Pink Ribbon Lingerie Blog

Today’s guest blogger is Kim, who I met last year and has kindly offered to share her story about her journey to motherhood the BRCA free way!

Kim’s Story:

I have just gone through my first round of PGD and at the time of writing this I am 19 weeks pregnant with a BRCA free baby and I am over the moon!

WHAT IS PGD?

PGD stands for Pre Genetic Diagnosis and is a way of screening embryos to ensure that a specific genetic condition is not passed on to children of those affected.

It is a fairly new process for BRCA1 carriers introduced in 2007 (and 2010 for BRCA2 carriers). By 2009, less than 10 couples with BRCA1 had applied to attempt the process, and according to a recent article published in the European Journal of Human Genetics, there have only been 8 pregnancies using this method to date.

WHAT IS BRCA1 & BRCA2?

• BRCA1 – Is an inherited gene mutation or faulty gene which means a permanent change to a person’s DNA sequence. Having a BRCA1 mutation can mean an increased susceptibility of developing breast, ovarian or bowel cancer.
• BRCA2 - Is an inherited gene mutation or faulty gene which is a permanent change to a person’s DNA sequence. Having a BRCA2 mutation can mean an increased risk of developing breast, ovarian, prostate, male breast cancer and malignant melanoma.

WHY DID I DO PGD?

I found out that I had BRCA1 a few years ago having lost my wonderful mum aged just 56 to cancer, and many other female relatives at young ages. I knew that if I could put a stop to this hideous disease in my family I would. I wanted to change how my family tree looked – I wanted to have people live to old age, and be cancer free – especially my children.

HOW DOES PGD WORK?

Undergoing PGD is by no means an easy process. It involves the use of Assisted Reproductive Technology, which is usually offered to couples with fertility issues.

I had to go through weeks of having my husband inject me with hormones, having my ovaries stopped, and then started again, being prodded and poked and having scans and blood tests every other day. The aim was to obtain a number of eggs (collected under sedation), that once fertilised would be left to develop for three days before being genetically tested by having a cell removed from each embryo. The genetic material of these embryos was then tested for BRCA1 and then any embryos that were deemed ‘BRCA free’ were available to be implanted back in the uterus, with the hope that they would form a viable pregnancy.

We were fortunate enough to have 8 eggs fertilise, of that 5 carried on developing and made it to day 3 and were genetically tested. From the 5 that underwent testing, 3 were deemed ‘BRCA free’ and one was transferred back in to my womb. We have the other two frozen at the hospital so next time round the process will involve fewer drugs as we already have the embryos waiting for us. We just need to hope they will take too!

WOULD YOU DO IT AGAIN?

You bet! It was a few hard months, but we were very determined and knowing that our baby won’t have BRCA and carry the fears and life changing dilemmas I am faced with is just amazing. I know some people say you shouldn’t tamper with nature, but having watched my mum die of cancer, I would do anything to stop anyone close to me from being affected. The PGD procedure is currently available for women under the age of 39 and men under 60.

In the grand scheme of things, what were a few injections for having a child who won’t need to go through all this?  I know it can depend on a lot of factors – I found out that I was a BRCA carrier when I was only 27, before I had had children. Obviously by the time some people find out they are a carrier, they have already had their children so PGD is not an option. But for anyone who is in a similar position to me, I highly recommend it!

WHAT DOES IT COST?

Like all fertility treatment, the cost of PGD is high. It is more expensive than the cost of IVF due to some complicated tests and factors. The cost of the PGD procedure is £8,000 per cycle, plus the drug costs of approximately £1,000 – £1,200.

·         Procedural costs

This relates to the procedural cost including the consultations, laboratory testing, egg collection, embryo transfer, scans, blood tests etc.  This is a standard and complete cost for all patients and each new cycle will cost the same. It also includes freezing of any surplus unaffected embryos AND one further treatment cycle using frozen embryos if appropriate.

·         Drug costs

This relates to the medication that is needed for down regulation, ovarian stimulation and embryo transfer.  This will vary depending upon the needs of a couple.  Factors that will affect this include:

• The age of female partner
• Hormone test results
• Previous response to similar medication

You can apply for funding from your local PCT (The hospital will do this on your behalf) only if you do not already have children. We were lucky enough to have one cycle funded, but for future children we will now have to pay for. A frozen cycle is cheaper than a fresh cycle.

WHERE CAN I FIND OUT MORE ABOUT PGD?

We had our treatment at Guys and St Thomas in London, but there are a few places you can have it in the UK. To find out more go to:

http://www.pgd.org.uk/home.aspx

WHERE CAN I FIND OUT MORE ABOUT BRCA1 AND BRCA2?

Both men and women who have harmful BRCA1 or BRCA2 mutations may be at increased risk of other cancers. Genetic tests are available to check for BRCA1 and BRCA2 mutations. A blood sample is required for these tests, and genetic counselling is recommended before and after the tests. If BRCA1 or BRCA2 mutation is found, several options are available to help a person manage their cancer risk.

For more information go to:

Hereditary Breast Cancer Helpline

Breast Cancer Care