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PGD for risk genes?

This video features Caroline Presho, a BRCA mutation carrier, who has not used PGD for her children.
I went along with my sister. I was 33, she was 29. We met a genetic consultant who sat us down and talked to us about what carrying a BRCA mutation would mean to us. We had no idea he told us that we would probably have up to an 87% lifetime risk of developing breast cancer a very elevated risk of developing ovarian cancer there is pancreatic cancer, melanoma, a prostate cancer risk for men. He asked us did we want to give our blood samples. We thought we haven’t really got anything to lose so we gave our blood. And then we went away for six weeks to wait for the results.
My paternal aunt had been diagnosed with ovarian cancer and subsequently endometrial cancer. And my family are of Ashkenazi Jewish heritage and in the general population 1 in 400 people will carry a BRCA mutation but in the Ashkenazi Jewish community it is 1 in 40. So, she was tested, found to be positive and then she urged other family members to seek testing. My sister and I went back to see the same genetic consultant. He sat us down again. He told us all these percentages. And said, “would you like your results?” And we said, “yes.” We’d had a little discussion before we got there that we both had to be the same.
So we either both had to be negative or both positive. We couldn’t cope with one carrying a mutation and not the other because it would just not be right. So when he told us we were both positive we cheered and I think he thought we were completely mad but we felt happy because we were the same and we could travel the road together. I was put straight into the system which is quite a scary thing because suddenly you are receiving appointments for breast screening and mammograms and MRI’s and speaking to family history clinics and it is all very overwhelming.
And that is when you start reading up on what carrying a BRCA mutation means and you go online and it’s actually very frightening and the problem is carrying a BRCA mutation and not being a cancer patient is a bit strange because you don’t really fit in anywhere. You aren’t the same as people who have cancer because you don’t have it but you have such an elevated risk that you are terrified, you are absolutely terrified of every single lump and bump. You don’t want to use the resources of the cancer charity because you don’t have cancer. So, you are sort of left in limbo.
So, my first experience was having a mammogram which is not the greatest experience in the world but I went. And it was fine. And then a MRI and then I was recalled back because they found shadows on both my breasts. And that’s when I went into panic overdrive. I was utterly convinced I was going to die. I thought I’ve got breast cancer, I’ve got three small children who were all under six at the time. Absolute terror. I was then asked to come back for a breast ultrasound and it was then that they said that the shadows where just due to the time in my cycle. And everything was fine.
But it was then that I made the decision that I couldn’t do that every year. That I had to have risk reducing surgery. It is very difficult when you have kids and you know you carry a mutation because there is that obvious guilt, have I passed it on? Are they going to get cancer? Is it my fault? But having thought about it long and hard, you know, we all pass something on. My consultant said to me we all pass mutations on, I’m just very lucky I know what I am potentially passing on so my children will be well looked after.
PGD is quite new within the BRCA community and it is something I think is absolutely wonderful for people who choose to go down that route. It is not something I was offered. I had my three children or three of my four children before I found out that I carried a BRCA mutation. But I think for families who are thinking about starting to have children it’s its wonderful because they can put an end to the mutation and an end to the cancers that have ravaged their families for generations. PGD is where a couple will go through a process a little like IVF.
So they will produce embryos and then these embryos will be tested to see whether they carry a BRCA mutation and those that carry a BRCA mutation will not be implanted. And those that do not carry a BRCA mutation will be implanted so that the pregnancy can continue and the parents will know that there is no chance that the baby will carry a BRCA mutation. My family, I don’t really, I am not aware of the extensive history and how many people died very young of cancer because they died so young they weren’t here when I was born.
But many of my friends have lost mothers aunties, grandmothers, so for them it is extremely important to make sure that their children don’t carry a mutation and then future generations don’t have to undergo the trauma of losing people at such a young age. When I got my BRCA mutation results there was practically nothing out there which was very stressful for me. Since then I have taken over an online support group called ‘BRCA Umbrella,’ and we support men and women worldwide. We have over 2,500 members. And we get involved in campaigning and raising awareness. we try and link people in different countries who have similar experiences.
And also many of the charities in the UK and worldwide have more resources to support those with BRCA mutations. So we don’t feel like we are using resources that are there just for cancer patients. There was specific support for us as mutation carriers. I would love there to be a time when my children didn’t have to worry about being BRCA mutation carriers. So, they could undergo PGD if they so choose or screening is advanced that it would detect things like ovarian cancer. It would be just lovely if they didn’t think that their children or their grandchildren would be at risk and cancer wouldn’t ravage the future generations like it has past generations.

Caroline carries the BRCA mutation, an unexpected inheritance from her father.

Here she provides an insightful view on the implications of carrier knowledge in terms of personal health and family impact.

In Caroline’s case, she had to make a decision based on probabilities. The BRCA mutation increases a Xperson’s risk for breast and ovarian cancer. In fact, the BRCA mutation often predisposes to early, aggressive cancers.

The average age of onset of BRCA-associated cancers is only 51 years of age.

Points to consider: Imagine you were in Caroline’s shoes, having to make decisions about your future offspring based on probabilities and risks. What kind of information would you need to make your decision? Who would you go to for advice? What would you do?

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