Healthy my entire life. In 2018 I was at work and suddenly felt like I was shot in my stomach. Dr said, I had deep vein thrombosis, further test showed I had cirrhosis and A1AT. My heath diminished rapidly, it was horrible. I received a Liver Transplant, woke up and instantly felt better!!! I now feel great again
Omg thank you for existing! I've been trying to understand this for days reading in text book and I have been so confused! You clarified EVERYTHING in 8 minutes! Wow! Thank you!!!
Thank you for explaining. I'm about to be discharged from the military and just NOW got diagnosed with this. They just kept telling me I was being lazy, the same with some of my other airmen who had ACTUAL issues.
what’s been ur symptoms? I only got here because my sons a1-globulin came back decreased. 2,4 instead of 2,9 and read it’s mainly caused by this? 🤷🏻♀️
I was born with this and i’m 15 now. I have been completely healthy my entire life tho and this hasn’t affected my life at all. I don’t even notice that I have it so i’m lucky.
Had a abnormallaity in a blood test a month ago, got a second blood test for this couple weeks ago. Dr called an I'm going in on Friday, I'm concerned there is a history of lung disease in my family. I dont know what this means long term. I dont expect any replys, just felt like a good place to vent.
any updates on anyone? Appreciated. My son (17) just had his bloodwork done… mainly because of hairloss…. bloodwork turned back normal except decreased DHT and decreased a1-globulin (which can be caused by AA? )
Thank you I am going to have my lung doctor check on this because I was just diagnosed with copd and asthma and I have been smoke free for 23 years. I understand the environment can cause copd
I'm asymptomatic so far, but I do have it. Whenever I get the flu it will almost always result in me getting bronchitis or pneumonia. I'm 22. My grandmother had it (and died of it), my aunt has it, and so does one of my cousins. My cousin and I also have IBS thanks to A1AT. None of us have liver problems thanks to us not having A1, but we are all monitored just in case.
@@nenadsima7105 does the hands hurt and don’t draw up but hurts very bad when I write! I have A1AT and just found out last year , exactly 1 year and I’m on oxygen 24/7 and my genotype is ZZ
@@alsson3137 if you don’t mind me asking how old are you? I haven’t had my infusions yet. I can’t wait until I do but I talk to someone I met on TikTok she’s in Florida. She does her infusions at home
My father died of emphysema and blamed it on smoking. He also died at the age of 52 😢. Marine and stationed at call L in N Carolina. Mother also passed away young at age 62, sister conceived and died at 3 months there. Brother conceived there and passed at age 48. I wonder if they all had this deficiency?
Lmao me too. I started to be interested in diseases when I was writing the ‘sick kids’ story on Wattpad 5 years ago and now I incorporate diseases in every story I write
Some of us are here because we have A1AD. This is a difficult disease to understand, when you are just getting diagnosed, or were diagnosed before google/RU-vid. I’m 47 and was born with A1AD but was adopted and it wasn’t explained well to my parents. I saw a dr 25 years ago who basically just told me not to smoke or drink and that I should be okay until I was into my 40s or 50s. 🥴 I’m the past 10 years, I’ve had additional medical problems arise and it all goes back to A1AD and fibromyalgia.
My Mom was diagnosed with Alpha-1 Antitrypsin Deficiency! At 47 years old she was on full-time oxygen and died at 52. I was tested for this deficiency and Thank God, I wasn't missing the Gene, I'm okay ( I do have mild COPD however, because of the environment)...It was hard to watch her suffer, not really being able to help. It was like she was drowning, no air over and over for years! Her lungs just didn't have the elasticity to function! R.I.P. Mom
Genetic (imo) testing (mouth swap) is best. Grifols offers it for free in germany. AAT levels in blood can be elevated because of acute infection, therefore CRP should be tested at the same time.
Since less oxygen ia supplied due to the effects on the avioli, does the heart become more stressed as it attempts to move the lungs more? Can it cause side effects in the heart?
I have A1AD and my genotype is SZ 75. In 2022 my FEV1 was 87%, so normal. This past July my liver enzymes were concerning and my Rheumatologist is having me do bloodwork every 6 months now.
I just want to say there’s 2 ways you can have this “alpha-1” can be a carrier or have it. My aunt died at age 42 bc the alpha one was effecting her after having a Brian angerizium-don’t quote me on how to spell that- and also my baby cousin just died at 3 months old due to fluid build up in her lungs “another act of this rare genetic disease” So my daughter was born today and since I’m a carrier and could easily pass it down to her... I’m making her get tested the doctors thinks it’s best to do a family tree but I don’t think that’s 110% accurate!! And I know the blood test are I just don’t think I need to waste time and see what my family trees gonna turn out to be. I wish everyone here with this rare disease good luck and wish everyone the best..!!!
I have it (SZ) and when my triplets were born, they tested them all in the neonatal unit in the hospital. Only one was a carrier and other two were not. I would HIGHLY suggest having your baby tested
Oof. Just found today that 1. This genetic protein deficiency exists. 2. I have this protein deficiency, and 3. I have liver disease. Now i just have to wait to find out the next step. Probably biopsy. Fun times 😅
The liver biopsy for me, was an easy recovery. They do a small probe and it’s a punch biopsy that takes about the size of a pencil section out. A small stitch and steri stips to cover.
My baby is now one month old and she was born with jaundince her level was 17 by day 2 after that we did phototherpay so the indirect started to reduce but direct started to raise we were in concussion why it was rasing finally the direct was 5 and indirect was 7 doctor told my baby may have some liver disease did scan and took many test virus but everything was normal... We couldn't find why the direct is high last week we took the blood test again now the direct is 4.8 and indirect is 2.0 total 6.8 .. Direct was reducing slow... They they finally did nuclear scan it was also normal then they did ggt test it's normal.. At the end they did A1AD test the normal range was 145 to 270 it's mentioned but my baby is having 111 is it normal or not?? Doctor told it may be a problem of low level the jaundince was there still now.. Is it normal or not will it get cured plz help
