During the Month of February, the Alpha-1 Foundation collaborates with RareDiseaseDay.org and the National Organization for Rare Disorders (NORD) to raise awareness of Alpha-1 leading up to Rare Disease Day.
Get Involved
There are lots of ways to participate in Rare Disease Day:
- Spread Awareness: download our Rare Disease Day Digital Toolkit and share official A1F content on your social media during the month of February. #Alpha1Awareness #RareDiseaseDay
- Attend Rare Disease Day events: review the list of upcoming events featuring Rare Disease Day, including A1F Education Days, Rare Disease Day at NIH, and more!
- Share your story: whether you or a loved one has been diagnosed with Alpha-1, we want to hear your story. Share your story in the comments section and connect with others who may be going through a similar experience.
Rare Disease Day Digital Toolkit
Download the free Rare Disease Day Digital Toolkit
Rare Disease Day Events
Rare Disease Day will be celebrated at the A1F Austin Education Day on February 21, where the Alpha-1 Foundation will come together to raise awareness of Alpha-1 Antitrypsin Deficiency (Alpha-1) as one of these rare diseases. Alphas, family members, caregivers, friends, and healthcare providers are invited to attend and learn about the latest research, lung and liver disease, and other important Alpha-1 topics.
FDA will host Rare Disease Day, a virtual public meeting, on February 23, 2026, in observance of Rare Disease Week. The event will focus on engaging patients and communities to advance rare disease medical product development and regulation.
Rare Disease Legislative Advocates, a program of the EveryLife Foundation for Rare Diseases, hosts this free multi-day event to unite advocates from across the country. Participants gain insight into policies affecting the rare disease community and have the chance to speak directly with their Members of Congress to push for meaningful change.
Join the National Institutes of Health (NIH) on Friday, February 27, 2026, from 9 a.m. to 5 p.m. for a full day of learning and connection centered on lived experiences. The event will feature panel discussions, rare disease stories, in-person exhibits, scientific posters, and an art exhibition.
In 2018, after losing a family member to cirrhosis, I decided it was time to get tested. We already knew she had Alpha-1, and several other relatives had also passed away from cirrhosis. After my diagnosis, I began closely monitoring my liver and lungs. In February 2024, I was diagnosed with ALpha-1, was listed on UNOS in December 2024, and received a liver transplant on October 31, 2025. Since then, most of my family has been tested so they understand their risks and can take steps to protect their health.
I had first felt something was not right at the end of 2019. My liver enzymes were high and I was having gastrointestinal problems. I was overweight and had many illnesses that for years, I was on multiple medications to help or mask the pain. An ultrasound in 2019 came back with nothing out of the ordinary except for gallbladder sludge. Soon after 2020 happened, then 2021 I was still not comfortable going to the doctor. At the end of 2021 my father passed away at 72. Because I had been so sick and all of the things he had gone through over the years with symptoms that seemed to be identical to mine, it made me think about my own health. I was able to get an appointment for an MRI in March 2022, two days after my 55th birthday. These results showed that my liver was sick and a liver biopsy was scheduled. On what would have been my dad’s 73rd birthday I had the biopsy and a few days later the Doctor called me and just said I had fatty liver , bridged stenosed fibrosis state 3/4 with cirrhosis and I would have to stop drinking immediately. When I told him I was not a drinker, he did not believe me but ordered a blood test for Alpha 1 and said we would talk when it came back. That next Friday, I received a call from him at 4:45pm. He said he had good news and bad news. The good was that he believed I was not a drinker. The bad was that I had Alpha 1 Antitrypsin deficiency and that there was no cure. He said I was a ZZ and would most likely need a liver and possibly a lung transplant if I was lucky to live that long. He said I had about 5 years to live and to get my affairs in order. He asked me if I had any questions and all I could think of was “Do I need my gallbladder out?” We hung up the phone and the questions came. I forgot about the Antitrypsin diagnosis and only heard you have cirrhosis. So that day I cried for a very long time. I found a new hepatologist. I changed my lifestyle. I walked every day, sometimes 6 miles only ate liver friendly foods. I lost 116 pounds. I was so strict my hepatologist sent me to a nutritionist because I was afraid to eat anything I thought would hurt my liver. He told me lets forget about that 5 years. Our goal is keep you from needing a transplant until you are too old to get one. He changed my life. He saw my determination. That is when my focus changed to learning everything I could about Alpha 1. Tested my children, encouraged my family, even ones I never really talk to. I talked about Alpha to anyone who would listen. Came to virtual Ed Days, National Conferences, and made so many new friends (family) I participate in a clinical research study. I am learning about fundraising and became an advocate and a support group leader. I continue to live my best life and stay active even when a new medical issue comes up. My liver is compensated and that is the only word I focus on. Fatty liver is gone and fibrosis scale has gone down a little. I just started infusions this year. Alpha 1 has been one of the worst and best things that has ever happened to me. The Alpha-1 Foundation gave me new life goals and I am forever grateful to have found them one night while frantically searching the internet trying to understand what was happening to me.
