Cursed by her genes

Posted - May 2009 in Living with HSP - Management & Treatment News

Krystal changes her destiny

ed note: this story is about breast cancer but the family planning issue is relevant to HSPers, and the option taken here is available to HSPers.

Sydney Morning Herald

March 29, 2009

KRYSTAL BARTER calls it the family curse – four generations of women who have had breast cancer, each carrying a mutation in the BRCA1 gene.

Knowing she, too, carries the rogue gene that increases the likelihood of developing breast cancer to up to 80 per cent, she was determined she would not become the fifth generation to develop the deadly disease.

So in November, before any cancer was detected, Ms Barter underwent a double mastectomy.

At 25, the Sydney mother of two sons was one of the youngest patients in Australia to undergo the radical procedure for preventative reasons. Now her challenge is to bear a daughter free of the gene, breaking the family curse forever.

Although scientists will allow Ms Barter to choose an embryo free of the gene through pre-implantation genetic diagnosis, they will not allow her to select specifically for a girl. Sex selection is no longer offered in NSW after the Australian Health Ethics Committee ruled against it in 2004, unless it involves a sex-linked disease. Her only option to have a girl free of the gene is to go overseas for expensive reproductive treatment.

“The curse is still there but if we got a girl that didn’t carry the gene fault I would feel like it had stopped,” Ms Barter said. “I know 20 women in the family who have had breast or ovarian cancer.”

Both Ms Barter’s mother, Julie, 48, and grandmother, Val, 72, had double mastectomies after being diagnosed in midlife. They were at her side to offer support through the surgery.

Like most modern mastectomy patients, she had an breast reconstruction immediately after the operation, whereby some of her own skin was retained and stretched over silicon implants.

She is now enjoying her life free from the “cloud of cancer”. The double mastectomy – which included removal of her nipples – means her chances of getting the disease have now been reduced to about 1 or 2 per cent. She credits her husband, Chris McCracken, 31, and two young sons, Riley, 4, and Jye, 15 months, with giving her courage.

“It was a hard decision to make but the outcome is very empowering, to change your destiny,” she said. “To be able to say to my husband: `Don’t worry, I’m not going anywhere.’ “

Ms Barter brought her surgery forward when a screening procedure found changes in her breast cells that could have been an early indicator of breast cancer.

Sydney endocrine and breast surgeon Dr Mark Sywak said that preventative double mastectomy was becoming more common thanks to genetic screening.

“It’s pretty tough but for a lot of the patients I operate on, they’ve seen mothers, grandmothers, sisters and aunts die from breast cancer so for them it’s a reasonably easy decision to make,” he said.

Dr Kathy Tucker, head of the Hereditary Cancer Clinic at the Prince of Wales Hospital, said about 10 per cent of women carrying the BRCA1 and BRCA2 gene faults chose to have a risk-reducing mastectomy. However it was not the only option, with young women at high risk of breast cancer now being eligible for the Medicare rebate for MRI breast scans.

Ms Barter is an ambassador for the National Breast Cancer Foundation and works full-time on her website www.pinkhope.org.au.