Alpha-1 Antitrypsin Deficiency: According to the Alpha-1 Foundation, 1 in 1,500 to 3,500 people of European descent are affected by this rare genetic disease. Antitrypsin or A1AT is a plasma protein that each person produces which protects the lungs and liver. People with Alpha-1 have these mutated genes that do not allow them to produce the sufficient A1AT, and it is passed down from both parents.
Some individuals who have Alpha-1 are lung, liver, or skin affected. It can possibly be fatal due to lung/liver failure and other complications. Many with lung complications develop genetic COPD/Emphysema. There are some people who have Alpha-1 who are asymptomatic. According to the National Institute of Health. Alpha-1 was discovered in 1963 by two renowned Swedish medical researchers who also determined that Alpha-1 can be traced back to the Vikings in Scandinavia many centuries ago.
In an article published by the Liverpool School of Tropical Medicine in the UK, Professor Richard Pleaass stated that “Vikings would have eaten contaminated food, and parasites would have migrated to various organs including lungs and liver, where proteases they released would cause disease.”
Although there are millions of people around the world who have Alpha-1, with a majority population in Europe, there are approximately between 80-100 thousand people in the United States with Alpha-1 Deficiency.
I was diagnosed with Alpha-1 Antitrypsin Deficiency in May of 2023. Up until approximately the early 2000’s, Alpha-1 was only considered a disease that affects “European White People.” In 2024, if you Google Alpha-1 Antitrypsin, you will not see many faces that look like mine. I was misdiagnosed with severe asthma at the age of 18 months old. I was in and out of the hospital all the time, even being admitted to ICU as a young girl. Both of my parents were born and raised here in the south.
My dad was diagnosed with asthma during his late teens. My mom never had any issues with her lungs. However, when she was a young girl, she was often sick. Doctors told my grandparents that they suspected that she had Sickle Cell Anemia. Sickle Cell Anemia has been labeled as a disease that was linked to black people; however it was never confirmed. She lost a sibling when he was only 2 years old to the same “sickle cell”-like illness in 1955.
My dad refuses to get tested for Alpha-1, however, my mom was diagnosed with Alpha-1 late last year. My mother was unaware of any European lineage on her side; I decided to take an Ancestry DNA test a couple of months ago. I knew about my dad’s side due to my paternal family being Louisiana creole. However, what I did not expect was: not only am I 2% Swedish/Denmark, but I am 5% Ashkenazi Jewish, 3% Welsh and 6% Northern European Region.
Back in June of 2024, I was invited to attend the annual Alpha-1 Conference hosted by the Alpha-1 Foundation in Miami. There were approximately 500 plus people in attendance. 400 of the attendees were people who have Alpha-1. I was not just the only African American in attendance, I was the only person of color.
Today, it is known that Alpha-1 has been detected in other ethnicities. However, Black people make up less than 1% of the population with Alpha-1. In a recent study published in Advances in Respiratory Medicine in December of 2023, titled “Testing Alpha 1 Deficiency in the Black Population,” they found that there is in fact still insufficient testing of the Black population that already experience poor health outcomes.
November is Alpha-1 Awareness month and I have partnered with the Alpha-1 Foundation to represent the underrepresented by speaking about my Alpha-1 journey and become an advocate at the national level.
If you or someone you know has any type of lung, liver or skin issues, the Alpha-1 Foundation has many resources including free testing and free family genetic counseling.
I share my story in hopes of spreading awareness about this rare disease but also to encourage people of color to get tested as well.
Original author Betrice Coleman-Sweet is a partner of the Alpha-1 Foundation. A woman of many talents, she excels especially in business strategizing and coaching. Betrice is also a writer and certified holistic practitioner — including reiki and herbalism — and she loves creating poetry, dancing, music, and spending time with her wife and grandchildren.
