Homegrown Health Hero
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,
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.