HSAN Newsletter-1

1st
International
HSAN
Seminar
–regarded
as
a
success
by
all!
On
August
7,
2009,
NYU
Langone
Medical
Center
and
the
Dysautonomia
Center
hosted
the
first
International
HSAN
Seminar.
The
seminar’s
mission
was
to
provide
informative
sessions,
establish
support
services
for
patients
and
families
and
spearhead
efforts
to
get
research
moving
ahead
for
the
group
of
disorders
known
as
hereditary
sensory
and
autonomic
neuropathies
or
HSAN’s.
The
HSANs
comprise
a
very
rare
group
of
disorders
that
are
widely
dispersed
geographically
for
which,
heretofore,
there
was
no
recognized
treatment
center.
Our
experience
with
one
of
the
HSANs
(type
3
or
FD)
makes
it
logical
for
us
to
offer
our
diagnostic,
treatment,
and
research
expertise
for
these
other
related
orphan
diseases.
Participants
included
families,
physicians,
researchers,
therapists
and
social
worker.
There
was
global
representation
as
families
came
from
Europe
(Amsterdam)
as
well
as
various
parts
of
the
United
States.
In
fact
there
were
8
states
represented.
All
participants
agreed
that
the
morning
lecture
sessions
were
informative
and
addressed
some
of
the
key
issues
common
to
all
the
HSAN’s
and
that
there
was
plenty
of
time
for
Q
&
A.
Over
lunch
doctors
and
families
were
able
to
network
and
share
experiences.
The
afternoon
ended
with
a
comprehensive
and
enlightening
session
regarding
enhancing
services
and
increasing
resources.
Group
Picture:
Top
Row
(left
to
right):
George
Stingley,
Luis
Salazar,
Daisy
Stingley,
Cindy
Zahneis,
Sam
Saah,
Vivien
Saah,
Ann
Liristis,
Sophia
Liristis,
Maria
Liristis,
Horacio
Kaufmann,
Felicia
Axelrod,
Lucy
Norcliffe‐Kaufmann,
Rohit
Raman,
Rahul
Raman,
Noel
Salazar,
Pat
Gelfand,
Philip
Giarraffa,
Kurt
Gelfand,
Tali
Eisenmann.
Seated
(left
to
right):
Juan
Salazar,
Susuan
Salazar,
Roberto
Salazar,
Melissa
Chaikin‐Kahn,
Anu
Raman,
JV
Raman.
(Missing
are
Dr.
David
Feldman
and
Mr.
David
Brenner)
Comments
from
Families:
Great conference, It was so nice to meet other children and parents going through the same things. It gives me hope for the future
for Roberto. I am excited to see how HSAN's are being embraced and the hope for the future for all of these children/adults.
Susan Salazar, Indiana
I want to thank you and all of the professionals that participated in the seminar on Friday. I think it is wonderful that all of you took
the time and effort to help spearhead efforts to get research, etc. moving ahead for the HSANs. And your promise of future help is a
great step to get things going.
Cindy Zahneis, Ohio
Summary
of
the
Presentations
 General
Information
about
HSAN
and
Goals
for
the
Future………………
Felicia
B.
Axelrod,
MD
Dr.
Felicia
Axelrod,
Director
of
the
Dysautonomia
Center
at
NYU,
welcomed
the
group
and
gave
a
brief
overview
of
the
HSAN
disorders
and
outlined
the
goals
of
the
Conference.
She
provided
the
present
nomenclature
and
stressed
how
all
the
HSAN
types
(with
the
exception
of
type
1)
appeared
to
be
disorders
of
development
so
that
the
genetic
error
occurred
early
(prior
to
birth).
Because
each
HSAN
type
was
caused
by
a
different
genetic
mutation,
the
process
of
development
was
probably
disturbed
at
a
different
point
in
time
resulting
in
slightly
different
problems.
However,
all
had
in
common
decreased
pain
perception
and
some
degree
of
autonomic
dysfunction.
