Rare Disease Day takes place on the last day of February each year. The goal of this day is to raise awareness and generate positive action for the rare disease community.
On February 28th, 2023, the Alpha-1 Foundation – along with Alphas, patient organizations, politicians, caregivers, medical professionals, researchers, and industry – will come together in solidarity to raise awareness of Alpha-1 Antitrypsin Deficiency as one of these rare diseases.
The yearly theme for Worldwide Rare Disease Day is “Sharing Your Colours,” highlighting the various different types of rare diseases in the world. Alpha-1 is 1 of over 7,000 rare diseases and is symbolized by the color purple.
Digital Toolkits
Orlando Alpha-1 Education Day
& Alpha-1 Awareness Walk
We invite all Alphas, family members, caregivers, friends, and healthcare providers to attend this Alpha-1 Education Day highlighting Rare Disease Day on Saturday, February 25th! Learn about Alpha-1 lung and liver disease, new and upcoming research, and more. To register for the event, click here.
We also encourage you to join us for the Alpha-1 Rare Disease Day Walk & Ice Cream Social at the Alpha-1 Education Day with special Rare Disease Day 2023 t-shirts available for purchase. All proceeds will go toward Alpha-1 programs and research. To participate or learn more, click here.
Rare Disease Day at NIH
Rare Disease Day at NIH will be held in person at NIH Main Campus (Natcher Conference Center) on Tuesday, Feb. 28, 2023, from 9 a.m. to 5 p.m. EST. There also will be a virtual live stream via NIH VideoCast with the event archived for replay afterward. The event agenda features panel discussions, rare disease stories, exhibitors, and scientific posters. The event is free and open to the public.
Hi! My alpha-1 story begins when I was 20 and my right lung completely collapsed from just lying on the couch. I ended up going to bed and asking my sister to drive me to the clinic because I thought I had a bad case of bronchitis. After getting x-rays and waiting for the dr I heard her say we need this patient to get to the ER immediately. I thought to myself, dang poor person, then the dr walked into my room. Long story short, I got a vent and sent home only to go back the next day and talked to another dr and had emergency surgery for a chest tube, but I sadly collapsed my lung with the chest tube in from throwing up. They did the surgery found my blebs and “fixed” that lung.
Fast forward 4 years, my other lung collapsed but not as severe and luckily I knew what needed to be done. Then when I turned 30 I got a complete physical because I was “old”. That dr caught more blebs on both lungs and decided to test me for different diseases, Alpha-1 being one of them.
I am now 39, I had my son last year and he’s healthy, even after doing therapy through my whole pregnancy.
I am ZZ. No one else in my family has it.
Greetings. My name is Charisse. I am 59, MZ, and diagnosed with Alpha-1 in 2018. I am severely lung affected and have other medical issues, including, but not limited to, ongoing and currently unidentified cardiac problems. Being an MZ Alpha has been quite the experience. It’s not uncommon to hear “you’re just a carrier” and other equally demeaning comments, when you’re quite sick and require medical care. I’ve had pulmonologists that would not accept me as a patient, refused to prescribe treatment; specifically Augmentation Therapy, and failed to act which delayed care. Unfortunately, this is common in the MZ world. After much research and support from some amazing Alphas, I found National Jewish Health in Denver, Colorado. I finally have a safe place where I’m not disregarded or overlooked. I chose to share this story because it is my reality. And maybe, some day, the awareness we so desperately seek can shed light on antiquated terminology, like carrier and promote inclusivity. Changing and updating this term will help insure that EVERY Alpha-1 patient receives timely and appropriate medical care. Thank you for the opportunity to tell my story.
My story began when I was about 35. That’s when I was diagnosed with emphysema by my primary care physician (PCP). Since I was relatively young and quit smoking years before, my doctor suspected several atypical causes. He ordered a few studies, one of which was an Alpha-1 antitrypsin (A1AT) deficiency test. My phenotype was found to be ZZ, and the serum level was about 40; normal being a range of 75 to 150. That was in 1993. My PCP referred me to a pulmonologist who ordered additional testing including an echocardiogram and spirometry. My lung function was measured at about 40% of expected. The pulmonologist confirmed the Alpha-1 diagnosis. At that time Prolastin was not readily available and I was placed on a waiting list to get the infusions. When it finally became more available (around 1998) my insurance dictated that I get the infusions at a local hospital’s infusion center, not at home.
