Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts

Tuesday, 15 June 2010

Writing Workshop - Tainted Blood


Mini sometimes I look at you and it is like looking at a mini me in the mirror.  My boy, you are going to have to learn to control that temper of mine that you have.  That boiling anger that I can see clearly inside.  You are going to have to grow and learn how to engage the brain, before putting the mouth in gear, learn to count to ten before erupting into the volcano of fury you can be.  It isn't going to be easy, I have said some hurtful things in my time due to my bad temper, but one thing that being a mother has brought me is a modicum of patience.

Maxi, I see a lot of your daddy in you, your intelligence, you willingness and your kindness are all wonderful traits of your Father.    You also have your Daddy's love of all sports and it is so lovely to see you get involved and enjoy being outside.

You both fill me with so much joy, you have the best and worse of the two of us and with that all the potential to be a unique individuals.  You can mould and sculpt the traits you have inherited and turn them in to something new, something special.   This is all in your hands, they are your choices to make.  All I can do is influence you to be the best you can.

There is something though that is out of our hands, that we have to leave to destiny, to fate and to this end I pray every night to a God that I am not sure exists.  I pray that you do not carry the same genetic "spelling mistake" that I do.  I have stopped trying to see who you most take after physically in the hope that I can not passed on my tainted blood, in addition to those wonderful brown eyes you both have.  

I hope that the small top lip you both have doesn't mean that you too are susceptible to the genetics that have made me make the hard decisions I have.  

People often say "doesn't Mini look like you and Maxi like his Daddy" and each time iIhear it, I cry a little inside.  I hope that looking like me, doesn't mean that you too are sentenced like to to worry, wonder and pray.

This is my burden, mine and Daddy's and we try and carry it with dignity and grace.  I graciously accept all complements about you both, for you are my pride and joy and together we will deal with what my tainted blood will bring.  I love you.


This post as wrote for Sleep is for the Week's writing workship, I chose promt 1. What qualities or traits do you think your children have inherited from you, you partner, or even from your extended family?



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Sunday, 24 January 2010

Genetics - Would you want to know?

Geriatric Mummy is in the very unfortunate circumstances of watching her beloved Father go rapidly downhill with early onset dementia and she has asked what other people would do in her situation.  I decided to do a post, rather than a comment, as it would be rather long, as this is a subject close to my heart.



I have a faulty gene, technically they call it a spelling mistake in the DNA and in mine and my family's case the issue is with the BRCA 1 gene, which for me due to my family history means that I had an 80% lifetime risk of breast cancer and a 60% lifetime risk of ovarian cancer.  It also means that I am more susceptible to a number of other cancers too.

Now to put this in to perspective, genetic breast cancer accounts for approximately 5% of the cases of breast cancer, so it is a relatively small amount and pretty unusually to get the positive result for the spelling mistake.

The reason I came to find out was down to my wonderful Aunt T, she was diagnosed with a very rare type of cancer, primary peritoneal cancer and during her treatment she was treated for a genetic spelling mistake, mainly due to my other Aunt dying from cancer and the history of cancer on my maternal side of the family.  We all concentrated on my Aunts recovery and through nothing of the results not coming back, so that when they did informing her of the genetic issues we were all floored.


Initially the NHS offered a genetic test to my Aunts remaining siblings, her daughters and my deceased Aunts children.  My mum chose to have the test, even though she is the oldest in the family.  She was diagnosed as carrying the spelling mistake too, which meant that the test was opened up to me and my brother.

MadDad and I received counselling from Macmillan even before we made the decision whether or not to have the test.  We were really lucky in the care we received and we were also both of the same opinion, that finding out if I carried the spelling mistake would enable us to take proactive actions against any cancers.


In all honesty I thought that I would be fine and to find out otherwise was a real punch in the solar plexus, but we decided that we would research all the options open to me and started meeting with consultants, cancer survivors, woman who had undergone mastectomies, nurses and anyone we could really.

I had a mammogram, an MRI, a colonoscopy, a gasgoscopy and an ultrasound before we had come to any conclusion about what we would do. Initially I decided to have my ovaries and fallopian tubes removed.  There were distinct advantages to having this operation prior to turning 35, both for the reduction in risk of ovarian cancer and also the fact that the changes in my hormones due to the operation would also reduce the breast cancer risk marginally.

I underwent this initially operation in July 2008 when Maxi was 3 and Mini was 2.  We both yearned for a larger family but decided on balance that it would be better to concentrate on the two we have rather than risk having anymore and subsequently developing ovarian cancer, especially as it is very hard to diagnose.

I was in hospital for one night, back driving the following day and swimming 4 days later.  It was a really easy recovery and I was very lucky indeed.


We were also discussing the possibility of breast cancer and also the diagnosis of this, which would hampered by the fact that I was a larger breasted lady (38GG), so after much consideration, deliberation and after taking as much advise as we could that I would have a bi-lateral prophylactic mastectomy with an immediate reconstruction.

I also decided that initially I would have a reconstruction with implants, as this meant the recovery should be quicker and less traumatic for us as a family as a whole.

Knowing that I have this spelling mistake, also leaves me with the knowledge that I may have passed this "bad blood" on to my two wonderful boys.  They will both be entitled to the genetic test at 18 should they wish and I will stand by whatever decision they make, but I also live in the hope that as they can now detect which gene the spelling mistake is in, that they make even be able to correct it by the time the boys are older.


After seeing what people with cancer go through, the chemo, the radiotherapy, the long term drugs to hopefully prevent the cancer returning, we are in no doubt that we made the correct choice for our family.

Yes what we have been through has been traumatic for the minimads, but the possibility of putting them through cancer and its treatment makes me feel physically sick.


In doing what I have, I have not wiped out my all my changes of developing cancer, but I have reduced the lifetime possibility drastically.  I understand that not everyone would have done what I did, but it was the right decision for me, I could not live year at a time just waiting for the cancer to show itself.  I was lucky in that I could take preventative measures, which is not always possible.

So Geriatric Mummy that is my blog post on it, although it hasnt answered your question about dementia. I feel for you I really do, to watch your father slip though your fingertips must be unbearable. No one can make this decision but you and your loved ones, but what ever decision you make, I will be here to support you and yours in any way I can.




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