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Have you ever heard of this? Do you have it or know someone who does?

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ALPHA-1 ANTITRIPSIN DEFIENCY.

 

I am looking for anyone who knows about this rare genetic disease/disorder.

My 7 week old son was diagnosed at 2 weeks old. His phenotype is ZZ, He got one bad gene from me and one from his dad meaning we both have it or are carriers. This is the worst phenotype to have from what ive been told.

He had a liver biopsy last Monday and we are still waiting on the results. He still has jaundice pretty bad also.

 

 

I have a lot of information about it, but I would like to connect locally with someone who has this or has a child with it. Most of the forums online or FB are of parents/people from all over the world.

 

Let me know. :)

Thank you.

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TNLAMB should be able to help. Was tested for this years ago and she helped me.:-)

Thank you. Did you test positive for it? What made them test you?

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No. It was negative. My COPD is severe. Only 29% lung function. I had a lung abcess years ago. And at that time of testing my lung had collapsed.

Edited by kim404

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No. It was negative. My COPD is severe. Only 29% lung function. I had a lung ashes years ago. And at that time of testing my lung had collapsed.

Wow. I hope things look up for you.

 

I really hope I dont become severely lung or liver affected. Ive had chronic bronchitis since 16. And high liver enzymes since about 19. It would make sense for all of my family history though. Mostly lung issues on my dads side.

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Hi, I have alpha 1, I am also a zz and very severe, but am lung affected and so far not liver affected, this is very common in adults and as you now know more babies are liver affected. I don't know a lot about the liver type, except for the heartbreaking stories such as yours.

You can find more information at WWW.alpha-1foundation.org.

I urge you to make use of all resources available as soon as possible. Your baby may be eligible for a liver transplant and if that is the case you will want to get him listed asap.

Totally unfair that any baby should have to fight this battle. Please keep me posted on how he is doing and I will keep him in my prayers.

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Oh, my goodness - my heart just breaks for tiny babies to have difficulties, and for their parents as well. OP, I will keep you precious treasure in my prayers. :wub:

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Hi, I have alpha 1, I am also a zz and very severe, but am lung affected and so far not liver affected, this is very common in adults and as you now know more babies are liver affected. I don't know a lot about the liver type, except for the heartbreaking stories such as yours.

You can find more information at WWW.alpha-1foundation.org.

I urge you to make use of all resources available as soon as possible. Your baby may be eligible for a liver transplant and if that is the case you will want to get him listed asap.

Totally unfair that any baby should have to fight this battle. Please keep me posted on how he is doing and I will keep him in my prayers.

Thank you so much. I had never heard of it until he was diagnosed. And it took a special top pediatric dr in atlanta to diagnose it after millions of scans and tests. It breaks my heart that my first born has to be sick and to know I passed it to him upsets me. I got my blood drawn today to find out what phenotype I am. It makes sense now on my dads side of the family. Alot of lung issues. As well as my fiance side. I have checked out the alpha 1 pages and am apart of groups on fb as well and am getting a lot of support. I to have read all of the stories online about babies with zz and its so sad and scares me. Im on edge until we get the biopsy results back this week.

 

What age were you diagnosed if you dont mind me asking?

Oh, my goodness - my heart just breaks for tiny babies to have difficulties, and for their parents as well. OP, I will keep you precious treasure in my prayers. :wub:

Thank you!

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I came home to type this because I know you are scared to death. I wish I could allay your fears and tell you everything is going to be alright but all I can do is tell you what I know.

I was 44 when I finally got diagnosed, I had been having lung problems for about 15 years at that time. I had just buried my dad, and my uncle, and before that two more uncles and my grandmother, all of lung disease. I told my pulmonary doctor about that and finally a light bulb lit up, he had me tested that day. I went home and read about it, and when I went back I recognized the speech he was telling me as what I had read in an article. "What to tell your newly diagnosed Alpha 1 patient," I was his first alpha, and I was touched that he had memorized that speech for me. But then it dawned on me, "My kids?" I just remember him nodding his head and saying something about them needing to be tested but I had already totally flipped my switch, my first panic attack ever. I woke up with an iv in my arm a couple of hours later, still had tears rolling down my face. Whatever life throws at me, I can take it, but Lord please, not the children!!! So I can imagine how scary this is for you and what you must be going through. I'm so sorry.

One of my babies was born severely jaundiced, if I had known then what I know now I would have been terrified. He is fine now though! He is almost grown now and very healthy. I know it's hard but please try to shake off the guilt you are feeling. You had know way of knowing, and it's not because of anything you did wrong. More than anything right now you really need to gather your resources, physically and emotionally, so that you can be strong for him.

There are some very scary stories on the internet, but there are also some good stories. Somewhere out there is a lady named Jenn, who has two little girls, both zz, and both are doing just fine. I will try to find her website for you. I pray that your baby does the same and grows into a healthy young man.

Let me know if there's anything I can do to help other than pray, and like I said please keep me posted on how he's doing. If I can't answer your questions, I can get you in touch with someone who can. My heart goes out to you and your sweet baby. Good luck and God bless.

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