Rare Disease Day

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 Alpha-1 content on your social media during the month of February @Alpha-1 Foundation #Alpha1Awareness #RareDiseaseDay
  • Attend upcoming Alpha-1 education events: the Alpha-1 Foundation hosts Alpha-1 Education Days, both virtually and in person. Explore our calendar to find upcoming events
  • Register for Rare Disease Day at NIH: held virtually and in person, this event features panel discussions, rare disease stories, exhibitors, and scientific posters. The event is free and open to the public. Register here 
  • Share your story: whether you or a loved one has been diagnosed with Alpha-1, we want to hear your story. Share your story and connect with others who may be going through a similar experience on the Alpha-1 Foundation’s Facebook page

Rare Disease Day Digital Toolkit

We Want to Know Your Alpha Story!

Comment yours below.

13 thoughts on “Rare Disease Day

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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!

  6. 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.

  7. 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!

  8. 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!

  9. 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.

  10. 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.

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