THE END OF DOWN’S?

Pre­na­tal test­ing is driv­ing an in­crease in ter­mi­na­tions of Down syn­drome ba­bies around the world. Crit­ics say this push for per­fec­tion is not a health is­sue, but eu­gen­ics

The Advertiser - SA Weekend - - UPFRONT - WORDS MICHAEL MCGUIRE & IAN BIRRELL PIC­TURE MATT TURNER

Pre­na­tal test­ing has dra­mat­i­cally cut the num­ber of Down syn­drome births. Not ev­ery­one thinks that’s good.

Char­lotte Roach is five years old. A lit­tle blonde bun­dle of en­ergy wrestling on the couch with her older sis­ter Alyssa one minute, sit­ting with brother Bai­ley in rapt at­ten­tion in front of the TV the next. Your reg­u­lar five-year-old then. With one dif­fer­ence. Char­lotte has Down syn­drome.

There are an es­ti­mated 1000 South Aus­tralians with the con­di­tion, and around 15-20 ba­bies born with it each year in the state.

But an im­por­tant eth­i­cal ques­tion is brew­ing about the way West­ern so­ci­eties deal with Down syn­drome, a con­di­tion marked by an ex­tra chro­mo­some, some dis­tinc­tive phys­i­cal fea­tures and a vari­able level of in­tel­lec­tual dis­abil­ity. It is pre­dicted that soon in some coun­tries, such as Den­mark, there will be no more chil­dren born with the con­di­tion as the ac­cu­racy of pre­na­tal test­ing and the rate of ter­mi­na­tions in­crease.

In Char­lotte’s case, the first sign she may have had the syn­drome was dis­cov­ered at a regulation 20-week scan. At that stage it was just one of a num­ber of pos­si­ble ab­nor­mal­i­ties. Mother Sa­man­tha and fa­ther Daniel were sent to a see a spe­cial­ist pae­di­a­tri­cian to talk about their op­tions.

The scan was on a Wed­nes­day but it was not un­til the fol­low­ing Mon­day they could see the spe­cial­ist. “You try not to Google ev­ery­thing but you can’t help your­self,” Sa­man­tha says. “It was a long week­end.”

Sa­man­tha is grate­ful the pae­di­a­tri­cian was neu­tral, not push­ing them one way or the other. That is not al­ways the case. Another spe­cial­ist they say “read from a textbook from the ’60s” and gave out­dated in­for­ma­tion.

But af­ter that first meet­ing, Sa­man­tha and Daniel de­cided not to have any more tests done and to con­tinue with the preg­nancy.

“She in­stantly re­spected our de­ci­sion when we said we weren’t in­ter­ested in ter­mi­na­tion and moved straight on,” Daniel says.

But at 28 weeks, Char­lotte needed fluid drained from her lungs in utero and while the pro­ce­dure was tak­ing place, Sa­man­tha also had an am­nio­cen­te­sis – in which a nee­dle ex­tracts fluid from the am­ni­otic sac sur­round­ing the foe­tus – to check the prospect of Down syn­drome.

“We al­ways had it in our heads,” Sa­man­tha says. “Be­ing told, even though you have it in your head that it’s a pos­si­bil­ity, when you are told it’s like be­ing hit by a bus.”

But there were no re­grets ei­ther.

“By that stage we were look­ing for­ward to meet­ing her and cer­tainly didn’t want to ter­mi­nate – par­tic­u­larly at that late stage,” Daniel says.

Down syn­drome was first de­scribed by a British doc­tor in 1866 and af­fects six mil­lion peo­ple world­wide. But there have been sig­nif­i­cant ad­vances in re­cent decades with life ex­pectancy more than dou­bling, with many get­ting mar­ried, hold­ing jobs and en­joy­ing full lives.

Re­search has found these peo­ple, who are born with an ex­tra 21st chro­mo­some, to be among the most sat­is­fied in so­ci­ety with their lives and looks, bring­ing joy to fam­ily and friends.

