The word mutation is so ugly, isn’t it? And yet, we all have, existing within our cells, genes that have some sort of mutation. Maybe these changes only manifest themselves in things that are relatively benign, like having colour blindness or an exceptionally large nose. In other cases, changes in genes can be a little more serious, and people are born with chromosomal disorders, or extra digits, or club feet.

In Gavin’s case, he was born with a change to the hSNF5/INI1 gene in chromosome 22. This mutation can not be seen. It doesn’t manifest itself in any way, physically or cognitively, in his body.  He appears to be a perfectly normal little boy, except that this gene is now thought to be a tumour-suppressor gene. A change or deletion of this gene is strongly linked to AT/RT tumours, and other CNS tumours. In Gavin’s tumour, this gene was deleted, which is why the tumour grew out of control so quickly. Further genetic testing confirmed that he has a extra copy of this gene in every cell of his body, which is a germline mutation.

Very, very rarely, a parent can pass on this mutation to their child, although it would be unlikely that the parent would have grown to adulthood without ever having a malignant brain tumour of their own. Unfortunately, unlikely seems to rule our lives right now. I learned today that I too possess this mutation in every cell of my body, and that I passed it on to my son. We were told that the possibility existed that this would be so, but that it would be unlikely.

Again today I was forced to battle through that wave of nausea, fear, sadness, and yes, guilt that accompanies such horrendous news. I cannot say that I was entirely surprised. I had a pretty good feeling that this would be so, despite the odds, given my family history of brain tumours. Despite that, it is still very difficult news to handle, and obviously I’m still trying to process it.

The good news is that I made it to adulthood without ever developing a malignant CNS tumour.  Usually this mutation is associated with pediatric tumours. The bad news is that many with this mutation develop benign tumours called schwannomas, which is a medical condition which must also be handled, often with surgery. I’ve also been told that the chances of my also having schwannomas is unlikely, but possible. Within the next little while I’ll be having an MRI to determine if any tumour growth is already taking place. The power of positive thinking will have to guide me here, because unlikely seems determined to rule my fate.

The other unfortunate news is that this means that any other children we have would have a 50% chance of also having this mutation. We don’t like those odds, and knowing what we know, we could not possibly bring another child into the world aware that he/she would potentially have to undergo treatment. There still may be options for us to expand our family, but there are many things that need to be addressed first.

I don’t know what this means for the other members of my family yet. There will be more testing done on various relatives to determine who, if anyone, also has this same abnormality.

Life seems very unfair to me at the moment. Tomorrow will be my day for rallying and getting on with it. Tonight I feel betrayed by my genes.

10 responses to “Genetics”

  1. Ray & Glennys

    Hi Erica
    Very sad and sorry to read this genetics report . Our hearts go out to you .
    Love to you and all your family .
    Ray & Glennys

  2. Lacey

    Wow, Erica. What incredible news to receive.
    Our thoughts are with all of you.
    Lacey and Phil

  3. Aunt Karen

    Life for you and Craig does seem very unfair. Would it be better not to know, as it was in the “old” days? That is a hard question. I suspect you would rather know and face challenges with your usual courage and grace. Love you.

  4. Auntie Melanie

    Hi Erica – so terribly unfair is right
    I’m also sort-of thinking – would it be better not to know as we might all have it for that matter – and if we all find out – what then? I don’t know!! – but one thing I do know is you, Craig, Gavin are a circle of hope, love and faith. Life IS good. Let’s all keep it going.

    I love you guys.

  5. Diana Solomon

    Erica, You, Craig and Gavin have faced many challenges as a family and have succeeded in showing how love, courage, strength, grace, tenacity and some good old anger can overcome overwhelming obstacles. News like this is devastating, but I cannot imagine that anything would ever stop you three from writing your own storyline, or the rest of us from wanting to participate in it and celebrate it with you. Wishing you and your family and extended family health and the same courage that you have shown us all.

    xx diana

  6. Elizabeth

    Words cannot express what I am feeling for you right now, but know that I constantly send thoughts of love and healing energy your way. You will continue to fight this battle head on, and we will all continue to support you. Stay strong. We all love you over here. xo

  7. Gail

    This is not easy news to absorb, Erica, and I wish it were otherwise. I hope there is some reassurance and comfort in the words we hear so often from geneticists today: “genes are not destiny”. We all think of you often and your advice to stay positive.

  8. Mette

    Ugh. That is very tough news to hear. If it helps to connect with others, there is another ATRT family dealing with the same situation (Mattea Lesorgen, she’s on carepages). Her father did/does have schwannomas. Take care, Mette

  9. Mairi

    Still with you in prayer every day. I will include this news in my prayers. I will join you in meditating on you and Gavin, and your whole family, (those already in your family and a those to come) staying healthy.

  10. Erin

    thinking of you, meditating good vibes your way – any updates?



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