I am supposedly an AATD carrier (PI*S). However, I have always had problems with respiratory problems. When I was about 35 yo I was diagnosed with intrinsic asthma (all allergy tests were negative x3). I am still producing some antirypsin. However, I now have NAFLD, and irreversible COPD. I am now 59, and feel like none of my health providers will listen to me. I have never smoked, but both my parents were heavy smokers. I feel like I have the actual disorder.
You seem to. Carriers often do have severe and sadly often untreated or undertreated symptoms, illness, and disorders. When the disorder is severe, and a person is a Pi-ZZ, it's hard to ignore, yet an MZ, SS, MS, etc. can have just as severe signs and symptoms and additionally have not only lung disease, but are higher risk for liver failure as well. Yes, some doctors ignore this as they simply don't keep up or are simply lazy. In these cases, patients suffer, usually for many years, as damage is done to their bodies wind up more severely damaged, as they are neglected. Sometimes, a doctor will make an error and give an Alpha-1 medication that isn't compatible with Alpha-1s, and it may cause acute liver failure, which can cause multi-organ damage and/or failure. If your doctor isn't listening to you, find another doctor. If you aren't communicating with your doctor well, or he or she will not refer you out to a specialist for the care that Alpha-1s require, find another doctor! You might contact the Alpha-1 Foundation and get an appointment with the specialist nearest to you. Sadly, there are many doctors who are ignorant and need an education. I hope you get the care you deserve. The Alpha-1 Foundation is a great resource, and although the liver and lung issues are the most talked about, there are other organs affected as well. In children, there seems to be swelling in the eyes, sometimes around the retinas, which can result in blindness, there are chronic pain syndromes that are rarely addressed, and so on. More research needs to be done.
I am a carrier as well. MZ. I always had wheezing and lung compromises all my life. You basically have to be your own doctor. Find an open minded doctor. It’s hard I know. I hope your doing well. 🙏
I am supposedly an AATD carrier (PI*S). However, I have always had problems with respiratory problems. When I was about 35 yo I was diagnosed with intrinsic asthma (all allergy tests were negative x3). I am still producing some antirypsin. However, I now have NAFLD, and irreversible COPD. I am now 59, and feel like none of my health providers will listen to me. I have never smoked, but both my parents were heavy smokers. I feel like I have the actual disorder.
You seem to. Carriers often do have severe and sadly often untreated or undertreated symptoms, illness, and disorders.
When the disorder is severe, and a person is a Pi-ZZ, it's hard to ignore, yet an MZ, SS, MS, etc. can have just as severe signs and symptoms and additionally have not only lung disease, but are higher risk for liver failure as well.
Yes, some doctors ignore this as they simply don't keep up or are simply lazy.
In these cases, patients suffer, usually for many years, as damage is done to their bodies wind up more severely damaged, as they are neglected.
Sometimes, a doctor will make an error and give an Alpha-1 medication that isn't compatible with Alpha-1s, and it may cause acute liver failure, which can cause multi-organ damage and/or failure.
If your doctor isn't listening to you, find another doctor. If you aren't communicating with your doctor well, or he or she will not refer you out to a specialist for the care that Alpha-1s require, find another doctor!
You might contact the Alpha-1 Foundation and get an appointment with the specialist nearest to you.
Sadly, there are many doctors who are ignorant and need an education.
I hope you get the care you deserve. The Alpha-1 Foundation is a great resource, and although the liver and lung issues are the most talked about, there are other organs affected as well. In children, there seems to be swelling in the eyes, sometimes around the retinas, which can result in blindness, there are chronic pain syndromes that are rarely addressed, and so on.
More research needs to be done.
I am a ZZ carrier since I was 42 am now 62. I need to know where to go to hear a video of a Alpha 1 breath sounds at. Thank you ❤
I am a carrier as well. MZ. I always had wheezing and lung compromises all my life. You basically have to be your own doctor. Find an open minded doctor. It’s hard I know. I hope your doing well. 🙏