to a victim of FD.
Children and adults with
FD experience decreased or poor pain perception, which
means they could break an arm and not even know it. They may
also suffer from erratic or unstable blood pressure that
causes them to feel dizzy and sometimes faint. They often have
trouble swallowing so they are fed through tubes directly into
their stomachs. Most suffer from scoliosis and some are blind.
Any number of problems can arise from this debilitating disease.
FD is a way of life.
Different from yours or mine, or any other "normal" person
around us. FD is born the moment the child is born, and from
that moment it affects every aspect of his or her life.
FD is not a malady, a
virus or a bacteria. It is not contagious and cannot be acquired
after birth.
Many children are born
with gene disorders and struggle all their lives to learn how to
overcome their disability. Most of them succeed. But those with
FD have tougher battles because it affects every organ in the
body.
An estimated 600
children have been diagnosed with FD since this disorder was
recognized in 1949. Twenty years ago many FD victims died
before reaching the age of 10. Statistics are improving,
however. Due to the better understanding of the disorder, half
may reach the age of 25. Still not a long life in terms
of the average person.
It is estimated that
one in 27 Jews of Eastern European (Ashkenazi) origin are
carriers of the FD gene. But without proper screening, more FD
cases are bound to appear.
Only two doctors in
the world treat FD: one in New York and one in Israel,
Jerusalem. Since it is such a rare disease, hospitals are not
experts at either recognizing or treating FD. Much effort
has gone into spreading the knowledge FD and its treatment to as
many doctors as possible. Spearheading this activity are the
parents of FD children.
A slight virus in a
healthy child can cause a "crisis state" in an FD child. Even a
strong emotional episode can trigger an FD crisis. When a child
goes into a typical crisis, the child severely retches, his or
her blood pressure soars to 200/150 and the child's heart rate
skyrockets to 180. Each time the parent wonders if this time
his or her child will die.
Today, when a child goes
into "crisis" parents step in as their child's advocate in
the emergency room. They try to help the local doctors
understand the affects of FD. A good situation is one where a
doctor has the common sense to listen to the parents; an
unproductive one is when the doctor does not listen. The latter
can make matters worse for the child, the results, devastating.
Common medication can be
lethal for FD children, so their parents check and
double-check everything before administrating it to their
children.
Administration of a
common vaccine to an FD patient can trigger a crisis.
Since FD is rare, and
many of the affected families live far from each other and FD
medical centers, these families feel alone and helpless
when a crisis occurs. Hope and support is shared through e-mails
and phone calls with other FD-affected families. Faced with
difficult decisions, like an operation, FD families have only
each other for advice and experience.
FD Hope supports the
work of Dr. Berish Rubin, a researcher at Fordham
University in the Bronx, New York. Dr. Rubin identified the FD
gene which will allow testing to determine FD carriers and
hopefully prevent future cases of FD. Through his research, Dr.
Rubin fights a daily battle to uncover new possibilities for
an FD cure. Researchers are on the brink of discovering
meaningful treatments that will halt the progression of the
disease.
Until then, parents and
children do their best to cope with the life-threatening
challenges of FD.
