Enough is enough

When is a family history of disease considered ‘enough’ by the medical profession in Australia?

Screen Shot 2015-06-04 at 6.31.22 pmI ask, because the sixth woman in three generations of the maternal line in my family is anxiously waiting to find out whether she has breast cancer. I was the fourth.

Two years ago, I was told the history of the disease in my family wasn’t enough to warrant genetic testing for me. That was before one, and perhaps two more sisters had received their diagnoses.

Let’s examine the facts:

  • My great-grandmother was an Ashkenazi Jew*. She died of breast cancer.
  • My mother, her grand-daughter, died of breast cancer.
  • Tante Joanna, my mother’s sister, died of breast cancer.
  • I have (so far) survived breast cancer.
  • The youngest of my three older sisters has (so far) survived breast cancer.
  • Now my oldest sister is waiting for biopsy results.
  • There are only two women left in my generation who are free of breast cancer; one older sister, one younger.

Two years ago, after my diagnosis, I explained to the head of genetic counselling at Townsville hospital that we had an unusual incidence of cancer in general and breast cancer in particular in my mother’s family. At that stage, I didn’t know about my great-grandmother, or either of my sisters. The Genetics Department decided I wasn’t eligible for screening. Not enough cancer. Now look what’s happened: another sister confirmed, yet another spending a frightened and sleepless weekend. I do understand they have to stop somewhere, but if I’d been screened two years ago and they’d found my BRCA1 & 2 genes were defective, things might have been very different. Even if the genes were OK, it would still have been a wake up call for the other women in my family. I don’t believe any more of us should go through this.

So, for the sake of the next generation of women in my family – and there are seven of them – I’m going to try again.

* An ethnic group well known for carrying defective BRCA 1 & 2 genes.

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64 thoughts on “Enough is enough

  1. Aaaw Kate, sending you a e-hug…

  2. Hugs and best wishes to you in this battle. It’s frightening to have that kind of information, potentially available but so far not in your hands.

    • katechiconi says:

      I suspect that the additional history will now make it at least possible. For me, it’s too late, but for my nieces, young women in their prime, it’s important to know. Maybe we’re just very unlucky, or maybe we’re carrying invisible damage. You can only make informed decisions about this sort of thing when you have all the facts.

  3. Oh, Kate! I’m so sorry to hear this. I’ll be keeping your family in my thoughts and prayers. I know you’re a strong woman and I also know that you can be persistent in such an important issue. State your case, again and again if necessary. I had the testing even though there wasn’t much of a history in our family because I was worried about my daughters and granddaughters. Forewarned is forearmed!

    • katechiconi says:

      Thank you so much, Pat. It is possible to have the testing done privately but it’s horrendously expensive, and I’m hoping, having written again to the genetic counsellor, that she will now feel we have *enough* history to warrant it being done through the public health system.

  4. Anlina says:

    Kate that is terrible news, I am really sorry for you. I know you have already been through hell and back, you are certainly entitled to testing as far as I am concerned. Wishing you and your sisters all the very best xo

  5. Oh Kate, what an awful worry. Such a history deserves to be shouted everywhere as a warning, particularly around the doctors who always think they know best. Sometimes they don’t. A similar refusal to refer occurred to my daughter-in-law,and a lump she’d reported had to wait another six months before they took any notice. Results: predictable. Patients are worried, frightened, don’t want to make a fuss, but sometimes it is necessary to protest, to insist.

    I pray that you will soon have better news. Hugs, love, ViV

  6. katechiconi says:

    Thank you so much, Viv. We have until Tuesday to wait for results of the biopsy. Fortunately, whatever is there is very small, since it was not picked up 4 months ago when she had her regular checkup, and she has acted swiftly instead of ignoring the warning. I think they really must act now, but you know how it goes…

  7. Debbierose says:

    Such a brave determined woman. SUPPORT your efforts and hope the attached link is of assistance. It has a note re Jewish ancestry and cancer. You should be referred to a family cancer clinic.

    http://canceraustralia.gov.au/clinical-best-practice/gynaecological-cancers/familial-risk-assessment-fra-boc

    • katechiconi says:

      Thank you for the support! I agree that with this history I should be tested, especially in the light of the possible genetic connection. We shall wait and see what the genetic counsellor says!

