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Recommendations for ATM info -both cancer and non-cancer issues

pebee Member Posts: 96
edited February 2022 in High Risk for Breast Cancer

Hi Everyone - Made it ten years!

I had genetic testing and have an ATM variation. My mom was tested, she was negative, so we assume it came from my dad who passed from prostate, bladder and Acute Mylodica leukemia before he could be tested. Fun times.

Now, I am starting to get test results on my immune system - these blood tests have never been run before - and the results are low, shockingly low. On regular ATM boards for parents with kids with the two gene version, this is a common occurrence. My allergy doc who ran the tests is young and stunned. Have calls into the genetic oncologist - he is good with cancer - not so good with the other stuff. Genetics has been called too. My problem is that my doc system will not refer out of their group. And, they tend to be rather part focused - as in "I am the allergy person, I am the boob person, I do the cancer stuff". Getting them to tell me stuff about how this affects everything is not in their wheelhouse.

Does anyone know of a doctor or a center or website that has a holistic view of ATM mutations - the cancer and non-cancer stuff? All of it? Right now, my immune system is so low they are not sure if COVID or any vaccine or previous exposure has imprinted and given the rest of my medical history, I can believe it. Located in greater Chicago - willing and able to travel.


  • pebee
    pebee Member Posts: 96
    edited December 2021

    I am popping back in -

    I am now at 1 year of ongoing low-grade but life altering infections. I started Jan 2021 with a sinus infection that did not end until May. We are talking multiple ER and Urgent care visits, a number of docs, and nothing.

    Sinus surgery in July- that helped and then soon after a low-grade stomach and UTI. Now on my 5th round of that.

    Anyone - any suggestions for ATM docs or Immuneologists?

  • armom4
    armom4 Member Posts: 82
    edited February 2022

    Hi pebee. I can't answer your question because I can't seem to find anyone who really understands it either. My genetic counselor gave me recommendations for screening for cancers but didn't give me any info on the rest of my health. I've poured over research myself but it's all over the place. Here's what I think. ATM is responsible for double strand DNA repair. In people with AT, their gene never works right. So they have more severe issues. In our case, as carriers, we're only missing part of the gene so ours works sometimes. (Obviously, this is not scientific, just my interpretation.) In the research, it specifically lists ionizing radiation as a cause of DNA damage but there are others. If you look at the AT community, it's characterized by Ataxia, Telangiectasias (I have them), immunodeficiency (I'm having recurrent infections too), increased incidences of cancer ( Already had pre cervical and stage 1 breast. I'm 37.)

    So, although I can't find any good research into ATM carriers, I strongly believe that there's more to being a carrier than increased cancer risk.