They soon found out the Larssons had accumulated a certain amount of genealogical information and contacted them for help in their project. The specialists even photocopied and sent them the 1960 study as part of the information sharing between the two parties. This, for the Larssons, was worth its weight in gold!
The report includes a genealogical chart (family tree), and even without any names or dates, anyone who knows the family well will easily identify the "female progenitor" of all the descendants on the chart as Julienne Sansfaçon, the same one mentioned before as the wife of François Marcel Bernier.
The text speaks of reliable information concerning a woman who was born in 1824 with hereditary aniridia, having gotten it from one of her parents. The authors of the report add that older members of the extended family were quite sure the defect was passed on by her mother and that at least one maternal relative was "blind" as well.
The mystery was solved: Whatever the reason for giving these people the label of perpétue, the fact remains Julienne at least was one of Perpétue’s descendants, and her descendants would be Perpétue’s descendants as well.
We know the Bernier-Sansfaçon couple had at least seven children who lived long enough for their names to appear in the censuses: Damase, Sophie, Marcelline, Philippe, Adèle, Augustin and Bélonie. Damase, Marcelline and Adèle certainly had aniridia, while Sophie and Philippe certainly did not. According to the 1960 study, either Augustin or Bélonie had it as well, but there isn’t enough information to determine which one. To have had this information, the researchers of 1959 must have had access to information present-day researchers have not yet uncovered, or perhaps there were people living in 1959 who knew about these individuals.
(NOTE: These weren‘t the only instances in which researchers came to the area to look into the aniridia phenomenon. Suzanne Lajoie remembers the visit of a doctor from Massachusetts who, while practicing in that state, had met members of the extended Grand Falls aniridia family who had resettled there. His visit came in the mid to late 1970s. The only written information we were able to track down was a letter signed by Dr. Jose F. Cordero (probably "José," written without an accent), dated June 22, 1977. The doctor’s letter was to Robert Lajoie (whom he names Robert Lejoi) to inform him of his blood type and Rh factor, with no further information concerning aniridia research. He said a "full report," would follow as soon as they were available. No report was ever received by Robert Lajoie. Furthermore, there is no more contact with the family members now living in the U.S.)
On Friday and Saturday, April 28-29, 2000, doctors Inge De Becker and Johanne Robitaille were in Grand Falls to meet people of this family, examine their eyes and take DNA samples. By then, two new generations had to be added to the chart, including the aforementioned Suzanne Lajoie and her own children (to whom her aniridia was not passed on). She and her husband had conducted their own genealogical research and generally came to the same conclusions the researchers had filed in 1959.
In order to stimulate interest in the study and attract more volunteers, Suzanne offered to be interviewed by different media. Two major media organizations accepted, the Telegraph Journal and Radio-Canada Atlantique. Therefore, in 2000, two new articles on aniridia would appear in the Telegraph Journal, this time from the point of view of a person who had aniridia and from the point of view of specialists in the eye field, both written by Catou MacKinnon.
The first article was mainly about Suzanne Lajoie, although there was also a lot said about the genealogical research undertaken by her and her husband concerning aniridia in her family. Suzanne tells the reporter she has been taking eye drops since the age of 12, and now, at 38, she wants to finally learn to read and write in Braille, because she knows her chances of becoming totally blind are high. She also talks about how other students treated her in Grand Falls schools, often calling her "stoned," because her eyes would hardly open. She says she’s looking forward to meeting with the specialists from Dalhousie University, who will be in Grand Falls to continue research into aniridia.
There is also information on her father, Robert Lajoie, who lost his sight entirely two years before, at the age of 75. His grandmother on his mother’s side was Marcelline Bernier, third child of François Marcel Bernier and Julienne Sansfaçon. She had aniridia and transmitted it to her daughter, Émilie Gagnon, who in turn passed it on to Robert Lajoie. That‘s how his daughter, Suzanne, came to have it.
This article was probably the first in a general newspaper to identify the Bernier couple as the confirmed source of aniridia. There is also mention of Perpétue Martin, Julienne’s mother, as the possible origin of the expression "perpétue,"
The article about Suzanne Lajoie made the front page of the April 27, 2000, edition. The following article published on March 3, was printed inside but was far more interesting in terms of general information. The story starts by mentioning a Dalhousie University student, Sanjoy Gupta, who was looking for a four-week research project. Dr. Inge De Becker suggests she study aniridia. The four-week project eventually stretched into two years and resulted in the development of a test to see if a person born with aniridia runs the risk of developing a type of kidney cancer. (In sporadic cases, a child must be followed for this possibility as it has been known to occur. In Suzanne’s family’s case, there was no risk as this was not a characteristic of their particular strain of aniridia.)
Later, the research started by Dr. Gupta led to renewed interest in the situation in Grand Falls. The aforementioned Dr. De Becker and a colleague, Dr. Johanne Robitaille, wanted to see the greatest number of people possible and a trip to Northwestern New Brunswick seemed to be the most logical way of accomplishing that goal. They would meet not only people who had aniridia but their brothers, sisters and children with normal eyes as well.
Furthermore, the study was also open to people with aniridia who were in no way related to the Grand Falls group. This attracted people from as far away as Saint John and the Acadian Peninsula.
Dr. De Becker explained the project was in no way premeditated. It’s just that Dr. Gupta’s research led to so much new and interesting information that no one wanted to miss the opportunity to find out even more.
While there, she also brought the Larssons up to speed concerning what was now known about aniridia. For one thing, while the same chromosome is affected in every case, the actual part of the chromosome affected varies from one family to another.
Let’s represent a particular gene by a straight line:
A strain of aniridia caused by a mutation near one end of the gene may result in a prevalence of cataracts but few cases of glaucoma. A mutation at the other end may result in many cases of glaucoma but few of cataracts. In the case of Suzanne Lajoie’s extended family, the mutation was somewhere near the middle. This manifested itself in causing a very large number of problems, including both cataracts and glaucoma. As one person put it, "what can go wrong will go wrong."
