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September 5, 2008
Rare genetic disease hits family
More is being learned about Canavan, which affects Ashkenazi Jews disproportionately.
EVA COHEN
Yulia and Gili Ben Moshe's son, Lavi, was born with Canavan. Lavi is now 10 weeks old and he is deaf, blind and suffers from restlessness.
Canavan disease is relatively rare, but it affects children of eastern and central European Jewish (Ashkenazi) descent disproportionately. About 90 per cent of Jews living in North America are of Ashkenazi descent and it is estimated that one in 40 Ashkenazi Jews are a carrier of the Canavan gene.
The disease usually becomes apparent when an infant is three to nine months old and there is currently no cure. Since Lavi is 10 weeks old, the disease has been caught much earlier than usual. Symptoms in other cases have varied, but generally include rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone, such as stiffness or floppiness. These symptoms make it impossible for children with Canavan disease to crawl, walk, sit or talk. Over time, the situation worsens and the children suffer seizures, become paralyzed, mentally challenged or blind and have trouble swallowing. Although hearing generally remains a functioning sense, deafness, as found in Lavi, also has been recorded. Most children with Canavan do not live past the age of 10.
What causes the disease? According to the Canavan Foundation, Canavan is caused by the lack of an essential enzyme, which can lead to the abnormal accumulation of certain substances in the cells. This causes cellular damage, which results in the degeneration of the various functions listed above.
Canavan disease is classified as one of the leukodystrophies: a group of inherited neurological disorders that affect the growth of the myelin sheath, the "white matter" of the brain that serves as an insulator to protect nerves. The disease is caused by a deficiency of the enzyme aspartoacylase, which leads to the buildup of N-acetylaspartic acid (NAA) in the brain. The accumulated NAA causes a chemical imbalance that destroys the myelin, making the "white matter" spongy and resulting in Canavan disease's debilitating symptoms.
The Canavan Research Foundation is currently involved with two forms of therapy: gene and stem cell. It is to the foundation that the Ben Moshe family is travelling repeatedly from Israel, in order to do as much as they can for Lavi.
Since Canavan was caught much earlier in Lavi, everyone has strong hope in his chances. The Ben Moshe family has a website called www.givinglavilife.com and in it, they have been writing about the medical situation and their personal experiences. After their first week in the United States, Yulia and Gili Ben Moshe wrote that there is a good chance that, due to the press so far in Israel, which has given their case urgency and a means to raise funds, Lavi has a good chance of regaining his sight and hearing. When Gili Ben Moshe spoke with the Jewish Independent a couple of weeks ago, he was very optimistic and said the doctors have never seen such a positive response to the treatment.
However, the major problem is in continuing the treatment. The Ben Moshe family must travel to the United States because there is not a facility in Israel that can help their son. Within Israel, they were able to raise 300,000 NIS but the entire budget for the treatment is estimated at $1.5 million US and travel expenses at $250,000 US. The family considers themselves very lucky that they have been able to stay at the Ronald McDonald House in Camden, in southern New Jersey. The home can hold up to 20 families at one time and offers a stocked kitchen with food cooked by volunteers. It also gives the Ben Moshes an opportunity to meet and speak with families going through similar situations. This is all provided for $15/night, but it is only a small help on the wallet.
The Ben Moshes began raising money by sending out e-mails to family and friends inside of Israel. They also have family in the Diaspora, including in Vancouver. Donations can be made online and the Ben Moshe family has listed on the website all those who have donated.
The Ben Moshes also have sent out e-mails to friends and family asking them to try and raise awareness in their communities by approaching local Jewish organizations.
For the Ben Moshes, the beginning of this ordeal came "as a very big shock." This is their third child and they had no idea that they were at risk for the disease. There was genetic testing done, but there was a mistake.
"We never dreamt that we might have a problem, that we might have something like this happen," said Gili Ben Moshe. "When we found out that our son has this disease, it felt like the sky was falling over us."
However, both husband and wife are taking the opportunity to see the good in life.
"We have actually realized that we are privileged to fight for this child's life," said Ben Moshe. "It's something that for us is a very noble cause and we really intend to do everything we can in order to help him."
As well, the Ben Moshes feel it is very important to find a cure for Canavan, not only for themselves, but for other families, too, so that they won't have to go through the same experience.
"Very shockingly, we realized that it's not only our private interest to solve this disease, because it's actually a Jewish disease mostly," said Ben Moshe. "Therefore, we started a fund and we are doing everything we can in order to support research to solve this disease."
This sentiment is echoed by Lavi's grandfather in Vancouver, Avi Ben Moshe. He and his wife, Shuli, who is treasurer for the Richmond Jewish Day School, moved to Vancouver four and a half years ago from Israel. Avi Ben Moshe said the appearance of Canavan in Lavi was a huge surprise for the entire family, but that it goes beyond the immediate family.
"This is a Jewish disease, and it is very important for the Jewish people to find a cure," he said. "The ratio is one in 40 for carriers, but this could get worse over time. A cure for this one disease may also open the door for finding out about many other diseases. It is very important for the human purpose to be a part of the fight for the cure to this disease; you don't know who will be affected next. B'ezrat Hashem, with G-d's help, the cure will be found soon and will eliminate the suffering of parents and children in the future."
The Ben Moshe family will be returning to the Canavan Research Foundation and Dr. Paola Leone regularly for check-ups and an operation in about eight months. They are open to experimental treatments and the foundation noted that the most recent advances in gene therapy "have been especially exciting." The first clinical trial was partially funded and approved by the U.S. Food and Drug Administration and the National Institutes of Health. In it, a new and more potent viral vector is being used to transport the genes into the brains of Canavan children, and the trial is ongoing at the Robert Wood Johnson Medical Centre. Of the children monitored, all of the parents are reporting clinical improvements, which are supported by medical scans. A very promising example is Lindsay Karlin, now 11 years old, and the first child treated in the first trial in 1996. She has shown no deterioration since receiving the latest gene vector.
With these developments, it is hoped the cure is very near and that baby Lavi Ben Moshe will live a relatively normal life.
Eva Cohen is a freelance writer.
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