But cru­saders such as bi­ol­o­gist Richard Dawkins claim it is “im­moral” to bring such chil­dren into the world if sci­en­tific ad­vances of­fer choice. “Abort it and try again,” he told one woman strug­gling with the is­sue.

Other aca­demics have even raised the shock­ing spec­tre of ter­mi­nat­ing ba­bies with Down syn­drome af­ter birth, ar­gu­ing they might be happy in­di­vid­u­als but are an “un­bear­able bur­den” on fam­i­lies and state re­sources.

Daniel Roach is dis­gusted with the “eu­gen­ics” world view pro­pounded by peo­ple such as Dawkins.

“What is says to me is that they are not even worth be­ing born and that is a very hard line ap­proach,” he says. “That sort of the­ory has been pop­u­lar in the past. Look at Nazi Ger­many and where that got us.”

And, he says, if you start with Down syn­drome where do you end?

“There is a whole bunch of com­pli­ca­tions that can oc­cur af­ter birth or dur­ing birth that can be far worse,” he says.

“It’s like say­ing, ‘you suf­fered this brain in­jury, well we could have ter­mi­nated you at birth, why don’t we just eu­thanase you now?’ How far do we want to go?”

Daniel and Sa­man­tha lim­ited the news about Char­lotte to only a few close fam­ily and friends. They didn’t want Char­lotte to be only de­fined by her Down syn­drome.

“If peo­ple were la­belling her be­fore they ever met her, that is all the would ever see,” Sa­man­tha says.

It’s that la­belling that most both­ers Char­lotte’s par­ents. The myths and the stig­mas that sur­round the con­di­tion are mostly based on an old-fash­ioned per­spec­tive of what peo­ple with Down syn­drome are ca­pa­ble of ac­com­plish­ing.

“It’s easy to pick be­cause of fa­cial char­ac­ter­is­tics so peo­ple think they know about it in so­ci­ety,” Sa­man­tha says. “I think that’s why it’s tar­geted.”

“I think the big­gest is­sue is be­cause they have a diagnosis it’s re­ally easy to pi­geon­hole them,” says Daniel. “The more we have been in­volved in the (Down syn­drome) com­mu­nity the more you re­alise you can’t pi­geon­hole.”

Ellen Sk­ladzien is the chief ex­ec­u­tive of Down Syn­drome Aus­tralia and says one of the big­gest prob­lems fac­ing par­ents of chil­dren who may have the con­di­tion is the lack of knowl­edge, not just in the com­mu­nity but in the med­i­cal fra­ter­nity.

“What we have is doc­tors telling fam­i­lies their child will have a life­time of suf­fer­ing or they will never go to school or it will be dev­as­tat­ing for their mar­riage,” she says. “We know all these things are un­true.”

In the 1970s the av­er­age life ex­pectancy for some­one with Down syn­drome was around 25. Now peo­ple are liv­ing into their 60s and 70s. The role of Down Syn­drome Aus­tralia is to bet­ter in­form doc­tors and to bring to­gether fam­i­lies af­fected by Down syn­drome to help each other and share knowl­edge.

Char­lotte Roach has been to main­stream child care, main­stream kindy, main­stream dance classes and will start main­stream school later this year.

The num­ber of ba­bies born with Down syn­drome is hard to pin down in Aus­tralia. There is no na­tional reg­is­ter. But there is ev­i­dence else­where in the world that the birth of a Down syn­drome child is in­creas­ingly rare.

The most re­cent fig­ures avail­able in South Aus­tralia are from 2013. That year, pre­na­tal screen­ing picked up 64 cases of Down syn­drome. Of those, 48 preg­nan­cies were ter­mi­nated and 16 pro­ceeded to birth. A ter­mi­na­tion rate of 75 per cent puts South

Aus­tralia in line with na­tions such as the US and France.

