Newly diagnosed..over the phone..no information given

Hi everyone,

I'm new here but have just received a diagnosis of a A1AD.

For context, I have had an undiagnosed illness for the last 4/5 years that has caused an extremely long list of symptoms..every single area of my body has been affected and I've had to stop work and education.

I had a series of bloods done about 6 months ago over the course of those 6 months, in which my ALT was raised. As a result, a rheumatologist suggested that a full liver screening is done.

The doc rang me yday and said "You have A1AD, I don't know how severe it is but I will write to human genetic testing and ask if they think your family should be tested"...that is all she said.

I asked what it meant, if it is something I should be concerned about in the immediate future and if there's anything I can do to help/reduce symptoms..but she couldn't give me any information..she just advised that I stop smoking immediately (which I have). I've now just got to wait a few weeks to hear back from genetics.

I guess I just wanted to hear from someone who has first hand experience with it. From what I've read online, I'm terrified but I don't trust that what I've read is 100% accurate to real life experience.

They don't know if that is whats caused all my symptoms, but is just something they've come across while investigating.

I guess I'm just feeling a bit..confused? And scared and unsure about what this could mean for me.

If the outcome is undoubtedly going to be negative, then please just don't tell me but if you can offer any words of reassurance, I'd really appreciate it.

I've spent the last 4/5 years terrified that whatever is plaguing my body is going to kill me and my quality of life these last 5 years has been really poor. I havent been able to enjoy my life for a long time, especially not pain-free and I'm scared that this is it for me now. I'm just always a little bit sad that this is how my life turned out, I wish I'd appreciated my life before illness.

Just want to know if I should be prepared for this to take up a lot of space in my life?

Thanks for any words of advice x

*edit - I have been riddled with anxiety the last few weeks, finding everything so hard. I just have a feeling something bad is coming hence why I've asked for only positive words of encouragement or reassurance..I don't think I can handle honest truths at the moment but I cant reassure myself because I don't know anything about this deficiency.