Octobers and Genetic Testing

Ever since Pablo, my first child was born in October, it has become one of those extra special months on my calendar. I remember in 2007, the year he was born, when finally October arrived, how my heart used to skip a beat on seeing his forecasted date of arrival of the 8th as the sell-by date on the milk cartons. He kept us all in suspense until the 13th of that month though, one of the longest 5 days wait of my life. And we’ve been celebrating every year since with themed birthday cakes and fun parties.

Then there’s Halloween. I had it buried in my calendar as one of those festivals that I wasn’t keen on remembering with any special celebration, but alas it has been unearthed from my childhood and marked excitedly every year with masks and face paint, spooky tunes and hanging apple games, evening house callings and poem recitals, pumpkins (at a push), apple cake (Barm Brack hasn’t reached the Spanish shores) and lots of fresh tasty nuts.

This year Halloween will be made extra special by the presence of my sister and her youngest son Ronan.  And we’ll be celebrating more than ghosts and goblins too!  Spilling in to the 1st of November, I’ll be ditching chemotherapy sessions (hopefully forever) out of my life and burying that bitter spirit with a bottle of the bubbly stuff.

But October of 2016 has become more booked up than ever with four chemo sessions still to complete, the usual fortnightly collection of my sick certificates, the first of my biannual revision tests and on the last day of the month, I’ll be genetically tested for alterations to the “Brackey genes”, as I affectionately call them.

I first heard about these menacing genes, correctly named BRCA 1 and BRCA 2, from the lovely girl who supervised my fourth year biochemistry practicals eighteen years ago. These genes, when altered, were just around then being discovered to play a major role in many incidences of familial breast and ovarian cancer in women. I remember listening with interest at the time but since it was not a disease that had ever affected my family at the time, that information was very swiftly shelved at the back of the top most recess of my mind, where memories of passing interests fade into darker and darker haziness.

Until the day I was told I had breast cancer and the possible genetic implications of that were mentioned. The memory of that pretty girl, who my class mate asked out on a date, reluctantly were dug up, dust blown off it and the future date of the 31st of October 2016 assigned to bring to fruition the practical reality of what was once for me just a fleeting wonder.

If anyone is familiar with Dr. Seuss’ (rather surreal) tale of “The Cat in The Hat”, you’ll know the mysterious characters who appear midway through the story, Thing One and Thing Two, running out of a closed box and running amuck up and down the corridors with kites and dresses while “mother is out”. Well they’re like Brackey 1 and Brackey 2, in their mutated forms.

When functioning properly, BRCA 1 and BRCA 2, located on chromosomes 17 and 13 respectively act as tumour suppressor genes. So the genes create proteins to autocorrect damage to its own DNA in order to prevent the formation of cancerous tumour cells, normally in the breasts or ovaries at some relatively early stage in a young woman’s life.

But when they take on the characteristics of Thing One and Thing Two, and decide to run amuck in the body, it is almost always due to an inherited mutation (spontaneous mutations in these genes caused by environmental factors are extremely rare). There are different ways that the genes can be mutated or altered, and some are more harmful than others (changes in the BRCA 1 gene being more detrimental). But only 5-10% of breast cancer cases are attributed to these mutations. The rest of the cases are caused by…well whatever (see my post on “Why Me?”).

At the end of this month, October, I’m going to be taking the initial steps to find out into which category of breast cancer cause I fall, genetic or whatever. A history of a medical nature of my greater family will be taken and stored as a family tree, then blood samples taken to be sent off for rigorous genetic analysis and the results will be presented to me at some unknown time next year.

If I test positively for any mutation in either of the BRCA genes, the most immediate consequence for me will be the removal of my other breast and ovaries as soon as possible, the prophylactic surgery, which Angelina Jolie gave a public image to in 2013.

If I test negatively, I’ll go on my merry way, continue with my hormone treatment and biannual screening tests for five years and hopefully become a cancer-free survivor statistic for many years to come.

With my familiy’s medical history as it stands today, the indicator is pointing in the direction of a negative result. To really qualify for an analysis of your BRCA gene state, there would have to be many more incidences of breast cancer in the female branch of my family tree as there currently are (and I have my mother and sister, six aunts and twenty nine female cousins!). But my age and the type of tumour that I had (invasive lobular carcinoma) may indicate some sort of genetic involvement.

