My Daughter Led the Way: A Sickle Cell Diagnosis Story
“I watched you on the monitor, your hands swaying gently in the amniotic fluid surrounding you. You looked so calm. You were serenity defined. It was as if you knew what we were looking for. You had peace. You just wanted to show me how to find it.”
I couldn’t have been more than 12 years old when my mother first told me that I was a carrier for sickle cell trait. I was too young to wrap my mind around what that meant. But I knew by the amount of times she reminded me of it throughout my teens and 20’s that it would come into focus when I decided to have children.
I wasn’t clear on my then boyfriend’s sickle status until well after we were engaged. Unsure of his own status—but sure that we wanted children together—he decided to ask for a blood test which revealed that he was a carrier for sickle cell trait, just like me.
Sickle cell disease (SCD) is a group of inherited red blood cell disorders.
People with sickle cells have red blood cells that are like a C-shapes instead of the round, smooth shape of a healthy blood cell. Sickle cells die early, which means less healthy red blood cells. And when sickle cells move through small blood vessels, they get stuck and clog the blood flow, which results in pain and complications to major organs.
Those who have the disorder are born with two sickle genes: one from each parent.
Those who inherit only one gene have sickle cell trait, which is not the same as sickle cell disease. Sickle cell trait carriers lead healthy lives though they can pass the defective gene on to their children.
About 1 in 13 African-American babies is born with sickle cell trait.
About 1 in every 365 black children is born with sickle cell disease.
People tend to think of sickle cell as a black disorder but people of Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds are also affected.
When Michael and I found out we were pregnant with our first child, I wanted to know our baby’s sickle cell status right away. I couldn’t wait until the standard newborn screening. Our OB told us we could get more information through an amniocentesis, which is a sampling of amniotic fluid that searches for developmental abnormalities or genetic conditions like sickle cell.
I was nervous about having an amniocentesis. The thought of the very thin and hollow needle going into my uterus didn’t sit well with me. But at the time, the unknown far outweighed my fear of the procedure. I thought finding out right away would prepare us. I thought knowing meant more time to find a hematology clinic. Maybe getting as much information as possible before our daughter arrived would prepare us for the worst.
I remember sitting in the bathroom a couple of days before the amniocentesis was scheduled stuck in a fit of anxiety. I was desperate to take the weight of the unknown off of my shoulders.
I can still remember the slight pinch in my belly during the test. It reminded me of a very quick but deep, sharp menstrual cramp. I don’t recall it being too painful but honestly, my focus was on my baby. My eyes were fixed on the monitor. “You’ll be just fine” is all I could think. My mind knew that. I just needed to get my heart on board.
I watched you on the monitor, your hands swaying gently in the amniotic fluid surrounding you. You looked so calm. You were serenity defined. It was as if you knew what we were looking for. You had peace. You just wanted to show me how to find it.
The physician performing the test made note of the healthy and strong baby that was growing inside of me. “Look at those beautiful fingers! She’ll play piano someday.”
The effects of SCD vary from person to person and can change over time. Some of the signs and symptoms include severe pain, swelling in the hands and feet, anemia, fatigue, organ damage, jaundice and infections.
People usually start showing signs of SCD when they are about 5 months old.
There’s a promising future for donated half-matched stem cells and sickle cell but right now the only guaranteed cure is a well-matched bone marrow transplant, usually from a sibling with the same parents. And because bone marrow transplants carry a lot of risk, they are only used in severe cases.
It was mid-morning when the doctor called with our results. I’d decided to sleep in that day since I’d just wrapped up a mountain of freelance work. I’d even prepared myself for the way we’d get the news. I expected a lot of “I’m sorry” from a concerned voice, with a lot of pity. But the doctor was very clinical and even-toned when she told us our daughter had sickle disease. “Hemoglobin SS…”—which is the most typical and severe variant—“…is what the results found. And she is definitely a girl!” she cheered in effort to lighten the heavy load she had just delivered.
I thought knowing would land softer.
It didn’t. It landed hard and it hurt. I thought about a lifetime of clinic visits, the pain, the complications, the obstacles that our daughter faced. And I cried. I mourned a future that I hadn’t even seen. I blamed myself. I felt selfish and guilty. “This is your fault! You knew the risks. You knew since you were little that this was a risk.”
I was not gentle with myself. And I was so sad for my baby who had no say in her genetic coding. But I had to center the facts. We did know the chances of us having a child with sickle cell. And the fact was we created our daughter in love, and that is exactly what we needed to center as we raise, nurture, teach and fight for her.
We researched and met with the director of our nearest sickle cell clinic when I was about 7 months pregnant. We learned as much as we could about how to manage sickle cell and model a healthy lifestyle for our daughter.
And I committed myself to repeating positive affirmations like these. They helped me reaffirm the beauty of being pregnant with new life:
There is a healthy, safe and loved human being growing inside of me.
Though we may never know her pain, she will never bear it alone.
Our daughter is our precious 1 in 4.
Treatment for sickle cell disease has come a long way. Life expectancy, medicine and treatment have improved drastically. All states now screen newborns for sickle cell, among other conditions.
Our daughter has defied the odds. She has never experienced a pain crisis. She has yet to face a complication due to her disease. All the symptoms that I’d prepared to see by the time she was 6 months old have yet to show up.
For nearly 8 years her hemoglobin levels read as though she is only a trait carrier, not a young girl with full blown sickle cell. She is blessed. She is healthy, beautiful and lives in the complete joy that is childhood.
I hold onto these triumphs knowing that it may not always be this way. There may be some tough battles ahead. It may not always be this bright. But I have to trust this walk. Everyday our daughter shows us how.
There are some powerful stories from people living with Sickle Cell today on Generation S. I encourage you to read and share.