By com­par­i­son, in 1988 in SA only 21 per cent of the 28 Down syn­drome cases were ter­mi­nated. The ra­tio had risen to 74 per cent by 2003, but the num­ber of di­ag­noses (and there­fore ter­mi­na­tions) had also in­creased markedly as more women over the age of 35 be­came preg­nant. The older the mother, the higher the risk.

In fu­ture, as test­ing be­comes in­creas­ingly so­phis­ti­cated, it is likely that more and more Down syn­drome preg­nan­cies in Aus­tralia will be ter­mi­nated.

In Bri­tain, a new blood test – Non-In­va­sive Pre­na­tal Test­ing – which of­fers sim­pler and more ac­cu­rate screen­ing for Down syn­drome and some other ab­nor­mal­i­ties is be­ing rolled out across the Na­tional Health Ser­vice.

It has pro­voked the Church of Eng­land to warn the ex­is­tence of peo­ple with Down syn­drome is “un­der ques­tion”. Al­ready, the United King­dom ter­mi­nates around 90 per cent of Down syn­drome preg­nan­cies, while in Ice­land and Den­mark it is now close to 100 per cent, with pre­dic­tions that soon no more chil­dren with the con­di­tion will be born.

It’s a tough chal­lenge for any par­ent. Erica Gaarn-Larsen, from Den­mark, says she prob­a­bly would have aborted her son Philip if the scans had picked up the ab­nor­mal­ity.

“I did not want a child with dis­abil­ity,” the 47-year-old con­cedes. “I thought my life would be changed and maybe even ru­ined. I had no real knowl­edge, just the feel­ing this would be some­thing ter­ri­ble.”

She only dis­cov­ered the sec­ond of her three chil­dren had a learn­ing dis­abil­ity af­ter his birth. “I had 24 hours of go­ing through hell think­ing, ‘Why did this hap­pen to me?’ ” she says. “But then I looked at my lovely lit­tle baby and de­cided we could han­dle this. Now I can think of 100 things worse in life than hav­ing a dis­abled child.”

The Scan­di­na­vian coun­try is close to the world leader in elim­i­nat­ing the con­di­tion. In Den­mark there were 80 born with Down syn­drome in 1999 – but by 2016 the num­ber had fallen to just 24.

Of those, only four were born af­ter pos­i­tive pre­na­tal diagnosis. The Scan­di­na­vian na­tion has the world’s high­est ter­mi­na­tion rate in such cases, with 98 per cent de­tected in the womb aborted. As men­tioned, that is likely to rise with more ac­cu­rate, less risky test­ing.

Den­mark now faces the real pos­si­bil­ity that it could be­come the first na­tion to wipe out Down syn­drome al­to­gether. And others are likely to fol­low.

Den­mark is a de­cent, open, so­phis­ti­cated na­tion. Yet its ex­pe­ri­ence shows, some crit­ics

“Par­ents want a per­fect child and the med­i­cal pro­fes­sion is en­cour­ag­ing them.” – PRO­FES­SOR JOHN BRODERSEN

say, we are slid­ing into a new age of eu­gen­ics with scarcely a mur­mur of dis­sent and min­i­mal dis­cus­sion of ethics, moral­ity or the com­plex mean­ing of hu­man­ity.

“We are mov­ing to­wards elim­i­nat­ing Down syn­drome and some other dis­abil­i­ties,” says John Brodersen, pro­fes­sor in pub­lic health at the Univer­sity of Copen­hagen. “There’s no doubt this is eu­gen­ics.”

Over the past three years, only eight of the 407 Dan­ish cases de­tected in pre­na­tal screen­ing sur­vived to birth. Another 83 chil­dren with the syn­drome were born af­ter false-neg­a­tives, such as Philip, or be­cause their par­ents re­jected test­ing.

Like Ellen Sk­ladzien in Aus­tralia, Brodersen blames the med­i­cal pro­fes­sion for paint­ing too stark a pic­ture for par­ents as they con­front the prospect of life with a dis­abled child.

