The iris is what gives an eye its "colour". When we say a person has blue eyes, brown eyes, green eyes, etc., we’re actually talking about the colour of the iris.
Aniridia is something of a misnomer. In most cases, there is usually a stump, an undeveloped iris which cannot be seen by the naked eye. Therefore, their eyes are considered black since we only see the pupil. People with aniridia have a greater risk of developing eye diseases such as glaucoma and cataracts. Most people with aniridia are visually impaired and, without medical treatment – or sometimes despite that—many will lose their sight completely.
Aniridia is caused by a defect on the PAX6 gene of chromosome 11p13. An error in the nucleotide sequence prevents the proper development of the iris and causes other structural defects in the eye. This mutation may happen sporadically (out of the blue, by chance) or it may be transmitted from one of the parents. Of course, if one person has sporadic aniridia, he or she has fifty-fifty chance of transmitting the defect to her children.
In the Grand Falls area, with few exceptions, all cases of aniridia are hereditary in nature. Aniridia is an autosomal dominant condition. This means it is not found on a sex chromosome and is not a recessive trait. This means each and every child born to a person with aniridia has will have a 50 per cent chance of being born with the condition.
The present-day limits of Northwestern New Brunswick are included in full black for information purposes. The pointed line shows the easternmost limit of the historical Madawaska based on present-day demographic distribution. Traditionally, it should not go any further east than the falls at Grand Falls. It stretches north to south from the Témiscouata Lake inclusively down to the Aroostook River. Its westernmost point does not seem to be inhabited on a permanent basis, so it is not shown here.
The particular strain of aniridia dealt with in this blog dates back to the beginnings of an Acadian settlement along the St. John River, and a family which played a certain role in shaping the social mores in and around present-day Grand Falls, N.B.
Today, Madawaska is simply a county in the northwest corner of New Brunswick, the panhandle of this particular province. However, Madawaska used to include that county, the Lac Témiscouata valley in Quebec, much of northern Aroostook County in Maine, U.S.A., and, of course, the Grand Falls and Drummond areas of Victoria County, N.B. Many call this "le Grand Madawaska" or "le Madawaska historique," historical Madawaska.
This vast area was settled by Acadians from Sainte-Anne-des-Pays-Bas, which has since been renamed Fredericton, the capital city of New Brunswick. The first Acadian settlers started arriving in about 1785. Although it was an Acadian settlement, many from "Canada" (Quebec) started arriving in great numbers as well. The first establishment was at Saint Basile.
Although the first non-aboriginal inhabitants came from present-day New Brunswick and Quebec, the U.S. state of Maine also claimed jurisdiction over the area due to a badly written earlier treaty. It took several decades but diplomatic negotiations resulted in the Ashburton-Webster treaty in 1842 which effectively separated the colony in two with the inhabitants of the south shore of the St. John River becoming U.S. citizens. Later, Quebec claimed the Témiscouata valley for itself and Madawaska was carved up further. When Victoria County was split in two, with the northern part becoming Madawaska County, Grand Falls and Drummond, which included a large number of descendants of the first settlers of Madawaska, were kept within Victoria, so it could be said the Madawaska area had once again lost part of its territory. Unless otherwise specified, any reference to Madawaska in this article shall be to the historical Madawaska.
Aniridia has been present in the Grand Falls area since at least 1851, the year in which the census shows a couple, François Marcel Bernier and Julienne Consigny dit Sansfaçon, in the civil parish of Saint-Léonard. At that time, the parish included the present-day civil parish of Saint-André, just north of Grand Falls.
In the census, the couple is listed as already having a son named Damase. Eyewitnesses still living in the 1990s confirmed that Damase had aniridia. They could also confirm that his sister, Marcelline, had aniridia. Therefore, the condition has been present in the Grand Falls areas since at least the mid 1850s.As we’ll see further on, all people in the Grand Falls area that have aniridia, with few exceptions, are descended from this couple.
People with aniridia had a handicap that was relatively easy to notice. They saw well enough when they were young to learn manual skills and some were even employed despite their disability. Damase Bernier even ran a farm of his own in the Drummond area, which he later sold to his son, Odose. However, without the various treatments available today, blindness would almost certainly come some day.
Also, this condition was so rare throughout the world that no one in the area seemed to know its scientific name. This shouldn’t be surprising as it wasn’t described scientifically until 1819 and called "irideremia". Given the state of education and communications at the time, it would be awhile before people would hear the word aniridia. So, they came up with a designation of their own: perpétue.
We may never know the true origin of the term or why it was adopted. However, there are two competing theories. The first is that the ancestors came from Sainte-Perpétue, Quebec. The other theory is that these people are all descendants of a person named Perpétue, that is Perpétue Martin, mother of Julienne Sansfaçon.
After all this time, could there a way of establishing whether or not this particular strain of aniridia came from one line or the other? The answer would come from a surprising source.
