Rare Disease Week 2022: How to Become the Hero in Someone Else’s Story

Rare Disease Week 2022

Rare Disease Week is the week that leads up to Rare Disease Day, which is recognized on the last day of February. This year, we are bringing special attention to these events with a series of patient stories, with one being released each day from Monday the 21st to Friday the 25th. At Patient Worthy, our main focus is on sharing the stories of rare disease patients. With this initiative, we are making this more of a priority than ever before.

How to Become the Hero in Someone Else’s Story

Written by Alexis Lott

In my experience, the impact of a sickle cell disease (SCD) diagnosis reaches far beyond the person living with the genetic disorder. When I was diagnosed as a newborn, the condition turned the lives of many people in my life upside down. My mom became my biggest advocate and my grandma learned how to recognize when I was having a vaso-occlusive crisis (when the blood flow to an area of the body is blocked due to sickle-shaped blood cells stuck in the blood vessels) after rushing me to the emergency room when I was three months old. Before I could speak and tell them I was in pain, they noticed that my typically happy personality would change dramatically during a crisis. But the people who have played some of the largest roles in my medical care are strangers. In my 31 years of life, I have received more than 30 lifesaving blood transfusions from anonymous donors. I am passionate about sharing my story so others know the impact of SCD and how important blood donations are in our lives.

In people with SCD, the red blood cells form in a sickle shape and can’t transport oxygen throughout the body efficiently. This can lead to anemia, pain crises, infections, stroke and organ damage. The disease is most prevalent among those of African descent but is also seen in the Hispanic, Asian, Middle Eastern, and Mediterranean populations. While treatments are available to address some symptoms of SCD, there are no approved medications that target its genetic root cause.

Due to medical complications I’ve experienced, including avascular necrosis and liver failure, I receive blood transfusions every year. They provide temporary relief to some of my symptoms but potential supply shortages always present concerns. In April 2020, my hemoglobin levels fell to a dangerously low level. My doctors agreed that I needed a blood transfusion, but the COVID-19 pandemic caused such a severe donation shortage that there was no blood available. Instead, I was given pain medication and saline to help manage my discomfort and rehydrate me while my heart strained to keep my body oxygenated. Luckily, I was able to receive a transfusion in time, but I want to do my part to ensure that nobody else has to go through this terrifying situation in the future.

My advice for those who want to help members of the SCD community is to become educated. The more people learn about SCD, the louder the conversation surrounding the disease will be. I hope that this conversation eventually leads to the approval of safe, effective and accessible treatments. I also hope that sharing my story reminds people to make blood donations part of their regular routine because as research progresses, becoming a blood donor is an easy and powerful way to save lives.

Alexis Lott is a marketing professional who lives in Columbus, Georgia with her husband. She was diagnosed with sickle cell disease as a newborn and began her work in advocacy as a young woman after experiencing multiple complications from the disease that required lifesaving blood transfusions. She is passionate about sharing her story to build awareness of the impact sickle cell disease has on the lives of patients and their families.

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