Alpha 1 Antitrypsin

[alpha1help]

hello! I’m looking for support/ information about Alpha 1 Antitrypsin deficiency. Does anyone have any experience with it? We are hoping to start a family soon but just found out that between my partner and I, one of us has the deficiency and the other is a carrier meaning any potential children would either have it or be a carrier. The one of us that does have the deficiency is well and has lived a normal life, this was found accidentally which lead to the other being tested. We are being referred to genetics but have been waiting 3+ months already and can’t find much information online. Anyone that has any experience with this deficiency please leave a wee comment. I feel like we’re facing this completely alone and we don’t know what it means for our future.

Sorry, I can't help but there is a Facebook support group which might be worth a try

https://www.facebook.com/groups/alpha1uksupportgroup/

Thank you @malarkyintheparky that’s really helpful!

Hi @alpha1help
I know a family that have this. Mother and daughters. Daughters currently do not have any issues but we know they have it. The mum is a heavy smoker and she does know that isn’t the greatest idea but she just can’t/won’t give up.

Hi, I’m sorry you’re going through this. My father in law had this. My DH is a carrier, I was referred to genetics clinic whilst pregnant with our first child (14 years ago) I was classed as low risk (not a carrier or deficiency). The genetics clinic were great (explaining everything) very reassuring and the discharge letter very clear in terms of risk percentage. My basic understanding was that it’s a deficiency in an enzyme your liver produces to protect the lungs. My father in law did develop COPD in his 60s but my DH does not seems to have any symptoms to be concerned about at the moment (he hasn’t been offered follow up or monitoring). I know this isn’t the same as your situation but I hope it helps x

sorry forgot to say FIL was a smoker also x

Thank you so much for this. That’s really interesting! I’m glad your husband has shown no symptoms so far. We have had an appointment letter through for the geneticist so will get to speak to them in July and hopefully they can guide us with our next steps.

@alpha1help how did you get on with genetic testing? A family member is just starting exploring this and has been told the wait may be up to 12 months.

I have this.

There are varying forms of Alpha 1 and i mean wildly varying.

Depending on the phenotype you have (if you have the disorder and not just a carrier) - it can affect you massively differently

Some Alphas have few symptoms if any. Some are prone to Kidney or Liver issues and some Lung issues

Some are slightly more prone to lung issues but some are pretty much 100% certainty - so it pays massively to educate yourself on what form you have. Especially before having children

This year, - age 36 - I was diagnosed with Emphysema, and Bronchiectasis

I have never smoked, and Drs did some genetic testing and I have Alpha 1 and another issue that means i was born with high cholesterol. I am the first one im my family to be tested

Then my son was tested, and he has both.

I would not advise someone who has Alpha to have kids knowing they have it and not having all the facts....the reason why is it is the absolute worst feeling in the world to know you have passed on a condition that has caused a life limiting illness in the rest of the family

My Mum had emphysema as did my grandad, his dad and my great great grandad and none made it to retirement age. I mean treatments are getting better all the time but i would 100% educate myself if i had known this before getting preggers