In
addition
some
had
central
processing
that
affected
learning
and
behavior.
Dr.
Axelrod
stressed
that
it
was
important
for
all
of
the
HSAN
types
to
come
together
and
organize
and
consolidate.
The
difficulties
in
accomplishing
this
goal
were
presented—the
HSAN
are
considered
rare
disorders,
the
patient
population
is
widely
dispersed
throughout
the
world
and
throughout
the
United
States,
they
are
poorly
classified
with
many
of
them
not
even
having
a
clear
type
assigned,
and
there
are
no
easy
diagnostic
tests.
As
a
result
there
is
limited
expertise
in
treating
HSAN
and
there
has
not
been
focused
research
to
find
treatments
or
cure.
Thus
it
was
proposed
that
all
of
the
HSAN
types
utilize
the
resources
of
the
NYU
Dysautonomia
Center
and
partner
with
the
Dysautonomia
Foundation.
The
advantages
would
be
that
the
HSAN
disorders
could
utilize
the
resources
of
two
organizations
that
have
a
well‐established
record
of
success
in
combining
clinical
care
with
research
and
as
a
result
have
dramatically
improved
the
survival
of
one
HSAN—type
3
which
is
also
known
as
familial
dysautonomia
or
FD.
For
this
HSAN
survival
and
quality
have
already
been
dramatically
improved
and
we
are
on
the
threshold
of
launching
genetic
therapy.
This
is
what
also
should
be
accomplished
for
the
other
HSAN
types
by
utilization
of
the
NYU
Dysautonomia
Center
staff,
equipment,
and
expertise.
Centralization
of
care
for
the
HSAN
has
already
started
as
the
patients
and
families
are
learning
that
the
Center
is
amenable
to
embracing
all
the
HSANs.
At
present
about
80%
of
the
Center’s
patient
population
consists
of
HSAN
type
3
patients
(FD)
and
20
%
(148
patients)
are
the
“other
HSAN
types”.
However
it
is
anticipated
that
the
number
of
patients
with
other
HSAN
types
will
increase
and
these
proportions
will
start
to
shift.
At
the
present
time
more
than
50%
of
the
“other
HSAN’s”
are
comprised
of
type
4
and
what
we
term
type
2
(which
does
not
have
a
specific
gene
mutation
identified
as
yet).
However
a
large
group
of
HSAN
patients
continue
to
be
unclassified
and
are
grouped
here
as
“Unknown”.
At
the
NYU
Dysautonomia
Center
a
database
has
been
started
that
will
provide
disease
specific
information
on
symptoms,
natural
history
of
disease
and
prognosis.
Specific
treatment
needs
are
being
identified
and
we
are
putting
together
a
team
of
experts
to
deal
with
these
issues.
The
Center
will
then
be
able
to
serve
as
a
resource
for
patients,
families
and
other
physicians.
However
what
we
will
need
to
continue
success
in
this
area
will
be
for
awareness
of
the
Center
to
grow
so
that
participation
will
increase
and
we
will
need
to
develop
financial
resources
to
fund
research
and
that
will
have
to
come
from
private
sources
as
well
as
from
Foundations
and
the
government
(NIH).
Page
2
 Orthopedic
Issues
of
the
HSAN
Patients………………
David
Feldman,
MD
Dr.
David
Feldman,
Chief
of
Pediatric
Orthopedic
Surgery,
because
of
his
extensive
experience
with
multiple
HSAN
patients
was
able
to
provide
an
overview
of
orthopedic
conditions
that
are
commonly
associated
with
the
HSANs
and
focused
on
the
physical
expectations,
some
treatment
options
and
special
considerations
as
well
as
tips
on
how
to
avoid
complications.
He
explained
that
there
are
mainly
5
types
of
orthopedic
manifestations—Charcot
arthropathy,
fractures,
joint
dislocations,
spinal
dislocation
(i.e.
spondlolisthesis)
and
osteomyelitis.
