Why I Advocate for Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency occurs when the liver doesn't release an adequate amount of the alpha-1 antitrypsin protein into the bloodstream. This can affect the lungs and liver of patients with this illness. Symptoms include shortness of breath, chronic respiratory infections, chronic cough with or without phlegm, as well as others. The treatment for alpha-1 is augmentation therapy, which is the alpha-1 antitrypsin protein given intravenously every week. Inhalers, nebulizers, and supplemental oxygen can help with shortness of breath. About 100,000 people have been diagnosed, but more people are believed to have alpha-1. The blood test is simple and free if you would like to be tested.

So why do I advocate for alpha-1 antitrypsin deficiency? When I was in high school about 10 years ago, my mom had lost a lot of lung function in a short amount of time. She had already been diagnosed with chronic obstructive pulmonary disease (COPD) and emphysema, but she was still declining more rapidly than expected. Her pulmonologist decided to test her for alpha-1 at the beginning of my senior year in high school and the test showed she has alpha-1 antitrypsin deficiency. She started on augmenation therapy and has been receiving it every week for the last ten years. She has also been prescribed supplemental oxygen along with her inhalers and nebulizers.

Since then, my dad, my sister, two of my uncles, cousin, and I have been tested. My mom and her youngest brother were diagnosed with alpha-1, my dad, my mom's oldest brother, and my cousin don't have either deficient gene. My sister and I are MZ carriers as we received an M from my dad and a Z from my mom. 

In January 2018, my uncle (my mom's youngest brother) passed away with what we think were flu and alpha-1 antitrypsin deficiency complications. Three days after he passed away, my mom's heart rate was elevated and my dad called an ambulance for her. While at the emergency room, she was diagnosed with the flu and told to go home with Tamiflu. My family wasn't having it. We had just lost my uncle and were terrified we were going to lose my mom, too. My mom, my sister, and I were in the room with the doctor and asked him if he knew what alpha-1 antitrypsin deficiency is when he told us he was discharging her. He said "It's like diabetes" and shut the curtain really fast. I went outside and called my dad and my sister went to the nurse's desk immediately. My dad called my mom's doctor office and the answering service told him they had to go by what the emergency room doctor said. The nurse told my sister that they have had a lot of complaints about this doctor. We told the nurse why we felt like my mom needed to be admitted, but there was nothing she could do. We had no choice but to take my mom home. It was the weekend so we had to wait until Monday to be able to see my mom's pulmonologist. 

This is not okay. The emergency room doctor could have called my mom's pulmonologist and explained what was going on and asked for his opinion. Instead, the emergency room doctor let ego get in the way and sent my mom home when she shouldn't have been. When we saw my mom's pulmonologist he said you lived through the flu and that he had several patients with respiratory complications pass away from the flu. He was not happy with our experience at the emergency room and filed a complaint about that doctor as he's on hospital board. 

I advocate for alpha-1 antitrypsin deficiency for my mom and uncle. I advocate to spread more education, awareness, and support to those who are suffering with it. Our experience should never have happened. The medical community needs to be more educated about illnesses like alpha-1 antitrypsin deficiency.

You can find out more in my book Living with Alpha-1 Antitrypsin Deficiency: The Complete Guide to Risk Factors, Symptoms, and Treatment Options, which details my family's experience with the illness as well as medical information and has a Foreword from our pulmonologist, Dr. Nicholas Sanito.

Take care,
💜Samantha