“Par­ents want a per­fect child and the med­i­cal pro­fes­sion is en­cour­ag­ing them,” he

says. “They present a very black and white case, but even within Down syn­drome peo­ple are dif­fer­ent. Yet they are be­ing seen as mon­sters, far from hu­man be­ings.”

He ar­gues that as num­bers plum­met, tol­er­ance de­clines. “They are more likely to be re­garded as aliens,” he says. “To­day when peo­ple meet a child with such a dis­abil­ity they won­der why was it not ter­mi­nated or was there a tech­ni­cal mis­take.”

This is tough moral ter­rain. Some be­lieve women should be able to choose an early abor­tion, just as pho­tog­ra­pher Line Morell Holm did last year af­ter it was con­firmed that her 12-week-old foe­tus had Down syn­drome.

“I was in shock and cry­ing but I knew right away I was go­ing to have an abor­tion,” says Holm, 40, a mother of two boys from Vi­borg in Jut­land, Den­mark.

Un­like many peo­ple, she had some in­sight, hav­ing worked on a doc­u­men­tary about peo­ple with the con­di­tion. “I knew it would make a big im­pact on my fam­ily for the rest of our lives and on my chil­dren when I am no longer here.”

Holm has no re­grets. Yet where is the de­bate over the col­lec­tive im­pact of ra­tio­nal in­di­vid­ual de­ci­sions as they weed out peo­ple that add to the diver­sity of hu­mankind?

Den­mark is in the van­guard of this brave new world since it has a lib­eral ap­proach to abor­tion, partly due to his­tor­i­cally high fe­male par­tic­i­pa­tion in the work­place. Polls show ma­jor­ity sup­port for ter­mi­nat­ing foe­tuses in­di­cat­ing Down syn­drome.

Any woman in Den­mark can ter­mi­nate a preg­nancy dur­ing the first 12 weeks, then for the next 10 weeks if agreed by spe­cial re­gional boards that there is a chance of se­ri­ous men­tal or phys­i­cal dis­or­der, which is deigned to in­clude Down syn­drome.

Ann Tabor, pro­fes­sor of foetal medicine at Rigshos­pi­talet in Copen­hagen, coun­sels many cou­ples in this sit­u­a­tion. “Most are just so sad and an­gry that some­thing is not nor­mal,” she says. “They come in ex­pect­ing a scan pic­ture for the fridge and sud­denly they do not have the per­fect child they ex­pected. Most par­ents want a nor­mal child. We know the IQ [of Down’s chil­dren] is con­sid­er­ably less than that of a nor­mal child. They are not such a big bur­den when small but can be dif­fi­cult as teenagers and be­yond. They do not have such a big im­pact on so­ci­ety.”

She de­nies high ter­mi­na­tion rates mean peo­ple with Down syn­drome are less val­ued – although she ac­cepts that in a “per­fec­tion­ist so­ci­ety” there is less space than in the past for peo­ple dis­play­ing such dif­fer­ences.

Eu­gen­ics is now a shamed con­cept. A cen­tury ago, aca­demics and writ­ers de­bated ideas of elim­i­nat­ing hu­man “de­fi­cien­cies”, the­o­ries that led with dread­ful logic to the Nazi death camps. Yet al­most three decades ago, Troy Duster, a far­sighted New York so­ci­ol­o­gist, warned that sci­ence and ge­net­ics were un­leash­ing a new era of eu­gen­ics through “screens, treat­ments and ther­a­pies”. Now this age is ar­riv­ing.

When talk of mass test­ing be­gan in Den­mark late last cen­tury, there were even sug­ges­tions that it was cheaper to screen since it re­duced the num­bers need­ing care.

