Fighting the children’s disease that cannot be cured

After Annie Bearskin’s granddaughter died of Cree Leukoencephalopathy (CLE) in the late 1990s, she set out to learn more about the little-known disease. What she discovered was that CLE and another condition, Cree Encephalitis (CE), were among the leading causes of death of Cree infants. CLE and CE are both genetic mutations, both attack the infant’s neurological system, neither has a cure, and both are inevitably fatal. Infants with CE are born unhealthy and usually die in early childhood, at between five and twelve years, while CLE is not evident at birth but usually sets in after the infant’s first fever, usually at around six to nine months, and kills children shortly after. Despite these harsh facts, though, there were glimmers of promise. Dr Deborah Black, whose pioneering work through the 1980s and 1990s had first identified CE and then CLE, was planning a visit to Chisasibi shortly after Bearskin had begun her search for more information, so Dr Robert Harris organized a meeting between Black and all the families that had been affected by the disease, with Bearskin acting as mediator. Out of that first encounter grew the Eeyou Awaash Foundation (with Bearskin as Chairman, a position she still holds), dedicated to learning more about CE and CLE, assisting families whose children suffered from these diseases, and helping find a way of treating them. 

 

Today, thanks to the work of Eeyou Awaash, the Cree Health Board, and researchers (primarily at Montreal’s Ste-Justine Hospital but with collaborators around the world), we know much more about the diseases. As a result, for the past four years Cree Public Health has been helping future parents by offering an educational and screening program that explains how screening tests work, tests those who decide they want to be screened – either individuals or couples – to inform them whether they risk having an infant with either of these conditions, and helps couples to explore different alternatives.

 

Identifying the genes responsible for these conditions has been one of the most important research breakthroughs, and led to the discovery that among the Cree between two and three individuals out of twenty carry the CLE gene, and about one out of twenty people carries the CE gene. “With this carrier rate, we can expect to see one affected baby for every 300 births, which is a lot,” says Hélène Denoncourt, the Chisasibi-based clinical nurse who runs the CLE/CE Educational and Genetic Carrier Screening Program. “So our first goal is to educate people.” To do so Denoncourt works closely with Eeyou Awaash to present educational sessions on the topic – on radio, in secondary school classrooms, in community meetings, and through other means. Information about CLE/CE now appears on the prenatal checklist of all health professionals – including doctors, nurses, and CHRs – to ensure that they tell people about the CLE and CE program. 

 

While there are no treatments for the diseases, genetic screening can identify whether someone carries CLE or CE genes. Because the gene is recessive, both parents must carry it in order for infants to risk having the condition; however, the carriers are not affected by the gene. “Carriers have a CLE or CE gene from one parent, but a good gene from the other, and the good gene overrides the bad, so the carriers are healthy. Because children get their genes from both of their parents, if just one member of a couple is a carrier, there is no risk of their offspring having the disease,” Denoncourt explains. “But if both parents are carriers, there is one in four chance of giving birth to affected child, and three in four chances of a healthy child.” So if people are interested in knowing if they are carriers, they receive genetic counseling from Denoncourt and then undergo the screening, in which a blood sample is sent for genetic analysis.

 

And if two carriers wish to have a child, even if they have previously lost a child to CE or CLE, they can now have tests on the unborn baby to learn if the infant is healthy. “We also explain all the options for people who do not want to face the choice of terminating a pregnancy, such as adoption, sperm donation, or in vitro conception, to help them reach a decision,” explains Denoncourt.

 

The educational and screening program is part of a new community attitude, according to Bearskin. “In the old days people never really questioned how to deal with these diseases, but information coming in now is welcomed. I think the community feels it is time to learn more and to take a role in our health decision-making,” she says. “Everything we do regarding CE and CLE and the educational and carrier program is to help young people become responsible parents.”

 

For information on the Educational and Carrier Screening Program for Cree Leukoencephalopathy and Cree Encephalitis, contact Hélène Denoncourt at 819-855-9001, extension 4412, or at hdenoncourt@ssss.gouv.qc.ca.