  8. Dreadful – I realy hope they now take action. It’s the same in my partner’s family (all sorts of cancer) 6 out of 10 brothers and sisters are affected (and so many more in other generations and branches of his family) but in Spain the medics just don’t seem interested in investigating further. That’s why we’re spending so much time in England – treatment for him is faster and it was picked up sooner. Focus on your family, share what experience you can but most of all keep loving and supporting each other. Sending you a big hug.

    • katechiconi says:

      Thank you, much appreciated! Medicine is pretty good here, but it’s a big country with not many people and resources are very spread out. So you have to really need something before you can access it, and I suppose they had to draw the line somewhere. Anyway, let’s wait and see what happens….

  9. rutigt says:

    My mother had breastcancer. She survived, but 20 years later she got cancer in her uterus. She lived with her cancer another 8 years before she died. She´s the only one , so far, in my family that has had cancer. The big C scares me.

    • katechiconi says:

      I was diagnosed with breast cancer and treated two years ago. Since then, all has been well, and I intend to live till I’m very old, and fight anything else that arrives with the same energy! To be honest, though, the treatment scares me more than the disease!

  10. tialys says:

    I’m shocked. I thought they took family history in these matters very seriously. All good wishes for a positive outcome for your sister.

    • katechiconi says:

      Apparently they do, but mostly when the women are younger at first onset, since cancers derived from the damaged BRCA gene tend to show up earlier. I would argue that if you are of a strong and healthy constitution, your body may fight the disease off until you are older in any case. Fingers crossed for good news, or at least not dreadful news, on Tuesday…

  11. claire93 says:

    I do hope that things move and that the other ladies in your family will be automatic (and free) genetic testing. Doctors know breast cancer runs in families and yours is obviously more at risk than others.
    All my thoughts to your sister(s).

    • katechiconi says:

      They start with me, as the first positive in my generation. If I’m clear, they’ll test the other sister who’s already had it. If she’s clear too, the implication is that it’s not genetically linked, just very, very bad luck. If either of us is positive, everyone else gets checked.

  12. The Belmont Rooster says:

    That’ ridiculous! Here in the US, they recommend women to be screened. If there is a history and tests show positive, the doctors recommend breast removal before you get breast cancer. A very good friend of mine in Mississippi got breast cancer with absolutely no family history of it. She passed away. She was loved by everyone and is greatly missed.

    • katechiconi says:

      We’re all screened. But my cancer didn’t show up on either ultrasound or mammography. And generally genetically-linked cancers show up earlier than they have with us. But I do think that this many cases now warrants testing.

  13. Emmely says:

    From what I remember when I studied medicine this many women from one family getting the same type of cancer should definitely be enough to do some additional testing. A different country though..

    • katechiconi says:

      I agree. But they use a complicated matrix to decide, based on a number of factors, including age. None of us were young enough when we got it to tick certain boxes in this matrix. But I think the sheer volume of numbers now has to ring alarm bells.

  14. kymlucas says:

    I am hoping the Aussie medical community will finally see the necessity for testing you and your sisters.

  15. My first thought was, Why don’t you have it done privately?, but I see from earlier comments that this may be prohibitively expensive, plus – one wouldn’t think any medicos involved in genetic counselling would dismiss you on a case of low-probability. Maybe there’s been a government cutback on spending in that area 😦
    A good friend of mine has been tested – her mother and sister both had breast cancer, and she has a daughter and two nieces. I realise now she must have had it done privately. If you can’t get this done in Australia, my educated guess is that it would be even more unlikely to happen in South Africa. If I am wrong, I would be only too happy to apologise for making the wrong assumption.

    • katechiconi says:

      I think I’ve now reached the tipping point where it becomes worth testing me. Cancer is inherently a genetic disease, but certain types typically manifest themselves at an earlier age, and the damaged BRCA gene version is one of these. Had any of my maternal relations had early onset cancer, they’d have been on it like a flash, but we were all over the magic age of 50… Apparently once you pass that landmark, it’s a lot more unlikely.

  16. Grannymar says:

    My heart goes out to you Kate. Modern medicine has made wonderful advances, but it can be so cruel at times by giving us expectations, yet the ‘powers that be’ will not allow us the benifit of these tests/treatments. In my case the family failing is heart problems. My maternal grandfather died in his sleep. Six of his seven children (mammy included) died from heart problems. In my generation, my five siblings and I have heart issues. One cousin had a heart replacement and and in another branch of cousins, three of them dropped dead.

    I hope they give you the test and that we waken to read each others blogs for many a long year! Special hugs.

