Rare Disease Day 2021
On February 28th, 2021, people living with rare diseases – along with patient organizations, politicians, caregivers, medical professionals, researchers and industry – come together in solidarity to raise awareness of rare diseases, including Alpha-1 Antitrypsin Deficiency (Alpha-1).
This year’s theme for Rare Disease Day (2021) is “Redefining the Word Rare,” focusing on the rare disease community and highlighting individual stories of people living with a rare disease. In light of the current global pandemic, this will be the first-ever all-digital Rare Disease Day.
Rare is Many
Rare is Strong
Rare is Proud
Rare Disease Day at NIH
Join us on Monday, March 1, 2021 for Rare Disease Day at NIH, which will be held virtually from 10:30 a.m. to 5:30 p.m. EST. The agenda will be full of informative and timely presentations, including from Robert A. Sandhaus, MD, PhD, Clinical Director of the Alpha-1 Foundation, and Alpha-1 patient Lisa Kosak.
Share Your #AlphaStory of Living with a Rare Disease Below!
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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.
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.
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 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.
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 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”