Because Alpha-1 can be a risk factor for cirrhosis, my pulmonologist referred me to a gastroenterologist. I was later diagnosed with cirrhosis, and a few years after that with hepatocellular carcinoma, a type of liver cancer. All the while I was living my “Alpha Life” as I used to call it; getting infusions regularly, using on oxygen to sleep, and then progressed to oxygen almost 24 hours a day. I had several inhalers and a home nebulizer kit for a few years. Luckily I had a desk job that didn’t require physical exertion. I could continue to work while my disease progressed.
When the liver cancer was diagnosed, that put me on a ‘fast track’ for a combination lung-liver transplant. I was evaluated for transplant in 2004 at The Hospital of the University of Pennsylvania. At that time, only about 20 of these combination transplants had been done in the U.S. and I would be only the second person to have this kind of transplant at Penn Medicine. I was approved for the combination transplant in early 2004. By this time my lung function was just under 20%. The transplant team said it needed to be a combination transplant because separate, isolated lung or liver transplants at separate times would not be feasible.
I was called to the hospital in July of 2005, after waiting roughly 15 months, and received my new lungs and liver. I was in the hospital for 18 days before being discharged. There were a few ‘bumps in the road’ as some like to call them. I had pneumonia in one lung a couple of weeks after transplant and had to be re-admitted. A few days in the hospital on IV antibiotics cleared it up and I went home after about a week. There were some other minor issues in the 16+ years since my transplant. Things like ‘tweaking’ drug dosages, and the like.
My transplant has been very successful. I’m now almost 65 and shovel snow in winter (I live in NE Pennsylvania)! I have also taken up bicycle riding to keep my lungs healthy and get some good exercise. One of the side effects of a transplant typically is weight gain, and regular exercise is necessary – and so much easier to do when you can breathe!
I hope my story can inspire others, and help to allay your fears if you night be facing the prospect of a transplant yourself someday. Transplants can be very successful and life-changing, as well as long lasting – adding years of improved quality of life.
I am a 63 YO double gene-deficient and use supplemental oxygen. My father died at age 62 due to “emphysema”. When I was young I was fit and healthy. I was first hospitalised in 1999 with breathing issues. In 2001 I was told I had adult asthma and given a high dosed puffer”seritide 500″ this was questioned by another Dr in 2003 and I was diagnosed with Alpha 1and my FEV1 was 71%. In 2004 I declined to 49% in a 6 month period. Dr Peter Bremner tried to reverse this with large doses of prednisolone which didn’t work. I went on the disability pension because they didn’t think I would live long if I continued to decline this fast. When I stopped working I stopped declining rapidly. In 2016 I learned of treatment a weekly top-up of the missing protein which is not funded in Australia. I met with the federal Health Minster Mr Greg Hunt in Dec 2017 and still today we don’t have funded access to the only treatment for alpha 1 mostly due to the Thoracic Society of Australia and New Zealand TSANZ not supporting augmentation therapy “infusion therapy”. People in Australia have been denied treatment for 3 decades and continue to die early.
I am a 62 year old ZZ.
I was never athletic and the limiting factor seemed to be more my ability to breathe rather than strength. I went into the field of software engineering which requires no athletic skills beyond typing and moving a mouse.
In 2013, being curious about a family ancestry story, I decided to get myself DNA tested at 23andMe.com which was a relatively novel idea at the time. They promised a report on genetic diseases as well, and I was curious about a disease (not AATD) which seemed to run in the family on my father’s side. I didn’t read the details which would have told me it was not a disease they
tested for. I went for it when it went on sale for a lower price than ever. Not long before it was several hundreds of dollars.
After many weeks of waiting, I received my results. First thing I looked at was the ethnicity report, which showed diagrams of the chromosomes and their estimates of the ethnicity where portions of the chromosomes came from, in color. Mostly Irish, English and some German but no evidence of the family legend being true. Later I looked at the sections showing characteristics such as blood type, eye color (which they got wrong), whether I was likely lactose intolerant or whether I likely disliked cilantro. Then I looked at the genetic diseases to see if perhaps I was a carrier of anything (by then I knew my father’s disease was not tested for), they had a list of scary genetic diseases such as Tay-Sachs and Sickle Cell, and I felt confident after 53 years I would know if I had any but I may be a carrier of something. What was this? It listed something called Alpha-1 Antitrypsin Deficiency. And it said I had two copies of the bad variant so I wasn’t simply a carrier but I actually had it! How could this be? I never even heard of this disease!