After my younger brother was diagnosed with Alpha-1 in 2005, my sister and I were encouraged to get tested. I learned that I was positive as well, though our sister was not. We lost my brother in 2014, and I later received a liver transplant in 2017. I now manage my health with yearly visits to my GI specialist, anti-rejection medications, and treatment for an autoimmune disease.
My brother was diagnosed with Alpha 1 ZZ in 2008. I was tested and had the same. I have always had health problems and problems with breathing. I was 63 years old when diagnosed and am now 80. I could never drink milk or take medications. I have been hospitalized with pneumonia 4 times. The first was due to a trip to Las Vegas and all the cigarette smoke. I have never smoked, lived with a smoker or drink anything except an occasional small glass of wine. The medications for pneumonia caused me to have even more difficulty breathing and my entire body turned bright red. The nurses called it Red Man Syndrome. I can take a series of Prednizone occasionally. I live in a clean air, rural area, walk and do breathing exercises. I also have Night Shade allergies and cannot eat tomatoes, potatoes or peppers. I eat natural and organic foods. I don’t have mucus, have had RSV vax. and Covid shots and boosters. Did not have a problem with those and have not had flu or covid. The research and reports I receive from the foundation have been very helpful. My suggestion to all is to try to live as natural as possible, eat good foods, don’t smoke and exercise as much as your body will tolerate. I am not on oxygen or medications can still walk and talk as normal but no longer have the breathing capacity to swim and cannot sing an entire hymn without tiring.
I’ve been diagnosed with Alpha-1 for over ten years and have been going through infusions once weekly for over a month.
I was diagnosed as a ZZ Alpha about 4 years ago at 62 years old. My liver and lungs are affected by it so far. I am waiting on a research drug to maybe slow it down. I am in 2nd stage of COPD, Asthma, and cirrhosis. So far, my liver is working, but fully cirrhosis. I have a lung specialist and a Liver specialist who watches me closely. I pray one day, they will have a cure for this disease.
I was diagnosed with Alpha-1 (ZZ) in 2020 at 34 years old. It was devastating to go from being an active, outdoorsy person to needing oxygen and struggling to walk even 100 feet. In 2024, my doctors told me that a double lung transplant was my only option. Now, here we are in 2025—almost four months post-transplant—and I am beyond grateful to be doing the things I love again. I don’t know anything about my donor, but I am endlessly thankful for their gift. If you’ve been diagnosed with Alpha-1, know that there is hope. And if a transplant becomes your last resort, don’t be afraid—there is life beyond it!
My son was born a month early and once we went home we were sent for follow up blood work based on his higher levels of bilirubin. After a couple of weeks of monitoring, the levels were not dropping. He was not jaundiced and therefore we would not have known any of this except for blood work. We were sent for an ultrasound, but everything looked normal. Following this scan and additional bloodwork, we were sent to the hospital for a HIDA scan. All tests were leading to biliary atresia. After receiving cholangiogram at 6 weeks old, it was determined he did not have BA thankfully. We started Ursodiol, multivitamins, and a special formula as we waited for a genetic test result. At 10 weeks, we found out he had Alpha-1.
