Jean’s can­cer plea

Fam­ily urges oth­ers to fol­low up fam­ily his­to­ries

Hamilton Metro News - - Front Page - Ged Cann

Thames res­i­dent Jean Ne­shausean has a long his­tory of can­cer in her fam­ily.

She has lost two sib­lings to can­cer and re­cently dis­cov­ered a ge­netic link which tests re­vealed to have been passed down three gen­er­a­tions.

Her 21-year-old grand­daugh­ter car­ries the gene and sud­denly faces a dead­line on start­ing a fam­ily.

Now Jean wants to tell her story and en­cour­age any­one with a fam­ily his­tory to be tested for ge­netic pre­dis­po­si­tion to can­cer.

The gene is the mu­tated ver­sion of the BRCA1 gene, which pre­dis­poses car­ri­ers to breast and ovar­ian can­cer.

Soon af­ter the dis­cov­ery Jean un­der­went a rec­om­mended surgery to re­move her ovaries and fal­lop­ian tubes.

“We call it up­stairs/down­stairs can­cer. They sug­gested we have our ovaries and fal­lop­ian tubes re­moved be­cause they can­not de­tect can­cer there yet,” Jean said.

Mid­way through the surgery, how­ever, it was dis­cov­ered she al­ready had an 8cm growth on her right ovary. Two weeks later Jean was in Auck­land Hospi­tal to have the growth re­moved.

Her trou­bles were not over, with a sec­ond tu­mour grow­ing around her heart. Too dan­ger­ous for surgery Jean has since un­der­gone two rounds of chemo­ther­apy.

Jean lost her sis­ter Iso­bel to breast can­cer, de­spite her un­der­go­ing amas­tec­tomy. Iso­bel re­fused a sec­ond round of chemo­ther­apy.

“Hav­ing been through it now my­self I un­der­stand to­tally. It’s not nice at all,” Jean said.

Ge­netic Health Ser­vice north­ern hub team leader Kim Gamet said BRCA1 and BRCA2 were genes ev­ery­one has which func­tion as tu­mour sup­pres­sors.

“The car­rier fre­quency of a path­o­genic mu­ta­tion in BRCA1 and BRCA2 is be­tween about one in 500 and one in 800 de­pend­ing on the gene. So they are rare.”

The mu­tated forms of the BRCA1 and BRCA2 gene are both dom­i­nant genes, mean­ing a 50 per cent chance of pass­ing it onto chil­dren.

“It’s an in­her­ited pre­dis­po­si­tion to can­cer. It does not mean the car­rier will def­i­nitely de­velop a can­cer. It def­i­nitely doesn’t tell us where or when or how,” Mrs Gamet said.

Ac­cord­ing to Aus­tralasian fig­ures the genes present a 60 per cent life­time risk of breast can­cer, com­pared to 12 per cent in the gen­eral pop­u­la­tion, and a risk of ovar­ian can­cer be­tween 20 and 40 per cent, com­pared to around one per cent in the gen­eral pop­u­la­tion.

Cur­rent guide­lines when deal­ing with BRCA1 and BRCA2 in­volves risk-re­duc­ing surgery in the form of re­moval of the ovaries and fal­lop­ian tubes around the age of 40 when woman has fin­ished child bear­ing.

“That gains the best re­duc­tion in risk from hav­ing that pro­ce­dure done. It’s a very in­di­vid­ual sit­u­a­tion and choice.”

Mrs Gamet said the surgery re­duced risk by about 98 per cent.

Some women may also opt for amas­tec­tomy: the re­moval of breast tis­sue, with the best fig­ures in­di­cat­ing a 95 per cent risk re­duc­tion.

There is also in­creased sur­veil­lance for young women, who are rec­om­mended an­nual mam­mo­grams and MRIs at a younger age, from age 35.

Men also have an in­creased risk of male breast and prostate can­cer when a car­rier.

Although there are more than 60 types of can­cer syn­drome they are ex­tremely rare, and Mrs Gamet said BRCA1 and 2 were the most known about.

“Only about five to 10 per cent of can­cers that hap­pen, hap­pen be­cause of in­her­ited pre­dis­po­si­tion, so they are un­com­mon.” Jean’s daugh­ter Gwen­dol was see­ing a breast sur­geon when the topic of fam­ily his­tory first came up.

“She said we should book you for ge­netic test­ing. You’re in shock at the time and think yes, great.

“I hon­estly thought I would have been fine. I was very sur­prised when it came back pos­i­tive.

“I think we’ve just tried to be pos­i­tive and say it gives us in­for­ma­tion which en­able us to make choices that suit us bet­ter. In some ways we are are quite for­tu­nate be­cause we can do some pre­ven­ta­tive stuff.”

Jean said the sad­dest thing was pass­ing the gene to her daugh­ter, Gwen­dol, and sub­se­quently her grand­daugh­ter Emily.

“It’s gut-wrench­ing, and it’s like my daugh­ter said to me, ‘you couldn’t have known, Mum’, but you still feel as guilty as hell. I feel to­tally re­spon­si­ble.”

For Emily, how­ever, the re­sult was an ex­cuse to have chil­dren ear­lier.

“Ob­vi­ously it’s a lit­tle dif­fer­ent for me. It kind of sucks be­cause I have to have my ba­bies by 30 which means I have to speed up ev­ery pur­pose, but I’ve al­ways wanted kids so it’s not dif­fer­ent in any way.”

It is a time pres­sure her boyfriend of two years seems happy with.

“He was al­ways ex­pect­ing to have kids, so I just said it’s go­ing to be sooner than we ex­pected.”

Ev­ery mem­ber of the fam­ily have the same ad­vice for women: get your­self checked.

“If peo­ple speak to their par­ents and find out there have been a lot of mem­bers of the fam­ily dy­ing of can­cer you have to get ge­netic tests— you have to do it,” Jean said.

It’s gut-wrench­ing, and it’s like my daugh­ter said to me, ‘you couldn’t have known, Mum’, but you still feel as guilty as hell. I feel to­tally re­spon­si­ble. Jean Ne­shausean

Jean Ne­shausean af­ter her sec­ond round of chemo­ther­apy.

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