU, watching him fight for his life. While so much of that time is a blur, I remember well those haunting feelings of disbelief and despair.
Vicky was the one who counseled us through the genetic testing that led us to discover that both my husband and I were carriers of this disorder. I was in shock: it is so rare it only happens in about one in one million live births. While we knew that each future pregnancy meant a 1 in 4 risk of the baby inheriting this disease, we decided to try again. Our third and fourth children were also born with surfactant protein B deficiency and died within 24 hours of birth.
The pain I felt during this time of my life is so hard to explain. I was so shocked at the coldness of people in my community. Neighbors were accusatory, demanding to know why my babies kept dying. I didn’t have the strength to explain to them that my husband and I were carriers of this deadly disorder. Instead, I withdrew.
I found the emotional support I needed during this time from Vicky. She was always there for me, to explain, listen, and console. Although she personally had never experienced this type of loss, she understood the grief I felt.
Over the next decade, Vicky played an integral role in my family’s life. We decided to do a procedure called chorionic villus sampling (CVS), a prenatal test used to detect genetic diseases during pregnancy. It’s usually done between the 10th and 13th week of pregnancy, where a small sample of cells is taken from the placenta to look for abnormalities.
Through the years, four healthy babies were born. Although this disease is recessive, it affected half of my pregnancies. Vicky was there for everything during this period. She coordinated each CVS, and she would always be the one to break news to me. She would not let anyone else take on that role. At one point, we decided to try IVF, but although that did yield one healthy child, the cost and stress was overwhelming.
Vicky helped me through that time, as well. She was there through the celebrations, and through the grief.
No one other than my husband, Vicky, and my physicians knew what we were going through with each pregnancy. I did not want to tell anyone, because I was afraid of judgment. The only person I trusted to truly “get” it and not judge me was Vicky. She was always just a phone call away and I knew I could always count on her to deliver news, good or bad, in the most compassionate way.
Although Vicky encouraged me to seek out counseling and support groups, I’m so introverted that I resisted. Vicky understood and made sure she gave me the time I needed to process my grief. Although she’d worked with another patient before who was a carrier for SP-B Deficiency, she shared stories about other women who found themselves in similar situations for other genetic conditions. It helped me to realize that I wasn’t alone.
Today, I have four healthy children, aged 11 to 22. After the birth of my last child, Vicky and I lost touch. And then, unexpectedly, she resurfaced. My 22-year-old son’s fiancée had decided to undergo genetic testing to make sure she also wasn’t a carrier of the gene mutation that causes surfactant protein B deficiency.
Although they were both overseas, somehow the genetic testing company sent Vicky a copy of the report. She called to give me the good news that my soon-to-be daughter-in-law was not a carrier. She and I shed happy tears over that. We had been through so much trauma together, and this time, it was a relief to celebrate the positive.
I said to her, “You have always been so much more than just my genetic counselor — you’re one of my dearest friends.”
Through all the despair and loss, Vicky was the one person who was always there for me, even when others turned away. I’m forever grateful to her.