He is now 4 months old and thriving. We currently have regular GI appointments and our next bloodwork in April. We are so thankful to have found this Alpha-1 diagnosis out so early to be preventative and able to monitor and be aware of any complications down the line.
In 2011, I brought the most beautiful little girl into this world. She was perfect as can be, but soon, she began struggling and was getting sick often. At 6 weeks old, we took her to the ER and asked about her looking jaundiced and being so ill to her stomach. They literally said she’s still too old to have jaundice and chalked it up to a stomach bug. We were sent home with instructions to follow up with a pediatrician if there wasn’t any improvement in 2-3 days. I called immediately. I couldn’t wait; I knew something wasn’t right. Her pediatrician saw her the next morning and immediately asked if I thought she looked yellow; I said YES! So, she ran labs. About an hour later, we received a call telling us to go straight to the hospital, not stop to grab anything and get there now. Our perfect little baby girl was in Liver failure. They ran tests and had the helicopter waiting to take us to California for a liver transplant. They finally figured out it was Alpha-1 and were trying her on some ursodiol to break up the bilirubin. It was an hour-by-hour wait-and-see game of whether or not she was getting a transplant. The longest, slowest hours while we waited for answers and directions. She ended up pulling through and just needed a Picc line for another 6 weeks.
Since learning about Alpha-1 we also found out big brother is also a ZZ. He is more lung affected, and she is still liver and spleen affected, but both are doing alright. They are on no current treatments except for asthma flair-ups and regular scans, etc. Sometimes, my daughter’s liver and spleen act up, and she needs some vitamin K and she regularly gets pain in both organs. We still take about 7 months at a time between appointments to check on them, but so far, there is no need for transplant or treatment. They are now 14 and almost 13. And we have a 2-year-old MZ little one, too.
My dad was diagnosed at age 72 after coughing up blood (from his varices). His pcp always told him he had bronchitis. He passed away two years ago this month at 76. He was liver and lung affected. I tested as a carrier.
I was diagnosed as a ZZ carrier shortly before my 59th birthday, uncovering the reason behind my unexplained shortness of breath and emphysema, despite being a non-smoker, leading an active lifestyle, and living in a rural area known for its clean air. This diagnosis shed light on years of breathing difficulties that became acutely noticeable during masters swimming competitions. It reached a pivotal moment when, just 50 meters into a 2km swim, I found myself struggling for air, prompting me to seek medical advice.
Residing in Switzerland, a country renowned for its affluent lifestyle and premium healthcare, it’s particularly disheartening that my health insurance does not cover the substitution therapy needed for my condition. With no formal care plan available, I’ve been left to find alternative methods to manage the symptoms and slow the progression of the disease on my own. My regimen includes walking, ice bathing, swimming in the ocean as much as I can, meticulously avoiding pulmonary infections, consuming anti-inflammatory foods, and focusing on enjoying life despite my health challenges.
Adding to the complexity of navigating this condition is the understanding that my willpower alone is insufficient to overcome the physical limitations it imposes. This realization has been difficult, especially given my competitive swimming background, where mental fortitude played a crucial role.
The diagnosis also retrospectively explained the early deaths of my mother and grandmother, as my parents passed away without knowing they were carriers of the condition.
Hello, I am a ZZ diagnosed 20 yrs ago. What alternative treatments are you currently using?
Marilyn mzack614@comcast.net
I was diagnosed in 2017 as a ZZ alpha at 58 years old. I am lung and liver affected. It was just by chance that when I went for my annual physical and was coughing that my PCP questioned why I was coughing so much and fortunately sent me to a pulmonologist who diagnosed me with alpha 1. I first saw pulmonary and recently began seeing hepatology when I found out my liver was now affected. I have wonderful doctors who monitor my condition closely. I definitely cannot do the physical things I could do in 2017, for example I did two half marathons, which has been frustrating but in 2023 I worked towards a goal and walked a 5K at Disneyland in January 2024. This was a huge accomplishment given my decline physically. Looking back I now understand why I had so many “colds” and bronchitis that took forever for me to get well. I am currently participating in the A1BC Biomarker research study and am so happy to be able to help give back. No one in our family had any idea that we had this genetic disease until I was diagnosed and so the whole extended family has been tested. I am the only ZZ. I am so thankful for the Alpha 1 Foundation, for the education days and for all the support out there as it truly helps!
