Fighting Genetic Disorders
Medical professionals from St. Justine’s Hospital in Montreal met with members of the Cree Board of Health and Social Services of James Bay (CBHSSJB) and Annie Bearskin of the Eeyou Awaash foundation to assess where they were at in fighting Cree encephalitis (CE) and Cree leukoencephalopathy (CLE) on November 30.
This meeting was to look at how far the geneticists at St. Justine’s had come with their research and for the CBHSSJB members to present what they have been doing in terms of creating public awareness and encouraging voluntary screenings.
According to Hélène Denoncourt, a nurse for the CBHSSJB who handles these particular files, CE and CLE are two diseases that affect brain development in young children.
“CE is an inflammation of the brain that is caused by a calcification; this means that there is a gene that sends calcium to the brain,” said Denoncourt.
Babies who are born with CE are small at birth, have smaller heads and will often have a hard time breast feeding. These children have a severe developmental delay both mentally and physically because of the calcium in their brains
They are severely handicapped and are in wheelchairs because they are not able to walk or talk, are often blind, won’t speak and will die in early childhood.
Babies born with CLE, on the other hand, present themselves as completely normal until such time that they develop a fever from a cold or flu. At this point it is as if their bodies react as though they cannot handle the fever. It will turn the infant’s white brain matter into liquid and the child will begin to regress.
“If they were able to sit, they will not sit anymore. They present abnormal posturing, eye deviation and seizures. They usually die within a few weeks to a few months from the initial fever. There is nothing that can be offered to the patients,” said Denoncourt.
The meeting brought together some of the original doctors who discovered these two hereditary diseases with those who continue to educate and screen the Cree public for them. It also included some of the families who have suffered losses as a result of the diseases.
Prior to the discovery of these two disorders, Cree babies had been dying mysteriously in the north. At the time of its discovery, CE and CLE became the leading causes of infant mortality in Eeyou Istchee.
In 1999, relatives of those who had been affected by CE and CLE formed a committee to raise money to continue research into these disorders and to help the families affected. Together they formed the Eeyou Awaash Foundation, which became incorporated in 2000.
A lot has changed since then, according to Denoncourt. Not only have the researchers at St. Justine’s been able to develop a genetic screening test, but through this test they have formed a statistical database on the genetic carriers.
At present, carriers for CLE stand at two-to-three out of every 20 Crees that have been screened for it. The rate is one out of every 20 for CE.
In order to get Crees screened and to find the genetic carriers, the foundation teamed up with the CBHSSJB and Denoncourt, who developed an educational and carrier-screening program. This particular campaign is targeted at high school students in grades 9-11 so that the youth can choose to get themselves screened before they start planning their own families.
Bearskin, chairperson of the Eeyou Awash Foundation, who lost her granddaughter to CLE in 1998, has fought for awareness and screening for the two disorders since she learned about them. She is grateful for both the screening tests and the campaigns to make use of them.
“My daughter has three children now. She has had the tests and the results were good. We are very lucky. Her youngest one is just a year now. My son has just come home now with his new baby, they took the test when they could,” said Bearskin.
Though Bearskin and Denoncout work closely together to further the awareness of the disorders, they recognize that there is still no cure. They are hoping that through research that one might be developed.
The Eeyou Awash Foundation continually raises funding for research and to help out families whose children are being hospitalized in the south.
For more info about CE or CLE, to get tested or to make a donation to the foundation, go to: www.eeyouawaash.com