So what result am I hoping for?

Well, on the one hand, a positive result would provide an explanation for my breast cancer occurring at my age, which although I’ve accepted it, a reason for it would be conclusive for me. It would also justify the removal of my other breast, which although deemed healthy now, I view it as, my oncologist called it, a “disease time bomb” (hearing those words from a professional cancer doctor are more that disconcerting).

I think it would be safer to remove my left breast, a kind of insurance policy, but since the removal of a healthy breast from women who have had a unilateral mastectomy, has not demonstrated an increase in survival rate or decreased the reoccurrence of breast cancer, doctors are reluctant to perform the prophylactic surgery, unless there’s a genetic implication.

On the other hand, whereas a positive test result would be good news for me now, it could provide a possible future legacy for my two daughters in particular and somewhat for my son, an inheritance which is paved with medical tests and screenings and futuristic decisions of an ethical nature.

The laws in Europe concerning genetic testing and applying the results to embryos and even to the unfertilized egg are changing, the result of which is in the provision of more and more leniency to couples and doctors to choose in advance the genetic make-up of a child. Already 30 families have “benefitted” from this action in Spain. So it could mean that if either Ana Maeve or Ellen tested positively for the altered BRCA genes, they could have their own eggs tested and only the “unblemished” ones harvested.

To me it sounds like taking up the role of God here on earth. And if you asked me if I’d prefer to have had breast cancer or be unborn, my reply should be obvious. Having this disease is not pleasant but it is moulding me into a stronger person, at least emotionally and spiritually.

Testing negatively won’t exactly liberate my girls from future screening either.  If your mother has had breast cancer, it is recommended to begin screening for this disease ten years younger than her age of diagnosis so my girls will inherit that legacy either way from the age of twenty nine.

The genetic testing will be an interesting end to October and the suspense of the results I will have to contain until next year. In the end, I have concluded that it doesn’t really matter whether I test negatively or positively. What will be will be. More and more I realise how little of life we can actually control.

Concerning health and illness, I think the best I can do is to educate my children from a young age to be mindful of their health and their obligations in looking after it and to allow them to see, through my actions and behavior, how having a major illness isn’t the end of the world. Life can still be looked on with a smile. We can continue to celebrate the passing of the years and seasons with joy and thanksgiving and accept the reminders and coming of the end with a hopeful peace.


  1. Noel Brennan

    I learned lots, Déleanbh, from this informative piece, so, once again….well done, congratulations and keep it up – in every way.
    You write of life’s setbacks, and I hope that you continue to move on, just as I did. I hope that you have the ‘beano’ that I have experienced since my first health hiccup nearly ten years ago, and lots more: youth is on your side.
    Your piece is full of hope, of reality, of celebration, of remembering, of thoughts for the future…and not merely your own.
    When Hallowe’en arrives, don’t forget to teach Pablo, Ellen and AnaMaeve about the other lady who flies… (pardon the poetic licence):

    ‘Witch, witch, where do you fly?
    Under the clouds and over the sky.

    Witch, witch, what do you eat?
    Little black apples from Hurricane Street.

    Witch, witch, what do you drink?
    Vinegar, porter and good red ink.

    Witch, witch, where do you sleep?
    Up in the clouds where pillows are cheap!”

    To conclude, keep looking forward, and this comes with lots of love and kisses from your ‘ole man’ looking forward to Christmas.


  2. Ana

    October is my favourite month…I war born in October.
    Good luck, Deirdre! As we say in Spain, “que sea lo que Dios quiera” but I hope that is the best for you.
    Tkanks for so many and so good information. I have a lump in my breast since last year. I can touch it and see it in the mirror. It is a BI-RADS 3. I have to pass a bimestral control for two years, and the next one is in November. When the date is coming up, I begin to get nervous, thinking about what will be the result, although it´s not my first and only lump, but the most worrying now. I always pray the day of my appointment, jeje…
    Wish you all the best!
    Besos. Ana.


    • deleanbh

      Happy Birthday Ana…I don’t know when your birthday is but at least I know it’s in October. Thanks for the book you sent. I haven’t started it yet but I look forward to it soon. I also wish you luck with your revision tests in November. These things are always a worry at the back of our minds. Take care! Deirdre xxx


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