A little more than 2 years ago, at age 65, I was diagnosed as having AATD, the same as my 2 little brothers had been. I was shocked to learn that I wasn’t just a carrier, as I was led to believe some years ago when I was first tested, but a full-on ZZ liver-affected Alpha-1 patient, the same as my baby brother. Of course, I wanted to learn more about the disease, and so I sought to find the best doctors near me who could set me on a healthy path to take care of myself. Thankfully, I’ve never been much of a drinker (alcohol), and I quit smoking at age 32. I found my specialists out of UF Shands in Gainesville, who immediately went to work testing me thoroughly as well as immunizing me against further liver diseases. When all of my test results came back, the liver was showing F4 Cirrhosis, but my lungs were still strong and are still to date. My doctors suggested that I might want to try out for a clinical drug trial, which is now in its 3rd phase. This trial is for a drug to help liver-affected patients by repressing the bad proteins that are backing up in our liver, causing further damage. I have passed all of the testing and will receive the first dosage on March 7th. Yay!! I am feeling positive and hopeful that the affected AATs will soon have a drug that can help us.
I will keep my fingers crossed, good luck let us all know.your extended friend cindy.
Good luck! Please post your progress with the trial. I’m an IZ and was diagnosed age 58. Liver. I was transplanted less than 6 months later. I wish I had been tested much earlier and could have tried for a trial. I’m hopeful this works for you.
I was diagnosed with Alpha-1 (SZ) in 2019, just before my 24th birthday. It was only caught because my mother was being allergy tested, and the physician mentioned that she was a carrier for a rare lung disease. So me, and my siblings all got tested, and of course, I was the lucky one. I wasn’t at all surprised, if not a little relieved, since I had been battling asthma and so many respiratory illnesses all of my life. I have since been with an alpha-1 specialist and have even been a part of several clinical trials! I am so thankful to be surrounded by such great support groups that provide me with not only support but so much good information and education!
I was diagnosed with Alpha-1 Antitrypsin Deficiency just before Christmas in 2012. I always had respiratory infections since I was an infant. Nobody thought to even test for Alpha 1 until I saw a GI physician who tested just for the heck of it. I’m lung and liver affected. I’m certain my mom has it, too, as she constantly has respiratory infections. Her Mom did, too. Unfortunately, they have passed, and I couldn’t find out for sure. This organization has provided so much emotional and educational support over the years that I gave back by being a local Support Group Leader. The Alpha-1 Foundation means a lot to us!
I wasn’t diagnosed with Alpha-1 until I was 70 years old. I had been complaining of a shortage of breath since I was a teenager. It was always diagnosed as bronchitis, and little was done about it. When I was finally given the opportunity to see a lung specialist, Dr. Arguilar-Lopez, he did a blood test and started me on infusion therapy. He also provided detailed information to read, which encouraged my family to get tested. My daughter was tested as a carrier, but she has no children. My mother died of COPD complications, which we now think could have been Alpha-1. I wish everyone with any lung problems would be tested for Alpha-1.
I was diagnosed in 1995 with Alpha-1. Next month, I am turning 81 years old. In 2022, I was in the Hospital with a Lung infection. I was told that I couldn’t take antibiotics anymore. Since I stopped taking medication, I don’t feel like coughing; I don’t have phlegm. I live in my house and have hired a domestic helper. I have an e-mobile with which I can shop and visit friends. My lung volume is 24%. I get five bottles of prolactin every week. I get my lunch from a restaurant in the vicinity
In 1996, I attended two Alpha-1 conferences in Nashville and Washington. For 13 years, I had a supporting group with up to 60 Alpha-1 patients. Ich war Mitbegründer von Alpha-1 Deutschland und 2005 Mitbegründer von alpha1 Europa in Dublin – Ireland. I was a good friend of John Walsh. I live 30km from the Rhine and France and 40 km from the Black Forest.
Walter, you are an inspiration. I was diagnosed in 2002. How long have you been receiving Prolastin?
Marilyn