Some
of
these
issues
can
occur
as
a
result
of
unrecognized
trauma
and
some
as
a
result
of
the
self‐injury
due
to
decreased
pain
perception.
Regarding
physical
expectations,
Dr.
Feldman
indicated
that
it
is
unnatural
for
children
to
be
confined
to
wheelchairs
and
that
when
possible
they
should
be
allowed
to
ambulate
and
even
participate
in
non‐contact
and
low‐impact
sports
such
as
swimming
and
bicycling.
However
appropriate
precautions
should
be
taken.
He
indicated
that
braces
were
often
needed
to
stabilize
the
ankle
or
the
foot
and
might
be
indicated
after
fracture
or
surgery.
The
brace
should
be
perfectly
form
fitting
and
should
not
be
used
as
an
alternative
to
surgery
to
reduce
a
fracture
or
attain
alignment.
However
brace
treatment
often
had
to
be
individualized
in
terms
of
what
type
and
extent
of
wear.
Osteomylelitis
is
a
potential
hazard
for
the
HSAN
patient
and
finger
tips
and
toes
were
the
most
difficult
to
treat.
Antibiotics
are
always
indicated
and
often
surgical
debridement
is
necessary.
Most
importantly
there
should
be
a
high
index
of
suspicion
and
treatment
should
be
early!
Dr.
Feldman
stressed
that
there
were
particular
things
to
be
considered
as
a
means
of
avoiding
complications.
He
advocated
early
intervention
with
an
experienced
occupational
therapist
to
assist
in
increasing
awareness
regarding
the
importance
of
body
positioning,
as
well
as
avoiding
sitting
on
the
floor
as
this
often
traumatizes
or
malpositions
the
joints
(such
as
knees
and
hips).
He
also
recommends
treating
problems
early
and
completely,
efficient
use
of
good
bracing
and
not
mobilizing
fractures
too
early.
In
conclusion,
Dr.
Feldman
stated
that
HSANs
should
be
treated
with
education
and
therapy
in
order
to
avoid
undue
force
on
joints
and
early
surgical
intervention
if
dislocation
or
Charcot
joint
is
suspected.
In
these
cased
solid
fixation
and
conservative
post
operative
management
is
essential.
 Taking
on
the
Challenge
of
Research…
Lucy
Norcliffe‐Kaufmann,
PhD
and
Horacio
Kaufmann,
MD
Dr.
Horacio
Kaufmann
is
the
Director
of
Research
at
the
NYU
Dysautonomia
Center
and
Dr.
Lucy
Norcliffe‐
Kaufmann
has
already
started
a
significant
research
project
focusing
on
the
neurohormone
perturbations
in
this
population,
which
may
lead
to
increasing
our
understanding
of
blood
pressure
control
and
behavior
in
this
population
and
eventually
an
innovative
means
of
treatment.
Dr.
Norcliffe‐Kaufmann
led
off
in
this
presentation
with
a
review
of
the
HSANs
and
the
specific
mutations
in
HSAN
type
4
and
type
2
and
how
they
cause
sensory
dysfunction.
She
then
focused
on
helping
the
participants
understand
sensory
dysfunction
and
the
role
of
pain
in
protection,
as
well
as
in
modulating
drives
and
instincts
and
eventually
in
decision‐making
and
behavior.
She
stressed
the
importance
of
the
role
sensation
has
in
conveying
information
through
neuronal
networks
from
the
body
to
the
brain
and
how
this
information
is
used
to
reach
awareness,
create
emotional
mood
and
make
decisions
that
eventually
affect
behavior.
Understanding
the
normal
process
then
helped
the
audience
appreciate
what
happens
when
this
system
does
not
function,
i.e.
when
sensation
in
impaired.
Not
only
does
the
individual
lose
protective
ability
and
suffer
repeated
trauma
and
thermal
injuries,
but
emotional
development,
self‐awareness,
learning
and
social
perception
can
also
be
affected.
Dr.
