Today is Rare Disease Day 2019. This is the 12th year that this day has been observed to spread awareness of rare diseases in the US. Today families, policy makers, researchers and patients focus their attention and efforts to shine light on diseases that rarely get airtime.
I am a Sickle Cell mom. My son Dylan (5 1/2) has full blown Sickle Cell Disease SS. I am also a carrier of the Sickle Cell trait. In order to have a baby with Sickle Cell Anemia both parents need to be carriers of the trait. Each time two carriers have a baby there is a 25% chance of their child having full blown Sickle Cell Anemia. Sickle Cell Anemia is an inherited blood disorder that affects the production and health of red blood cells in individuals born with the disease. It is not contagious and can only be passed down to the children of two Sickle Cell Trait carriers.
Even before having a child with Sickle Cell Anemia, I had my own personal experience with the Sickle Cell Trait. I discovered I had the Sickle Cell trait in 1999 when I was pregnant with my oldest son. They complete a battery of genetic tests at the beginning of every pregnancy and informed me of this genetic abnormality. At 19 years old I had never been told that I was a carrier of the trait. My mom knew I had it, but neglected to tell me because she didn’t think it would impact my life. As a child I ate baby powder and I currently eat ice incessantly, which is called PICA. I didn’t know these were linked to the Sickle Cell Trait.
People with the trait were previously thought to live normal unaffected lives, but we are learning every day that the trait actually has an impact on your life in ways that were never shared with me or my family. When I was 23 I began having severe pains and started to run a slight fever. I went to the ER and was sent home with antibiotics. The next day I was back at the hospital being admitted for a severe UTI (urinary tract infection) I was in the hospital for 4 days being treated with pain meds and antibiotics. I did not connect my experience to the Sickle Cell trait nor did any of my physicians make the link. However, in 2014 in this John Hopkins study researchers are linking Sickle Cell Trait with Kidney Disease.
I was a field sales rep at the time and neglected to drink water as frequently as I should because finding a bathroom was somewhat difficult. The study specifically mentions that having the Sickle Cell Trait means that my red blood cells CAN SICKLE! Even though the sickling that occurs is less frequent and less severe, in certain conditions like dehydration and altitude changes if you have the trait you can experience the SAME pain crisis’ , organ damage and even sudden death as a patient with Sickle Cell Anemia.
My goal is to spread the word about Sickle Cell Anemia so that the outcomes for my baby are better, but also so that people don’t continue to ignore the impact this disease and the trait are having in our community. I read somewhere that the number of babies being born with Sickle Cell Anemia is increasing and by 2050 will have doubled. If you aren’t sure if you have the Sickle Cell Trait or not please get tested. It’s a simple blood draw and the test is called Electrophoresis. This determines if the trait is present in your genes. Be sure the testing covers all of the Sickle Cell types including Beta Thalassemia.
According to the CDC it is estimated that:
- SCD affects approximately 100,000 Americans.
- SCD occurs among about 1 out of every 365 Black or African-American births.
- SCD occurs among about 1 out of every 16,300 Hispanic-American births.
- About 1 in 13 Black or African-American babies is born with sickle cell trait (SCT).
Please share with your friends and family to help spread awareness about Sickle Cell Anemia and Sickle Cell Trait.