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.
Chronic illnesses like alpha-1 antitrypsin deficiency can take a lot of energy out of those who are suffering and it can be tough to find a balance and not overdo it. Alpha-1 antitrypsin deficiency occurs when the liver doesn't release enough alpha-1 antitrypsin into the blood, which is a protein that helps with lung function and can also impact the liver. It is a genetic condition meaning those who have alpha-1 antitrypsin deficiency and are carriers are born with these genes. There is no cure or anything that can be done to change these genes. If you have this illness, it's not your fault.
Patients who have alpha-1 antitrypsin deficiency may experience lower oxygen saturation levels and require supplemental oxygen along with augmentation therapy as well as inhalers for shortness of breath and other symptoms. This can interfere with all aspects of life from working, daily life, finances, mental health, and so much more. However, there are some lifestyle changes that those suffering with alpha-1 antitrypsin deficiency can make to try to help combat some of their symptoms.
These lifestyle changes include:
If you think you may have alpha-1, ask your doctor today how you can be tested. It's a simple blood test that is free and will allow you to know your alpha-1 antitrypsin protein level and your phenotype (ZZ, MZ, MM, etc.).
I hope you find this information helpful.
To learn more about alpha-1 antitrypsin deficiency, check out Samantha's book Living with Alpha-1 Antitrypsin Deficiency, which is published by Hatherleigh Press and distributed by Penguin Random House.
Picture from rheumatoidarthritis.net
Working with a chronic illness is difficult to say the least. Even though we are in pain, feel fatigued, juggling doctor appointments, etc. we still may have to work. We still have bills to pay and most likely have a pile of medical bills we have to pay. We want to work. We don't want handouts. Life doesn't stop when someone has a chronic illness. We may have to put our dreams and careers on hold because of our chronic illness. If this is you, know that you are more than your illness. You are more than your job. You are more than what you are physically able to do.
It's important that we find a job we can do physically so that we don't further exacerbate the symptoms we are experiencing. With endometriosis, if I worked for eight hours a day standing on my feet, my pelvic pain intensified and worsened. I was exhausted, fatigued, had nausea and headaches. This is why I haven't been able to work full time in the last five or more years as a pharmacist or pharmacy technician. I haven't had a job more than a couple of months since 2013 because of my health.
I am now working in a local restaurant office for about five hours a day Monday through Friday. I'm able to sit most of the day verses standing on my feet. I haven't been experiencing pelvic pain and I attribute that to not standing while I work. I thought after withdrawing from pharmacy school that I would never find something else that I would like, but I have. I'm a nerd and enjoy numbers, spreadsheets, and working on computers. I took Accounting classes in high school and college, but never really considered doing anything with it until this opportunity came up, which I'm thankful for.
It's important that we put our health first even while working. It should be okay to ask for accommodations. If you feel like you're having to jeopardize your health for you job, it's okay to speak up for yourself and even quit if that's what you need to do. It has been hard to recognize where my health is and to quit school and work when I needed to. It's hard speaking up for myself, but if I don't, people won't know what I'm going through or help if they can or are willing to.
If you're not able to work, that's okay, too. You are more important than a paycheck. It's okay to apply for disability and ask for help. Know that you are not alone.
Here are five tips that I think are important:
I hope you find this helpful.
Picture from: urgentcarefl.com
November is Alpha-1 Antitrypsin Deficiency Awareness Month and is being recognized by the Alpha-1 Foundation, in the state of South Carolina, as well as other states by their governors.
Why is Alpha-1 Antitrypsin Deficiency Awareness Month so Important?
Alpha-1 antitrypsin deficiency is an illness that at least 100,000 Americans have been diagnosed with it. There could be more people suffering with it that aren’t aware they are or what it is. It occurs when the liver doesn’t release enough alpha-1 antitrypsin protein, which helps the lungs function properly. With low levels of the protein, lung illnesses and liver disease are more likely to occur. Alpha-1 antitrypsin deficiency is a disability as it can affect oxygen saturation levels and the respiratory system.
Symptoms that can be present with alpha-1 antitrypsin include shortness of breath, chronic respiratory infections with or without mucous, low oxygen saturation levels, a large decrease in lung function in a small amount of time, as well as others.
Illnesses that can accompany alpha-1 or be diagnosed instead of alpha-1 include: chronic obstructive pulmonary disease, emphysema, asthma, as well as others. Those who smoke are more likely to show signs of alpha-1 than those who don’t smoke with the illness.
It is a genetic disease meaning that it runs in families. However, just because one sibling has it, doesn’t mean all siblings will have alpha-1.
Augmentation therapy given by infusion is the treatment for alpha-1; there is no cure. Inhalers, nebulizers, and supplemental oxygen can be prescribed to help combat symptoms like shortness of breath.
Here are five reasons Alpha-1 Antitrypsin Deficiency Month is so important:
1. Alpha-1 Antitrypsin Deficiency Awareness Month (November) can bring all of us together who suffer with alpha-1, which oftentimes leaves us isolated because it’s so rarely diagnosed and we don’t know anyone else with it.
2. We are louder in numbers. The more people we have talking about alpha-1, the better.
3. We can reach people who don’t know what alpha-1 antitrypsin deficiency is and make sure they receive the correct information, especially if they think they may have it.
4. We want the medical community to know we aren’t backing down!
5. We can let people know they aren’t alone in their symptoms.
Alpha-1 antitrypsin deficiency awareness is extremely important no matter what day or month of the year it is. When we ban together, we are more likely to be heard. I encourage you to talk to others and tell your story. Maybe it will lead to someone being diagnosed who otherwise wouldn’t have been and would have been suffering and not known why.
Samantha Bowick, MPH is the author of "Living with Endometriosis: The Complete Guide to Risk Factors, Symptoms, and Treatment Options" and "Living with Alpha-1 Antitrypsin Deficiency" as well as a fellow sufferer of multiple chronic illnesses and patient advocate.