One se­nior doc­tor openly talks about the “cost-ef­fec­tive­ness” of screen­ing, while others fear this still un­der­pins the is­sue for politi­cians, in­clud­ing Lil­lian Bondo, head of the Dan­ish Mid­wives As­so­ci­a­tion, whose own sis­ter Ida had Down syn­drome. Bondo ad­mits to be­ing con­flicted over this is­sue, agree­ing that most par­ents “in­stantly” seek ter­mi­na­tion when faced with a Down syn­drome baby and read­ily ac­cept­ing that med­i­cal ad­vances are im­prov­ing lives.

But she fears we are see­ing more chil­dren born with se­vere dis­abil­i­ties, es­pe­cially when very pre­ma­ture ba­bies are kept alive de­spite com­pli­ca­tions, while mi­nor con­di­tions such as Down are be­ing “re­moved” by medicine.

“So­ci­ety is creat­ing some new hand­i­caps while try­ing to root out others,” she says. “Per­haps we should es­tab­lish a pain thresh­old based on suf­fer­ing?”

She wants more recog­ni­tion that peo­ple with Down syn­drome lead valu­able lives. “But when you are hav­ing only 25 peo­ple born each year, not 150, this means there is much less chance to meet such a child,” she says.

A few fam­i­lies with a Down syn­drome child, feel­ing un­wel­come in Den­mark, have even fled to Nor­way. “The sig­nal be­ing sent is that so­ci­ety does not want peo­ple with Down syn­drome,” says Lars Brus­tad, sec­re­tary of the Nor­we­gian Net­work for Down syn­drome.

“In my opin­ion this is a hor­ror story. It is very dif­fi­cult for par­ents like me to un­der­stand. There is no rea­son to of­fer these abor­tions when peo­ple with Down syn­drome can live good lives.”

This is­sue re­flects the lin­ger­ing hos­til­ity to­wards peo­ple who are not “nor­mal”. And such fears are ex­ac­er­bated by the crush­ing fight for sup­port that faces par­ents of dis­abled chil­dren in coun­tries such as Bri­tain and Den­mark. Yet Brus­tad, a re­tired banker, be­lieves the Danes are only be­ing more open about this dawn of a new eu­gen­ics.

Copen­hagen psy­chol­o­gist Line Natascha Larsen, 41, has a seven-year-old son, Au­gust, with Down syn­drome. Larsen ad­mits she and hus­band Max were sad when their child was di­ag­nosed but she learned a key les­son from an adult with the con­di­tion. “He told me to be­lieve in my child,” she says. “Don’t pro­tect him but help him achieve ev­ery­thing he can.”

She has done just that. “Au­gust is so warm and lov­ing, very funny and liv­ing in the present,” says Larsen. “Yet those peo­ple seen as a bit dif­fer­ent can make some others un­com­fort­able in­stead of be­ing em­braced for en­rich­ing so­ci­ety.

“We are go­ing to make our world so much more bor­ing with this quest for per­fec­tion.”

Back in Seaford Downs, the Roach fam­ily is happy in the chaos that only hav­ing three chil­dren un­der the age of 10 can bring. Sa­man­tha and Daniel have the same hopes and dreams for Char­lotte as they have for their other kids Alyssa and Bai­ley.

“In her 20s she moves out like the other two,” says Daniel. “I ex­pect her to get a job, I don’t ex­pect her to be re­liant on other peo­ple. I ex­pect her to learn to drive like the other kids, I ex­pect she might get mar­ried. I don’t ex­pect her not to do those things.

“It sounds silly when you say it, but you sort of for­get she has Down syn­drome most of the time. Ba­si­cally she’s sim­ply one of our kids – not re­ally more or less spe­cial than the other two.”

Daniel and Sa­man­tha Roach with their chil­dren Bai­ley, 8, Char­lotte, 5, and Alyssa, 9

Pic­ture: Philip Ide /Mail on Sun­day/SOLO Syn­di­ca­tion

Erica Gaarn-Larsen with her six-year-old son Philip, who has Down syn­drome

Newspapers in English

Newspapers from Australia

© PressReader. All rights reserved.