Home­grown Health Hero

Stanstead Journal - - FRONT PAGE - Vic­to­ria Vanier, Sher­brooke

Thirty-nine years ago, a young bio­chemist named Chris­tiane Au­ray-Blais de­vel­oped a method to test the urine of new­borns for ge­netic dis­or­ders while work­ing at the Cen­tre hospi­tal­ier uni­ver­si­taire de Sher­brooke (CHUS). Since that time, the Que­bec Mass Uri­nary Screen­ing Pro­gram has, free of charge,

screened more than ,500,000 Que­bec new­borns, in­clud­ing three of my own, for twenty-five dif­fer­ent ge­netic dis­or­ders, sev­eral of which are life-threat­en­ing. I was lucky I never got the phone call from Dr. Au­ray-Blais who has called hun­dreds of par­ents with the heart-break­ing news that some­thing is wrong with their baby.

“The mis­sion of the pro­gram is to de­tect ge­netic dis­or­ders early and to give treat­ment,” she ex­plained in an in­ter­view at the CHUS’s Cen­tre de

Recherche Eti­enne LeBel.

As we pre­pared to tour the lab­o­ra­tory where the urine screen­ing for the en­tire prov­ince takes place, Dr. Au­ray-Blais couldn’t hide her en­thu­si­asm as she talked about her re­search “Mass spec­trom­e­try is such a ro­bust tech­nol­ogy for screen­ing, diagnosis, mon­i­tor­ing, fol­low-up... e were the first med­i­cal cen­tre to ac uire a mass spec­trom­e­ter in Que­bec.”

The lab­o­ra­tory it­self seemed like the model of ef­fi­ciency and sim­plic­ity as Dr. Au­ray-Blais took me through each step of the screen­ing process, from open­ing the du­ti­fully-re­turned en­velopes, sent in by anx­ious moth­ers and fathers, and iden­ti­fy­ing each sam­ple, to the fi­nal step of iden­ti­fy­ing the mark­ers, now re­veal­ing them­selves on small, re­us­able panes of glass, that in­di­cate dis­or­ders.

“ e an­a­lyse five hun­dred sam­ples a day. ur team of six analy­ses ,000 sam­ples a year. hat’s most im­por­tant is to de­tect early, con­tact the per­sons and treat early,” said the doc­tor. All of the dis­or­ders are treat­able, but left un­treated, some can lead to se­vere in­tel­lec­tual im­pair­ment, coma or even death. “ e can de­tect a dis­or­der that causes kid­ney stones, which can de­stroy a kid­ney. Some­times the treat­ment, like for that dis­or­der, is just to give ex­tra wa­ter to the child.” ther treat­ments may be ei­ther a low or high pro­tein diet.

Al­though this screen­ing pro­gram falls un­der the Réseau de Médicine géné­tique du Québec, the com­mu­nity has also played an im­por­tant role, thanks in large part to Dr. Au­ray-Blais’ be­lief in the good­ness of oth­ers and her au­da­cious abil­ity to ask for help.

It started with the ar­rival of ul­tra­ab­sorbent di­a­pers on the mar­ket in the 1 0’s. “ e started get­ting urine sam­ples that were not good not enough urine. So we made a kit with a spe­cial blotter, but we didn’t want to ask the gov­ern­ment for more money. In­stead I went to Proc­tor Gam­ble and told them ‘Your di­a­pers are too good. e can’t do our screen­ing.’ They gave me 35,000 to make the new kits ”

But the 35,000 only lasted for three years so Dr. Au­ray-Blais had to come up with a new plan. “I knew the blot­ters were man­u­fac­tured at Cas­cades, so I met the di­rec­tor, Lau­rent Le­maire.”

nce he learnt what the blot­ters were for, he said “This is good. e’ll help.” To­day, Cas­cades brings the pa­per to

Transcon­ti­nen­tal where the en­velopes, sup­plied by the Supre­max com­pany, and in­struc­tions are printed. The blot­ters and in­struc­tions are then put into the en­velopes by clients of the Cen­tre

de Réadap­tion de l’Estrie and ACT (As­so­ci­a­tion des ac­ci­dents cere­brovas­cu­laires et trau­ma­tis e).