Norcliffe‐Kaufmann
then
explained
the
extensive
role
of
the
autonomic
nervous
system
and
how
it
controls
multiple
functions
including
blood
pressure,
heart
rate,
breathing,
temperature,
sweat
production,
gastrointestinal
motility,
bladder
and
bowel
control,
tear
production
and
even
sexual
function.
In
some
of
the
HSANs
sweating
function
is
increased
and
in
others
it
is
decreased.
Normally
sweating
is
increased
when
the
brain
appreciates
an
increase
in
core
temperature
or
when
there
is
emotional
stress.
It
then
sends
a
signal
via
the
sympathetic
system
to
the
sweat
glands
to
increase
production.
As
a
result
sweat
production
would
increase
and
heat
would
dissipate
through
the
process
of
evaporation
from
the
skin.
Page
3
However,
in
HSAN
type
4,
because
the
sympathetic
neurons
are
not
present,
this
system
does
not
function,
and
sweat
production
in
impaired
and
the
patient
cannot
cool
properly.
This
puts
the
HSAN
type
4
patient
at
risk
for
high
fevers
and
even
febrile
convulsions.
Dr.
Norcliffe‐Kaufmann
also
explained
that
the
autonomic
nervous
system
is
believed
to
have
an
important
role
in
blood
pressure
control.
Investigators
at
the
Dysautonomia
Center
believe
this
is
an
area
that
needs
further
investigation
in
HSAN
type
4
patients
as
it
could
affect
posture
and
cerebral
perfusion.
Dr.
Horacio
Kaufmann
stressed
that
the
research
goals
of
the
Center
included
comprehensive
studies
of
autonomic
and
sensory
function
in
all
the
HSAN
types.
By
combining
treatment
and
clinical
care
with
research,
the
Center
staff
would
strive
to
perform
translational
research
and
to
execute
therapeutic
trials
of
new
agents.
The
work
has
started
and
there
is
already
funding
from
the
Dysautonomia
Foundation
Inc
and
the
National
Institutes
for
Health
(NIH)
for
some
pilot
trials
but
that
more
support
will
eventually
be
required
to
enhance
and
expand
research
efforts.
 Advances
Through
Partnership……………………………….
Mr.
David
Brenner
Mr.
David
Brenner,
Executive
Director
of
the
Dysautonomia
Foundation
Inc
stated
that
improving
the
care
for
patients
with
rare
diseases
requires
a
special
set
of
partnerships
and
the
more
rare
the
disease,
the
more
valuable
are
the
partnerships.
He
related
the
experience,
and
success,
of
the
Foundation
in
changing
the
outcome
of
one
HSAN—type
3
(aka
Riley
Day
syndrome,
familial
dysautonomia
or
FD)
and
indicated
that
the
Dysautonomia
Foundation
could
also
achieve
advances
for
the
other
HSAN
disorders.
The
Foundations’s
goals
are
to
provide
support
through
fundraising
and
lobbying,
As
a
result,
since
it’s
formation
in
1951,
the
Foundation
established
a
treatment
center
in
1970,
funded
two
endowed
professorships,
sponsored
various
research
proposals
that
led
to
discovery
of
the
FD
gene,
creation
of
a
mouse
model
and
development
of
various
therapies
with
which
has
led
to
improved
outcomes
for
the
HSAN
type
3
(FD)
patient
population.
The
key
ingredients
for
a
successful
partnership
are
organization,
involvement
and
support.
The
Dysautonomia
Foundation
would
be
an
ideal
partner
and
is
willing
to
help
centralize
and
organize
the
larger
HSAN
community.
 Sensational
Sensory
Integration:
A
means
to
modifying
behavior
&
decreasing
risk
of
injury….Melissa
Chaikin‐Kahn,
OTR/L
Melissa
Chaikin‐Kahn,
an
occupational
therapist
who
specializes
in
sensory
integration,
is
the
Director
is
Sensory
Kids
in
Greenwich
CT.
She
has
the
opportunity
to
evaluate
and
treat
HSAN
type
4
patients
and
has
identified
some
of
their
needs
and
has
suggested
remediation
methods.
