Are there any people here that have this extremely rare Alpha-1 Antitrypsin Deficiency like me?? I haven’t seen on mention of it other than what’s in my bio. I’m just curious because I am basically going through this alone. This is a terminal disease and there is no cure. However there is treatment but it will not make me better not will it change anything that has been damaged in the 46 years I’ve had this. I only found out 3 years ago because a wonderful Dr at JFK Hospital in Edison NJ went the extra mile and did the genetic test. Although he didn’t know much about it but at least he knew enough to test for it. I called my pulmonologist as soon as the dr released me from the hospital and he even said he’s heard of it but would have to do some research and get back to me about any options. 3 days later he called me and said the normal range in the blood is between 90-200 my numbers were 45. What he failed to do ( as per my Alpha specialist) that 45 had to be divided by 5 so my true blood number is 8 and was amazed that I was still alive. This is so rare that only 100K people have it so I really was blessed to have found a specialist in NJ. He’s not close to me but at least I don’t have to travel to another state. This disease causes Emphysema and COPD wether you smoked or never smoked. The fact I was a smoker progressed the disease. The only treatment he said was I would have to get IV Infusions once a week for the rest of my life. These infusions will NOT make me better nor will they change anything. The purpose of it is just to keep me alive. I’m so grateful for that!! So once a week my nurse comes over and gives me these infusions and it takes anywhere from 20-30 minutes. I’m feeling a bit overwhelmed lately because my family doesn’t want to talk because they don’t want to lose me. I understand that totally. What really breaks my heart is when I’m getting s cold my 16 year old daughter looks at me with that look in her eye as if to say “ is this the day my moms gonna die?” It really is heartbreaking. My mom passed the Z gene on to me which means she is only a carrier of the disease so she is considered an MZ. I then passed it to my daughter who is also an MZ and is only a carrier. Meaning neither one of them will die from this. However most of my family was quick to blame my father because he has very bad Emphysema and COPD but I needed to remind them he is a Vietnam Vet, worked in the Navy shipyards, was a plumber his whole working life plus he smoked for 55 years. As it turns out he doesn’t have this disease at all he is an MS. My mom feels incredibly responsible because she gave it to me, but I told her Daddy put the nail in my coffin because he carries the S gene and his S along with my moms Z made me an Alpha SZ which is the terminal one. I try and remain positive 90% of the time because where there’s life there’s hope. Who knows, as there is no cure for this or any treatment to make any changes for the better, some geneticist could find a cure for this or some kind of treatment other than just to sustain life in a year or so. So I keep it moving and do what I can and keep trying to find humor in any bad situation. My family really doesn’t appreciate my jokes but that’s how I cope with all this. So I apologize for this being such a long read but I’m just curious if anyone has been tested for this disease since it causes COPD and Emphysema in both smokers and non smokers. Has anyone’s pulmonologist suggested the Alpha test?? I ask because if you would like to be tested I can give the link to a research hospital in South Carolina that provides the kits and results free of charge. It’s easy to do. If anyone is interested please reach out to me I’ll be happy to help. Since my lovely Dr Jiang went the extra mile for me, I’d like to pay it forward. Plus the fact not only MY pulmonologist but a handful more I’ve spoken to all gave me the same answer “ I heard of it, but don’t know much about it.” That’s unsettling. See when you have a history of smoking and get COPD right away the blame the cigarettes. If you get COPD and don’t have a history of smoking they blame the environment. I’m willing to bet there’s a whole lot more people who have this disease but will never know because the majority aren’t being tested for it. So I asked this because 1. It would be nice to chat with someone who has the same disease I have and 2. I could maybe be of some help to anyone diagnosed with it, with links and support groups just to pay it forward. So if you think this disease may apply to you then next time you visit your pulmonologist ask him/her is it possible I may have Aloha-1 Antitrypsin Deficiency?? I’d love some feedback.
Hope you all have a great weekend and breath well.