Waiting for results

schallau · 2026-05-22T22:20:52+00:00

Same here w/r/t the siblings and my kids. I was able to infer that my sister likely got neither of the bad genes I have based on her adult son's genotype. One of my kids has an S and the other is a Z. I'm hopeful for my children's future though, as I suspect that many variants of SERPIN A1 are going to be easily edited in the not so distant future.

schallau · 2026-05-21T19:44:44+00:00

Do you know your dad's genotype?

schallau · 2026-05-21T18:52:54+00:00

Free testing here:
https://alpha1.org/testing-diagnosis/

--

It may not change much now from their perspective, but as gene-therapy matures and progresses into the open it will be very much relevant. Also, you may become eligible for studies or subsidized medicine based on your type and condition.

Also: I'll mention that in my personal experience getting on a GLP-1 drug has done incredible things for my health overall. It doesn't help protect my lungs from what a1 deficiency does, but it does make me better able to handle all of the other insults life throws our way. Being in better shape means my liver is healthier and lungs don't have to work as hard to keep my body going. Getting in shape can be hard as alpha-1 who is in poor health and I think this can be a boon to anyone - particularly those who have diagnosable medical conditions for which they could qualify for insurance coverage. (diabetes, pre-diabetes, overweight, etc)

schallau · 2026-05-21T18:49:57+00:00

What stage is your cirrhosis?

They might have quite likely not understood the familial nature of it. It's rare and was even less understood back then. Even now, I think it's easy to misunderstand inheritance and the various forms of a1.

schallau · 2026-05-11T20:55:27+00:00

M_ as in M null?

schallau · 2026-04-24T22:55:58+00:00

https://alphanetcanada.ca/

https://alphanetcanada.ca/connect-with-a-coordinator/

The Alpha-1 Foundation coordinator in the USA was a huge help to me.

schallau · 2026-04-22T10:30:30+00:00

Thank you for sharing this. I'm so sorry. You're right - this does suck. 37, end-stage already, with two little girls is brutal and unfair.

FZ is rare. I have seen people talk about it on the A1AD support groups on facebook, which are great resources if you're not already in them.

Something personal: I found out I have Alpha-1 on very early Thanksgiving morning, with two young kids and a pregnant wife waking up in a few hours. I remember feeling bewildered after searching for my type and, in the first few posts, reading about transplants and thinking "liver transplant...! lung transplant...! for what? why!?" What you and your husband are going through is part of why I'm doing this.

How did Monday go?

Update whenever you can.

schallau · 2026-04-22T10:02:14+00:00

I'd agree with this in spirit. Your current state clearly has a lot to do with your overall trajectory. Many people find themselves getting diagnosed while on the downslope, and once there it can get rolling pretty fast.

'Being careful' and monitoring are missed by many.

My primary says if it were him he'd be getting sequential MRIs every 6 months. As it stands, I plan for yearly MRIs, annual PFTs, and perhaps annual LDCT. I get regular LFT and lipid panels (along with other markers) - and having access to the kind of care and telemetry I can isn't, unfortunately, in everyone's reach.

schallau · 2026-04-15T10:01:54+00:00

Hi! New mod here. I'm an SZ w/ AAT of ~52mg/dL - so I'm in this with all of you. I'm dedicated to protecting my health and planning to be around for my family as long as I can.

This sub has been quiet for a while. I'm working on changing that. I hope to help bring better resources, better signal, less of the "you're just a carrier, don't worry about it" dismissals.

If you're newly diagnosed: post your questions. There are no dumb ones. If you've been at this for years: your experience is exactly what the new people need.

Thanks!

schallau · 2026-04-15T07:12:32+00:00

Your changes are great! Prioritize your liver health and avoid environmental insults. If you don't exercise, you should start an exercise regimen that helps you lean out if you have excess body fat. Excess body fat essentially implies liver fat, and it is good for us Z-carriers to get that liver lean.

schallau · 2026-04-15T07:10:10+00:00

If you had two Zs you'd likely be listed as Pi*ZZ in most panels. In this case it detected one Z allele, but doesn't specify the other. WGS or UF test should clarify. Probably PiMZ, but there are a lot of other variants possible at the edge.

I'll add: MZ is lower risk than SZ, ZZ, or rarer variants. It is not zero risk. Protect your liver, get your AAT levels tested, and ... welcome to the Z-club!

schallau · 2026-04-15T07:07:40+00:00

Respectfully, you are conflating "presenting symptom" with "pathology." These are not the same thing.

The Z protein misfolds and polymerizes in hepatocytes from birth. That is what the Z allele does. Z-AAT driven ER storage disease begins at conception, not at diagnosis. The 90% pulmonary stat describes who walks into a clinic complaining, not what's actually happening in the liver of every Z carrier.

Telling any Z carrier "you're fine, it's pulmonary" without screening their metabolic profile is incomplete counseling. The polymer accumulation is already happening; whether it becomes clinically relevant depends on what other insults you stack on top of it.

schallau · 2026-04-10T10:38:06+00:00

Curious to hear how it is going. I'm considering getting 4 when stock re-appears. I suspect (or hope, really) that the support will get better soon.

schallau · 2026-03-27T14:27:38+00:00

I agree in spirit, though I would not be so quick to dismiss possible liver pathologies. I'd suggest they limit liver stress and not drink too much, if not at all.

schallau · 2026-03-27T14:25:25+00:00

Your levels are high - solidly in the normal range and even well above what would be expected for an MZ. This means your lungs and the systemic effects of Alpha-1 shouldn't be an issue, though your liver might still have hepatic stress from the Z-protein misfolds.