So I spent the next several days researching this disease and it made sense. Often never diagnosed and often symptoms don’t show up until around the 50s. Oh dear, I was 53. I was supposedly sickly when I was born but I don’t know what the problem was, but I read many babies with AATD are born with jaundice. I was very unhappy, figuring that perhaps I had just found out how I may die.
By coincidence, I had an appointment with a pulmonologist a week later regarding the CPAP machine I was using. At the appointment, after the CPAP stuff, I asked my doctor “What do you know about this disease called Alpha-1 Antitrypsin Deficiency?
He replied “Why do you ask?” “Because I have it.” I answered. “No you don’t, you are too healthy.” he said. I got the sense he was thinking “oh great, a hypochondriac.” I told him about the DNA test, and he was totally amazed. He was an older man and wasn’t familiar with such things, despite being a doctor. He didn’t believe me that for $99 I could find out about something like that. Finally, and probably just to shut me up, he said he would order tests for Alpha-1. One was a blood protein test, the other was a medical DNA test. His tone of voice seemed to be a mix of amazement and disbelief. I was willing, since I wondered how reliable a $99 direct-to-consumer test really was after all? After all, they did get my eye color wrong!
Sure enough, days later he called me and said both tests came back positive, and he wanted to see me again. When I went, he was talking to a nurse about how I was the patient who diagnosed himself with a rare disease. His tone of voice seemed to be a cross between amazement and joking. He really was amazed, maybe bewildered, that I found out about this myself. He told me that even though he was a pulmonologist I was the first patient of his with Alpha-1. It is rarely diagnosed and seemed to fly under the radar a lot. He ordered a series of lung and liver tests, and I was now part of the Alpha-1 world. Fortunately the tests came back that I had little damage so far, so maybe I had dodged a bullet.
For several years, whenever I saw him (more often now than once a year for the CPAP) he’d joke about how I was the patient who diagnosed himself.
Since then I have become a DNA geek and had my siblings tested. I even “diagnosed” my sister with Alpha-1. (At the time 23andMe was in trouble with the FDA for speculative results such as saying a variant may cause a 7% increase risk of heart disease according to a study, so couldn’t offer disease results. But by then I knew how to find the Alpha-1 causing variants from the raw DNA data)
These days, direct to consumer DNA tests are quite popular, so my experience is no longer unusual, but at the time it was.
I’m an Alpha-1… I am 73 years old and have been pretty healthy all my life… If I had a couple of drinks… I suffered more than others.. When we hiked at high altitudes I was more out of breath than others, I tried cross country running and was always out of breath…. I’ve been lucky compared to some. I had a blood test, accidentally for Alpha-1. (There was another patient with the same name). I am a ZZ Alpha-1
Found out I had Alpha-1… The pharmacist that I go to said.. not wonder you have so many “odd reactions to things.” Luckily I’ve never smoked and generally don’t drink any alcohol.. I have bronchiecstasis. I guess I’ve been pretty lucky. It’s good to know there are reasons why my body reacted differently to medications, to other’s smoke and to some events… There’s a reason I am a bit weird… But generally fortunate to be pretty healthy.
Hello alphaSiblings!
My name is Jennifer I’m originally from Mexico with Scottish & French backgrounds.
I consider myself a Double Miracle (or maybe more)
My life was great beautiful and healthy until 2013 when a stroke hit me by surprise- no apparent reason- ( every single exam was done -neuroscience wise) my first big tremor was to wake up from a 4 days induced coma.
Lost in space and time asked to mum what had happened? If I was just coughing and with a extremely headache. Well the answer no one want to listen: you had a stroke, do not touch your head because you don’t have the temporal bone it had been removed so if your brain swollen again it will have space to do it. ….. turns out that 30+days in the hospital doctors digging and exploring the cause they somehow found out it could be genetic issue. That’s how I knew I’m an Alpha.
Here’s where I start to cry… ok, i have the rare disease BUT there’s no medicine in my country (back in 2014) so we tried everything EVERYTHING. I changed MDs several times because nobody knew what Alpha was. Until 2015 I found my lovely Eoctor, which he had helped me and we worked together to get Augmentation therapy.
Yaaayyy!!! 2018 I’ve got my first Zemaira into my body and let me share that was a beautiful feeling to be able to walk with minimal suplementary oxygen, From August 2018 until March 2019 I carry out all the expenses- until I fought for my treatment to get it via National health system. Months passed and obviously I had a backdrop to my life that took me into a 14 coma and 5 weeks ICU. Because i didn’t get my treatment on time and had a delayed.
