Test Results

My grandson definitely has Charcot-Marie-Tooth
Disease.  After a careful examination, the
neurologist said his particular case was worse,
more progressive than other children.  He was
discussing his ability to run and how that would
be affected first.  I explained that he had NEVER
been able to run.  He then attempted to get my
grandson to stand on one foot which he was
unable to do.  That is when he told us that his
disease had progressed much farther than
was usual.  He also said, in response to his
father's statement regarding how much
exercise his son got over the weekends, that
he needed to be careful to exercise because
it would be easy to cause bone fractures in
a child such as he.

His father after leaving stated he was not
giving up--that he felt it could be reversed
with enough exercise.  This was said to me
only.  I replied, "Do you ever listen?  This is
about (son's name), not you.  He is fragile.
Do you remember what you said when he was
two years old?  You told me that he was put
through all the genetic  testing and there was
nothing wrong with him and I replied back
that just because those tests were negative
didn't mean there was nothing wrong with
him and I knew (clinically speaking, as a
nurse, normal, he (grandson) wasn't
normal.

The first time he was taken to a developmental
pediatrician, He was diagnosed as Autistic,
Pervasive or Global Developmental
Delays and Hypotonia.  Later ADD and
then HDAD was added.  His initial
pediatrician was on the correct track
when she ordered genetic testing
especially for Muscular Dystrophy.
The Heman Genome project had not
been completed at that time;  all the
test results came back negative.

Last year my grandson did well in
school; he was behind but only by
6 months.  This year, in the second
grade, he has went backwards, only
able to read 3 letter words, and simple
ones at that.  The neurologist knew no
reason for this, and an appointment was
made for genetic counseling. That will
take place Jan. 28.  The next custody
hearing is on the 23rd..  This driving
him 46 miles one way to school is
insane and my daughter has been
trying to get a hearing since this summer.
Each month it has been postponed.
A special needs child's needs have
been overlooked. Ignored.  Plus,
his father does not try to understand
what is wrong with his son.  To quote
him, "Why bother finding out what is
wrong with him when there is nothing
that can be done?"  He just didn't want to know
that something was wrong--and it was traced
back to him, and to his mother.  His Dad
played football, very unlikely that his side
of the family contributed the one gene
necessary for this disease.  His mother's
sister had severe scoliosis the same as
grandson's father.

In my family tree, there was one case of
scoliosis in one aunt.  None of the children
had it or any type of leg weakness.  Two
members had psoriasis, and three members
had Raynaud' syndrome.  One uncle died
of heart disease.  Most family members
as they aged had hypertension.  One aunt
had history of strokes, and her youngest
daughter also had stokes.  That same daughter
also had severe life-threatening allergies--and
I alsohave a history of severe allergies.

My daughter inherited skin allergies from me
and flat feet from her father.  No problems
with heart or blood pressure.

I have a neice who has Durcum's disease,
which causes lipomas throughout her body.
I know I have 2 lipomas, mine are not
painful and not very large.  Hers are painful
and large.

Other than history of stroke, diabetes and
severe scoliosis, and now, the Charcot-Marie-
Tooth disease, Type 1A, that is only history
known from father's side of family.  They
tend to be closed off, not communicative
regarding family history.  Neither my
grandson or his father have reflexes in the
feet or legs.

All for now

Kate Thorn