Anyone got any thoughts/advice/experience on testing siblings for A1ATD?

It seems to be a bit of a moral/ethical/clinical/delete-as-appropriate minefield, at least when it comes to our genetic counsellor and GP, with us stuck in the middle really not sure what is best for our children. Would be great to know whether others have been in a similar position and how you resolved it! Thanks!

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  • Hi my 3 year old son Ben was diognosed in july this year, we were advised by the specialist at Birmingham hospital for myself, husband and 1 year old to be tested, Myself and my husband are both MZ Carriers and currently still waiting on results for my 1 yr old.

    We do have an appointment set up with genetic counselling mid october and have been advised by dr to ask if our parents and siblings need testing.

    In my opinion i would want to know, hope you get it resolved

  • Thanks, that's really useful. Our youngest is the one affected and as the elder two have never shown any symptoms our genetic counsellor is really against them being tested (her view being that they should make the decision as adults when they would need to be careful about alcohol or smoking). Our concern is that A1ATD can go undiagnosed for years (no one would know our youngest had anything wrong to look at him now his jaundice has cleared) and that they won't have all the careful monitoring and vit supplements etc to keep their livers healthy if we don't know their status. I think I'll speak to our consultant at our next appt or maybe someone at the conference will be able to shed some light on this...

  • Hi, my son was diagnosed with A1ATD when he was a couple of weeks old. Our consultant and genetic specialist advised my husband and myself to get tested and we were found to be ZZ carriers of the gene(total shock to us!). Our parents went on to get tested and one of each of our parents were found to be carriers

    We have a daughter who is 3 yrs older than my son but we were advised not to get her tested as it can affect life insurance and getting a mortgage in later life if you have ever been tested for genetic illness -even if you test negative. We took this advice and my daughter is now almost 18 and has never shown any symptoms but she is now saying she would like to get tested so she knows for the future. Luckily she doesnt smoke and drinks very little alcohol so I think the advice my son has received has helped her.

    My son is almost 15- his liver disease is quite advanced but lives life to the full to the best of his abilitiy

  • Thank you both for sharing your experiences; I really do appreciate having some different perspectives on this issue and am particularly grateful for your openness about what is such a tricky, personal and emotional decision to make. Our son (our youngest) is only 11 months old and even though he was diagnosed when he was only 8 weeks old, we are very new to Alpha-1 and the multitude of issues it throws up. Quite by chance, our geneticist called at the beginning of the week to say she could support testing A1AT levels in our two other children rather than full genetic testing. That would give us an indication of their likely status - perhaps a compromise solution? Obviously it doesn't provide any certainty though. I would love to see into a crystal ball and know that the elder two are fine, and that my youngest will be one of the lucky ZZ kids who never experiences any problems, but I know that's just not possible with this condition. It is heartening to know that you both have children who are able to enjoy life as best as they can despite A1ATD, and that your son, edsmum, has been able to receive a liver transplant in the nick of time. Best of luck to you both - it would be great to meet up at the conference to say that in person.

  • Hello! Just checking in, great to see you both at the conference. Hope you and yours are all doing well. Lisa