“It’s a great synergy be­tween the pub­lic health sys­tem and pri­vate in­dus­try.”

As we passed by the neat rows of small glass jars hold­ing the lit­tle cir­cles of pa­per on our way to an­other lab­o­ra­tory where Dr. Au­ray-Blais and her team con­duct ground-break­ing re­search, she paused to add “For us, it’s not a fil­ter pa­per, it’s a baby.”

Dr. Au­ray-Blais’ abil­ity to at­tract fi­nan­cial sup­port for her work from the pri­vate sec­tor was even more ap­par­ent in the sec­ond lab­o­ra­tory, one filled with some very large and un­usual-look­ing in­stru­ments with even more un­usual names, like a Sy­napt UPLC QT F, which stands for “Ul­tra per­for­mance li uid chro­matog­ra­phy uadru­ple time-of-flight”, used for re­search on ‘metabolomics’.

“ e wanted to look at biomark­ers so I phoned Waters (the com­pany that man­u­fac­tures the in­stru­ments) and asked if they could lend me a sys­tem for five years. Fi­nally they de­cided to give us the ma­chine a gift of 1,100,000,” said the re­searcher who reg­u­larly trav­els around the world to present her life-sav­ing re­search and who has been pub­lished in the pres­ti­gious jour­nal

Science. An­other, smaller ma­chine in the lab­o­ra­tory is be­ing well-used thanks to a gen­er­ous Sher­brooke busi­ness­man. “He gave me 00,000 for the ma­chine af­ter he saw a seg­ment on the Ra­dioCanada T show Decouverte about a lit­tle child that was helped through the screen­ing pro­gram.”

I asked the world-renowned re­searcher, who grew up in Sher­brooke and now lives in St. Malo, how she de­cided to work in the field of health science. “ hen I was around 1 , I re­mem­ber go­ing to the Université de

Sher­brooke to see a science ex­hi­bi­tion and thought this is in­ter­est­ing. And my brother was in chem­istry.”

She also spoke about what she likes best about her ca­reer, which en­com­passes not only the po­si­tion of Di­rec­tor of the Que­bec Mass Uri­nary Screen­ing Pro­gram and Ser­vice of Ge­net­ics, but also that of As­so­ciate Pro­fes­sor at the Fac­ulty of Medicine and Health Sci­ences, Depart­ment of Pe­di­atrics, at the Université de Sher­brooke. “I work with ded­i­cated peo­ple. hen you work long hours you need keen peo­ple work­ing with you a tight team. But what’s most grat­i­fy­ing is to do preven­tive gen­eral medicine to pre­vent dis­or­ders and save lives in the pe­di­atric pop­u­la­tion.

hen you have kids, you want them to be healthy and happy, and when you know you can pre­vent a child from get­ting sick-that’s the best thing,” said the mother of two.

hat’s most chal­leng­ing about her job is find­ing the money to do the re­search. As she ex­plained how dif­fi­cult and com­pet­i­tive it was to ap­ply for sci­en­tific grants, the bio­chemist seemed gen­uinely dis­ap­pointed that time she could spend do­ing re­search was eaten up by that fi­nan­cial process. Con­vinc­ing wealthy in­di­vid­u­als to do­nate money to buy such un­fa­mil­iar yet ex­pen­sive items like mass spec­trom­e­ters is also a chal­lenge. e both laughed when I asked Dr. Au­ray-Blais what she was read­ing at the mo­ment and she ad­mit­ted “ Per­sua­sion, by Jane Austen ”

“But when I ask for some­thing, it’s not for my­self I’m ask­ing for the ba­bies of Que­bec.”