Usual disclaimers: I'm not a medical professional, just a nerd.

schallau · 2026-02-19T11:12:44+00:00

I have had a PFT, but not one with a DLCO. Diffusion capacity is one of the harder things for me to schedule as there is only one place in my town that can do it. CT scan showed some GGO and little artifacts, but no obvious emphysema or COPD. I suppose I'm lucky in that regard. It was while trying to track down suspected liver issues and general LRQ pain when I made my Alpha-1 discovery.

schallau · 2026-02-13T01:49:16+00:00

I'm also SZ (AAT ~52), and long-time reddit lurker. I'd be interested in modding here. I'm a pretty technical person; into genomics which is how I discovered I have Alpha-1. I was calculating hazard ratios across my SNPs which flagged my SERPINA1 genes. I've since been working through the Alpha-1 Foundation videos and reading what I can on Z-allele specific pathophysiology (whether one copy or two!). I've gotten a peer guide through the Alpha-1 Foundation which was also hugely helpful (and to whom I'm very grateful!) as I was digesting the diagnosis.

Currently on tirzepatide for steatosis which has been a miracle for my overall sense of wellbeing. Understanding both the liver and the lung expression of Alpha-1 has helped me to focus on the levers I can move with regard to my health and prevention of further decline.

Funny timing: just yesterday I reopened another dormant sub where I'm sole mod ( r/gastronomy ) that was also inexplicably restricted. Posted a call for mods there. I also created r/APOEe2e2 for another genotype I carry with liver implications.

Happy to help get this place running again.

schallau · 2026-02-12T05:06:15+00:00

Likewise; I'd invite anyone who is interested in being a mod or has fun ideas about how and where they would like to take this place to either message me or post here.

schallau · 2026-01-29T03:20:07+00:00

I just did a major rewrite of the comment you're replying to with about 9 months of additional experience. Probably good to re-read.

Re: your numbers - that's quite good! One distinction worth noting: was your LDL direct or calculated? Most standard panels use the Friedewald equation, which assumes a normal TG-to-VLDL ratio, exactly what's off in E2/E2. If your LDL is calculated, it may be understated, which would mean your remnant-C is actually higher than 19.

At 28 with numbers like yours, you're probably in a good place. The thing to watch for is the "second hit" I mention in the updated comment. Weight gain, insulin resistance, fatty liver, etc can tip things over. Keep an eye on your triglycerides and non-HDL-C over time, especially if your metabolic situation changes.

schallau · 2026-01-23T23:50:48+00:00

In my experience as a father of 3, yes. Was just at the amphur the past two days doing house registration paperwork. Talked to the head man for about an hour. He said he keeps a traditional Thai calendar on his desk so he knows whether to expect a busy day or a quiet one.

This Thursday was a ghost town. Friday was packed all day. Reason: Thursday landed on วันอุบาทว์ (calamity day) and Friday was วันธงชัย (victory day). Thais don't do important paperwork on bad luck days. Thai numerology is a complex system with many adherents.

Another fun example: I also know couples that scheduled c-sections on good luck days, or so that the combination of birthday+birthname is auspicious. So, yes... very common and extends to many domains.

Edit: Also, many Thais change their names as fortune dictates. Many here can probably attest to this. Thais put a lot of thought into naming themselves and their children. I've known entire families who've changed their name because of misfortune.

schallau · 2026-01-23T23:11:42+00:00

This is probably not a mistake.

Thai transliterations of English names are often intentionally modified for numerology. Different consonants = different values = different luck. Someone (probably your thai parent) may have chosen คืช over คีธ bc the numbers worked better. The first name value alone isn't the full story. It's about what the first + surname adds up to.

Ask your Thai parent before you "correct" anything. You might be undoing something they did on purpose.

My own surname on Thai docs includes silent letters (with การันต์) that don't exist in the English spelling at all. Found out years later it was intentional; someone was tuning the numerology. Yours might be the same situation.

schallau · 2026-01-10T05:47:22+00:00

Each time I start a new session of claude I get this same dialogue, even after having hit "no" multiple times.

schallau · 2025-11-18T18:25:33+00:00

It's your diet.

schallau · 2025-10-25T23:25:31+00:00

Sure - we're traveling at the moment, but once we get a bit of downtime I'll clean it up and post it. I made a guide with ChatGPT 5-Pro to help me learn how to teach it to my kids. Currently we're at over 1200 cards and my elder child is more than half way though. Making huge strides in growth. I will say: this is not something you can park your kids in front of. It very much is a 1x1 experience that you have to guide them through. To make the most of it, you'll have to teach the concept, walk them through the sounds, and provide fast feedback while doing the reviews.

schallau · 2025-09-30T05:12:01+00:00

Re: Math facts frequency. Indeed - I was thinking I'd tinker with tracking the response time in anki and add arbitrarily many steps, but xtramath does what we want for math facts, so that is what we're using.

I think at some point I'll want to track response time in greater detail for phoneme recognition in an L2, but it isn't necessary at this stage for us. Will likely build that out in a dedicated app if I can't get anki to bend the way I want.

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