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.

5 thoughts on “Rare Disease Day

  1. 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.

  2. 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!

  3. 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!

  4. 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.

  5. 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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