Roughly ninety per­cent of Que­bec par­ents have sent in their baby’s urine sam­ple at 1 days of age to this pro­gram. Those who haven’t are still able to send in a late sam­ple since, as they say, bet­ter late than never For more in­for­ma­tion you can call the Mass Uri­nary Screen­ing Pro­gram at 1 5 - 5 53.

n be­half of the Stanstead Fire Depart­ment, we’d like to thank ev­ery­one who came out to sup­port us at last Satur­day’s dance. A to­tal of , 10.00 was raised for the fire­men’s as­so­ci­a­tion. Spe­cial thanks to Stanstead Col­lege for the use of the hall, to all the donors of door pri es (over in all ), to rin and Gina for bar­tend­ing, to the set up and tear down crew, the band for great mu­sic, the Jour­nal for the ar­ti­cle, and the list goes on. e’d also like to thank our brothers in Len­noxville for their do­na­tion. As al­ways, to the per­son(s) we’ll for­get to men­tion here, a big thanks to you too. e are very lucky to have the sup­port of a great com­mu­nity. See you next year Sin­cerely,

Your Fire­fight­ers

How would you feel if you went out for your morn­ing cof­fee only to re­turn home to find the en­tire con­tents of your house be­ing thrown reck­lessly into four large dump­sters hat if a town in­spec­tor re­sponded to your dev­as­ta­tion with a smirk and asked you sar­cas­ti­cally how you were this morn­ing hat if you at­tempted to re­trieve some­thing you cher­ished only to be threat­ened with forcible re­moval by authorities if you pro­ceeded

This is ex­actly what hap­pened last Mon­day morn­ing to Len­noxville res­i­dent Terry Moller, a res­i­dent of 3 Prospect for the past two decades.

hen I spoke to Terry shortly af­ter, he lamented the ir­re­triev­able loss of his child­hood coin, stamp and fos­sil col­lec­tions, old fam­ily pho­to­graphs, hand­made gifts from his son and a life­time of work as an artist. very­thing from the con­tents of shelves and draw­ers to house­plants, lamps and pic­tures hang­ing on the walls - even his clothes were ruth­lessly thrown into garbage bins.

Upon prior urg­ings by the town, Terry had al­ready sub­stan­tially re­duced the con­tents of his house over the past weeks, and thought his ef­forts had been ade uate. As one who had been in Terry’s house in the days prior to its emp­ty­ing, I can only be thank­ful that I do not re­side in a town that dic­tates the na­ture of what the in­te­rior of one’s house can con­tain, as many in­clud­ing my­self would ex­ceed the bound­aries of what Len­noxville’s in­spec­tors con­sider “nor­mal”. Those re­spon­si­ble for this act of bla­tant cru­elty cer­tainly suf­fer from a greater af­flic­tion than the ten­dency to hoard things, namely a com­plete lack of com­pas­sion for some­one al­ready liv­ing marginally.

Ap­par­ently even if your neigh­bors have never com­plained, if you are a peace­ful, hon­est and well-liked citi en, all of your be­long­ings can be con­fis­cated if Len­noxville’s in­spec­tors think you have too much stuff in your house. In some places in­spir­ing doc­u­men­taries are made about artists whose vi­sion it is to re­cy­cle and transform what oth­ers thought­lessly dis­card. In Len­noxville, such vi­sion­ary artists are dealt with with ag­gres­sion, hu­mil­i­a­tion and a to­tal dis­re­gard for ba­sic hu­man rights.

A crime has been com­mited by those in power in Len­noxville, one that must not be over­looked by the rest of us.

Tanya Mc ntyre

Dr. Au­ray-Blais (l.) and Jo­ce­lyne Ther­rien have worked to­gether for over 30 years on the new­born screen­ing pro­gram.

Stand­ing in front of a tan­dem mass spec­trom­e­ter are (l.

to r.) re­search asst. Me­lanie Fortin, Mas­ters stu­dent Pamela

Lavoie and Dr. Au­ray-Blais.

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