She
presented
an
overview
of
the
concepts
involved
in
sensory
integration.
Sensory
integration
is
the
ability
to
take
in
information
from
the
surrounding
environment,
make
sense
of
it,
organize
it,
and
use
this
information
to
interact
with
the
environment
in
an
appropriate
and
successful
manner.
As
she
explained,
if
there
is
a
“glitch”
in
our
ability
to
appropriately
integrate
the
seven
senses,
simple
acts
become
overwhelming
and
confusing.
Ms.
Chaikin‐Kahn
explained
that
there
were
three
broad
categories
of
sensory
processing
disorders—modulation,
discrimination
and
sensory
motor
based
with
the
latter
being
the
most
basic
type
of
dysfunction.
In
addition
to
the
traditional
5
senses
(tactile,
visual,
auditory,
taste
and
smell)
there
is
also
the
vestibular
sense
(located
in
the
inner
ear
and
controls
balance
and
posture
and
gives
spatial
orientation)
and
the
proprioceptive
sense
(located
in
muscles
and
joint
receptors
and
provides
body
awareness
and
orients
body
part
relationships).
Using
the
concept
of
a
“pyramid
of
learning”,
she
explained
how
proper
Page
4
utilization
of
the
7
senses
was
necessary
in
order
to
achieve
higher
level
skills.
Thus
sensory
motor
based
disorders
have
dysfunction
in
the
sensory
systems
that
can
cause
in
derangement
of
body
awareness
and
impair
postural
adjustment
resulting
in
a
child
bumping
into
objects
and
throwing
themselves.
It
can
also
impede
attention
center
functions,
which
leads
to
behavior
problems
and
ultimately
academic
learning,
which
is
at
the
top
of
this
pyramid.
Children
with
sensory
motor
based
disorders
have
trouble
learning
new
skills
and
require
lots
of
repetition.
They
have
difficulty
transferring
or
Based
on
her
testing
of
HSAN
type
4
patients,
Ms.
Chaikin‐Kahn
reported
that
their
scores
on
generalizing,
poor
play
skills
and
poor
standardized
tests
(Short
Sensory
Profile)
were
2
to
3
SD
below
in
all
areas
of
sensory
processing.
The
coordination
or
they
are
considered
major
problems
were
in
tests
of
motor
and
postural
skills.
There
were
also
impairments
in
auditory
clumsy.
processing
and
auditory
discrimination.
As
a
result
she
noted
seeking
behaviors,
frequent
falls
with
problems
in
safety
awareness,
hyperactivity
and
inattention,
over‐responsiveness
to
tactile
and
auditory
stimuli,
regulation
concerns
and
self‐injurious
behaviors.
Ms.
Chaikin‐Kahn
indicated
that
sensory
integration
could
benefit
this
population.
It
was
not
just
a
behavioral
modification
approach,
it
actually
causes
a
change
in
the
nervous
system.
She
recommends
a
“bottom
up
approach”
with
a
concentration
on
the
sensory
system
and
incorporating
the
therapies
with
auditory
programs.
This
therapy
can
be
provided
in
an
intense
program
over
a
short
period
,
which
may
be
necessary
since
so
many
patients
reside
outside
of
the
greater
New
York
area.
She
can
then
work
with
local
therapists
and
school
programs
in
a
consultatory
role.
 Identifying
Social
Service
needs
and
Facilitating
Parental
Networks...Philip
Giarraffa
MSW,
MPH
Philip
Giarraffa,
a
social
worker
with
the
Dysautonomia
Center,
provided
an
overview
of
how
social
service
supports
aim
to
improve
quality
of
life
for
patients
affected
with
HSAN
disorders.