Fortunately since September 2019 to date every week I had my 3dosis IV. I feel good must of the days and I have learned a lot about how Life works. I became a motivation speaker & I just released my 2 book called “LaLocadel12”
I learned about Alpha 1 in my 50’s while visiting my father who was having another part of his lung removed at the Cleveland Clinic . A doctor asked if I had it also. I laughed and said I didn’t smoke. After several years of denial, I was tested and found to be an MZ. Docs think we are all fine…but I am not. I have full blown COPD with the emphysema, asthma, chronic bronchitis, high blood pressure and other heart issues due to the lung situation and my bilirubin is always too high. I land in the hospital for 7 to 10 days if I have a cough from a mere cold. I am petrified of contracting Covid….and I am sad that my three children have high normal bilirubin as I did at their ages. It is hard being a zebra when everyone is looking for horses….
Hello! My story began. When I was forty and diagnosed with copd! I was tested for Alpha1 Antitriptsen Deficiency and was told I did not have it. Fast forward to 2015 we were on vacation and my lung collapsed and then it collapsed again a month later. I had a talc pluradiesis done on my left lung. I was retested for Alpha and it was positive. I did augmentation therapy while waiting for a transplant, that by the grace of God happened on September13 2016 I had a single right lung transplant. If you are in your forties and diagnosed with COPD or Emphysema you should probably be tested for Alpha.
Well we have just begun our journey my son was born 4/27/2020 and was diagnosed 6/24/2020 with alpha one we are still trying to learn and understand what our world is going to be like but he is a strong little boy who has already been through so much but the doctors continue to be surprised with his growth, and results.
Also very open to any advise!
Hello, my name is Matt. Sharing our life altering transplant journey. I say ‘our’ because it wasn’t just me, it was my whole family. It took a huge toll on all of them during the whole time. I hope by sharing this here with you, it may help others who are going through it too. This is our story of the first ever bi-lateral lungs and liver transplant at Mayo Clinic.
This odyssey began 5 years ago when I was 58. After getting an x-ray for symptoms of shortness of breath, my Primary Care doctor noticed something serious about my liver. She told me to seek a specialist immediately and have them look at it. They gave us the sobering diagnosis of non-alcoholic cirrhosis of the liver, with portal hypertension. It was caused Alpha-1 antitrypsin deficiency.
After monitoring it for many months, new symptoms began to surface. Shortness of breath, fatigue, dizziness, etc. We were referred to their pulmonary specialist. After tests they determined that the Alpha-1 had now migrated to the lungs infecting them too. Over the next few months it got worse and 24/7 O2 was prescribed. This went on for many months. We contacted Mayo Clinic in Rochester MN to pursue getting listed for both organs and eventual transplantation. They accepted us and we began the process with them and UNOS to get listed.
In November of 2018 test results were very poor, and they admitted us to Mayo to begin the wait for organs.
That wait for organs lasted nearly 170 days. Why so long? Due to the nature of the disease, BOTH organs needed to be transplanted at the same time. And, to make it even more difficult, the organs had to come from the SAME donor, had to be the SAME blood type, and be the same SIZE for the recipient. Very narrow criteria.
After 168 days of agony and waiting, I was woke up by at 5am and told that the organs were on the way. I was prepped for surgery at 4pm. After over 12 hours, the surgery was a massive perfect success. I spent about 3 days in ICU under 24hr monitoring.
After ICU, I went through other support areas and eventually PT. Then released about a month later. To this day I call it a miracle because I was only a few days away from being put on ECMO just before the organs showed up. If the organs didn’t show up when they did, I may not have made it. I was only 10% on lung function. Every day when I wake I thank God and the donor for my miracle.
I’ve written a book on this amazing journey. It’s on Amazon called ” A MAYO MIRACLE “. I wrote it to give hope and inspire anyone who is going through what I just did, and that THEY can do it too.
Hello! I’m Stacy, a 40 year old wife and mother of 3 daughters. I was diagnosed with Alpha-1 at 6 weeks old after my liver failed and I almost died. My entire life has been lived in a bubble. My parents were told I wouldn’t live long and they kept me close. I wished we knew more about Alpha-1 to give parents hope so they aren’t fearful that each flare up could be the last. Other than frequent infections I’ve been relatively in good health until I turned 39. My liver began failing. I was hospitalized and diagnosed with stage 2 COPD and Emphysema. This all happend rapidly within a year. I’m on augmentation therapy and stable but not getting better. I wish for a cure because it’s a surreal wake up call to have you lifestyle and job ripped away so quickly. The hardest part is seeing how it has affected my daughters watching me go through this.