A young girl with Familial
Dysautonomia rises up out of her wheelchair and spends the day
shopping with her mother in Manhattan. A ten year old boy with
FD spends six months in the hospital, his condition worsening,
fighting to stay alive, and then suddenly gets well and walks
out. Instead of failing to thrive, a baby girl with FD hits all
of her developmental milestones on time; crawling, babbling, and
growing. She shows no symptoms of her disease - she feels pain
and cries tears. A thirty year old woman with FD can now feel
the grass with her bare feet, has stopped taking the medicines
she has taken her entire life, and is starting to date.
In dozens of FD families
around the world, the progression of this degenerative
neurological disease has been slowed and much of the suffering
alleviated. No - it's not a new miracle drug, not faith healing.
It's the result of an approach to disease called genetic
nutritioneering, in which genetic expression is modified by
nutrients.
The symptoms of FD are
caused by insufficient amounts of a protein in neurons, the
cells of the nervous system, called IKAP. A mutation in the FD
gene results in a combination of normal and abnormal forms of
the protein being produced. Sometimes the mutation is ignored by
the cell's splicing machinery, and sometimes it is not. Genetic
nutritioneering can be used to influence the cell to ignore the
mutation a greater percentage of the time. It can also be used
to increase production of the protein.
At the Laboratory for
Familial Dysautonomia Research at Fordham University in Bronx,
New York, analyses of hundreds of available nutritional
compounds has so far turned up two nutritional supplements that
influence the expression of the FD gene. In the summer of 2003,
Professor Berish Rubin, who heads the lab, and Dr. Sylvia
Anderson, who directs the lab, announced the first of the two
compounds. The tocotrienol form of vitamin E, which is extracted
from rice bran, causes the FD gene to express larger amounts of
IKAP. In the fall of 2003, Rubin and Anderson announced that a
substance found in green tea known as EGCG
(Epigallo-catechin-3-gallate) causes cells to ignore the FD
mutation by lowering the amount of a protein called A2/B1 in the
cell.
Some children and adults
with FD are able to do things they've never done before. A
twelve year old girl began smacking every golf ball out of
sight, and wondered aloud if she was dreaming. A
cognitively-challenged six year old boy who used to walk around
in a daze, bumping into walls, can now focus on what he is
doing, and went from being unable to feel scalding water to
refusing to get into a bath that he described as slightly too
warm. A fifteen year old boy with an upper arm circumference the
size of a boy half his age doubled its girth in three months.
This evidence suggests that they are now producing significantly
more normal IKAP in their neurons as a result of the increased
expression of IKAP due to tocotrienols, and the increased
proportion of normal to abnormal IKAP due to EGCG.
With funding from FD Hope,
the lab continues its work. It is our hope that this work will
conclusively increase IKAP levels and that someday soon, FD
children and adults will have IKAP levels sufficiently high
enough so that the disease no longer controls their lives.
Together, we will silence the FD mutation.