The
challenge
facing
families
affected
Types
of
Social
Service
Supports
by
this
rare
group
of
disorders
is
how
to
• Educational
advocacy
address
the
lack
of
 Barrier‐free
learning
environment
knowledge
that
is
often
 Climate‐controlled
classrooms
 Utilization
of
health
paraprofessionals
seen
from
health
care
 Transportation
providers,
insurance
• Durable
medical
equipment
companies,
social
service
 Braces
agencies,
and
educators.
 Mobility
equipment
This
barrier
continues
to
 Blood
pressure
machines
impact
quality
of
life
for
• Insurance
advocacy
HSAN’s
because
many
 Coverage
for
physician
visits
(particularly
if
clients
are
needed
services
and
coming
to
NYC
for
evaluation
and
treatment).
supports
are
withheld
or
 Coverage
for
medical
procedures
(x‐rays,
surgical)
denied.
The
rarity
of
 Therapeutic
services
(occupational,
physical
therapy)
HSAN’s
makes
it
imperative
that
we
strive
Page
5
to
promote
education
of
these
disorders
to
all
service
providers.
Mr.
Giarraffa
anticipates
that
future
research
initiatives
will
lead
to
new
treatments
resulting
in
the
need
for
additional
social
service
supports.
As
a
result,
the
Dysautonomia
Center
must
take
a
proactive
approach
in
promoting
education
of
HSAN
disorders
as
well
as
the
social
service
resources
that
aim
to
improve
the
quality
of
life
for
this
patient
population.
Presently,
Mr.
Giarraffa
continues
to
advocate
and
assist
families
affected
with
HSAN’s
both
nationally
and
internationally.
Regardless
of
geographic
location,
families
are
encouraged
to
have
their
local
providers
and
educators
contact
him
if
questions
should
arise
concerning
the
necessity
of
social
service
supports.
Until
knowledge
of
HSAN’s
increase,
Mr.
Giarraffa
recommends
targeting
symptoms
(osteomyelitis,
poor
circulation,
gastrointestinal
problems,
etc)
that
are
recognizable
amongst
insurance
companies,
health
care
and
social
service
providers.
This
often
serves
as
a
mechanism
for
obtaining
needed
social
services.
Networking
serves
as
social
service
resource
in
itself
especially
when
dealing
with
a
group
of
disorders
that
are
rare.
When
dealing
with
relatively
unknown
disorders,
families
feel
that
their
children
are
“falling
through
the
cracks”
and
this
can
be
extremely
frustrating.
However,
the
formation
of
a
parent/patient‐oriented
network
will
lend
support
to
such
frustration.
Networks
can
be
used
as
an
informative
foundation
especially
when
families
have
questions
in
regards
to
medical
procedures,
orthopedic
surgery,
insurance
coverage,
supportive
therapies,
and
additional
social
service
supports.
Networking
can
be
comforting
especially
when
you
have
contact
with
other
families
that
can
lend
support
to
you
during
physically
and
emotionally
challenging
times.
Talking
with
families
that
may
have
experienced
similar
situations
can
be
invaluable.
Please
join
the
Dysautonomia
Center
in
facilitating
a
network
that
aims
to
provide
such
support!
Goals
for
the
Future
1. Increase
awareness
of
HSAN’s
2. Encourage
centralization
of
care
and
resources
3. Encourage
registration
and
comprehensive
evaluations
at
the
Center
for
all
patients
with
HSAN’s.
The NYU Dysautonomia Center
NYU Langone Medical Center
530 First Avenue, Suite 9Q
New York, NY 10016
Phone: 212-263-7225
Fax: 212-263-7041
[email protected]
4. Start
to
fundraise
and
support
the
Dysautonomia
Foundation
to
foster
clinical
care,
treatment
and
research
projects.
Dysautonomia Foundation, Inc.
315 West 39th Street, Suite 701
New York, NY 10018
Phone: 212-279-1066
Fax: 212-279-2066
www.famdys.org
5. Establish
links
with
independent
websites
to
the
Dysautonomia
Foundation
and
the
Dysautonomia
Center.
6. The
Dysautonomia
Center
will
develop
research
protocols
and
apply
for
NIH
funding
Page
6