Cree Leukoencephalopathy (CLE) and Cree Encephalitis (CE) are grim cousins. Both are genetic diseases found in Cree populations, and together they are a significant causes of death of Cree infants. Infants with CE are born unhealthy and usually die before the age of two, although some children have lived into their teens before succumbing; CLE is not apparent at birth but usually sets in after the infant’s first fever, usually at around three to nine months, and children die of CLE shortly after.
Today, the work of the Eeyou Awaash Foundation (the parents’ group founded in 1999 by Annie Bearskin after her grand-daughter died of CLE), the Cree Health Board, and a team of researchers based at Montreal’s Ste-Justine Hospital, has produced considerably more knowledge about these diseases, and this has led to some important initiatives. Both CE and CLE are recessive diseases, so an individual can carry the genetic mutation for the disease without knowing or being affected by it. However, if both partners in a couple carry the mutation, there is a one-in-four chance of each of their children being born with the disease. So in 2006 the Cree Health Board launched its CLE-CE Education and Genetic Carrier Screening Program in clinics and secondary schools to inform participants about the diseases, offer genetic screening tests to determine if they carried the mutation, and explore their options should they be carriers.
The program has had many participants over the years, having tested 746 individuals for CE and 693 for CLE. However, until this past year which saw the launch of a comprehensive, three-part evaluation process, the program itself had never been assessed to see how well it works. “We are evaluating the program now because we need to know how people feel about it, and what they are learning about CE and CLE,” says Valérie Gosselin, the community health nurse in charge of the CLE-CE Education and Genetic Carrier Screening Program. “We want to know how well it is working and how we can improve it to better meet the population’s needs.”
The first stage of the evaluation was recently completed, and involved an analysis of all data gathered since the program’s 2006 launch. The results, which were presented to health care workers in the region, as well as at conferences in Boston and Toronto this past fall, will not only help guide the remaining two stages of the evaluation but also add significantly to current knowledge about the diseases.
One important discovery is that more people may carry the genes for CE than had been previously suspected: 5.9% of screened Eeyou/Eenou, or approximately one in 17 (instead of the “one-in-30” ratio used as a guideline before the data analysis). Numbers for CLE remain roughly the same as previous estimates, at 9.2% or roughly one in 11. While these findings are informative, they are not surprising. “The more people are tested, the more data we have, which gives us more accurate carrier rates,” says Gosselin. “These estimates will continue to change as more people have tests and we acquire more data.”
Another finding is that couples encountering the presentation on CE-CLE at a clinic are much likelier to follow up with genetic screening than students who receive it in school; while 41% of students offered the genetic test chose to be screened, a full 85% of those who chose to meet with the program nurse in the clinic followed through with screening. “In the clinic we are talking with couples who are going to be having babies, so it’s a bit more real for them,” says Gosselin; indeed, 70% of women screened in the clinic are pregnant. “In school, students are not really thinking about having babies, so they think ‘Why take the test?’”
The second stage of the evaluation was launched this fall in Waskaganish. In this stage, participants are asked to complete a survey prior to the educational presentation on CE and CLE so that their prior knowledge can be assessed. Then, after the presentation, they complete a second survey. “We want to see how they feel about the presentation and the screening test and to see if the presentation really helps them learn new things about these diseases,” explains Gosselin. The information will help the Cree Health Board and the Eeyou Awaash Foundation to make any necessarychanges to ensure that the presentations are effective.
The third and final stage of evaluation will follow in another six to twelve months, as participants in the survey will be contacted again to assess how much information they retain from the presentations, and, if they chose to be tested, to see whether they recall their results. “If at the end people don’t remember very much, then that will mean that we need to find ways to improve the presentations,” says Gosselin. “We want to make sure that everyone understands CE and CLE, and knows what we are offering with the educational and screening program.”