    • katechiconi says:

      Heart disease is virtually unknown in my family, so it really shows that genes are all when it comes to disease. Stay well, and as you say, keep blogging for many years more! I plan to stick around too!

  17. Jule says:

    Oh no. 😦 Keep persistant about the testing. I have experienced the “wrong age” excuse myself, although in another medical context.

    • katechiconi says:

      Crazy, isn’t it, as though the body suddenly throws open the gates to all sorts of problems at 50 which you ‘shouldn’t’ get at 49… The email went out yesterday. Let’s see what Tuesday brings (Monday is a pubic holiday).

  18. so sorry to hear !!! I really hope it will be good news she’ll get !

    • katechiconi says:

      So do I, but statistically, it looks a bit unlikely…

      • my oldest son died of cancer a few years ago at the age of 30 so I know how horrible and unpredictable it can be, also my youngest son had cancer but so far he is in the clear but each time he goes to hospital fora check-up I am holding my heart !!

      • katechiconi says:

        Rita, I’m so sorry to hear that, and I completely understand your fear for him at every check-up. For myself, I decided there were still too many things I wanted to grow, quilts I wanted to make, places I wanted to visit, and now, the Husband to make happy, to let the disease beat me. I’ll have to go some time, but not yet, not yet…

  19. I hope all goes well for you and your sisters.
    Dad started to fret for me at the end of his life – too much cancer in his family with him, his sister and his parents and what that might mean for me. The difference is that theirs were all different types. Your ‘safe’ sisters need to be checked.

    • katechiconi says:

      I totally agree. I think if the Genetic Health team in Townsville still don’t think it’s warranted, I should approach the rest of the family to see if they’d be prepare to contribute to getting it done privately. This really is a diagnosis too far.

  20. Kirsten says:

    An argument definitely worth fighting . . . I hope it works out for you. Fingers crossed.

  21. Shaking my fist in shared fury.

  22. So far, here in the U.S., such tests aren’t covered by most insurance policies. When they are, they’re not covered 100%.

    • katechiconi says:

      Here, you either get the test free, because you ‘qualify’, or you pay 100% of the cost yourself. I find the juxtaposition of ‘enough’ and ‘cancer’ – in that order – sickening. It really does reduce you to a statistic. Conversely, I suppose they have to draw a line somewhere, but I don’t believe there’s a cancer sufferer out there with a strong family history who’d agree they belong on the wrong side of that line.

      • When we feel threatened, we need action. Regulations and policies make no sense at all when we’re talking about people we love.

      • katechiconi says:

        I do understand the need for a limit to who and why testing is done, but it doesn’t make it any less painful to be deprived of information that could save those I love from the frankly horrible experience I went through.

  23. EllaDee says:

    Another aspect that’s crazy about “qualifying” for genetic testing is that in other health scenarios, if there is a family predisposition the medical profession are all over it, e.g. they get tunnel vision if you have a family history of heart issues. And it with that focus they may neglect to investigate other issues.
    I’ve come across this my whole life as Mum died of a brain tumour. I suffered years of migraines thanks to an undiagnosed until I was 40 issue with the Pill. But I’ve been tested several times for a brain tumour…

    • katechiconi says:

      Ah yes, one of those “can’t see the lung cancer for the heart disease” scenarios. I had my own issue with migraines and the Pill. I used it for years in implant form as the only cure for my migraines! Now, there’s some thinking it may have triggered the breast cancer, which was 100% ER/PR positive…
      I had a call today from Townsville Genetic Health. They *still* don’t think it’s worth testing me because of the age thing…. Grrrr!

  24. OH Kate,
    I knew nothing of this! So happy to have you still with us today!
    I hope the medics finally test the whole family!!!
    hugs
    Esther

    • katechiconi says:

      I’ve had another long conversation with the genetic counsellor, and they’re *still* saying we’re not in the right demographic – all too old when the disease first struck. And I’m quite pleased to be around still too, and able to sew and ride the motorbike, and have fun!

  25. wombatquilts says:

    Augh. I have got behind on my blog visiting and missed all this. I am sorry…but very glad your sister has had some good news. Our family is going thru the same thing with colon cancer at the moment – science is amazing but sometimes the battle for access is frustrating.

    • katechiconi says:

      You said it. And what seems like an obvious connection to us is not at all clear to the genetics experts – I’m very, very glad they don’t think it’s the faulty gene….

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