Host: These are the many faces
of Huntington's Disease - a
rare, inherited, neurological
disorder, that affects movement,
cognition, and behavior.
So,
what exactly is Huntington's
Disease?
And what is on the
horizon?
These are just a few of
the questions we'll ask this
morning.
I'm Ereka Vetrini.
Join us for this very special
program, as Access Health goes
Behind The Mystery, with an
in-depth look at Huntington's
Disease, otherwise referred
to as HD.
(Music)
Dr. Sung speaking: It's
certainly the
thing that gets me up every day,
the thing I have the most
passion for is taking care of
these patients.
Mike Smith
speaking: Mentally and
physically, I would just like to
hold on to where I'm at now.
I
don't want to slip any
further.
Dr. Hayden speaking:
This is a disease that has been
called the most disastrous
disease known to man.
Dr. Hayden
speaking: The cycle of despair
goes from one generation to the
next, and there's no way
really to stop it.
Myra Smith
speaking: There was just little
signs there that I knew
something wasn't right.
Had no
idea what it could be.
But I
knew something wasn't right.
Dr. Hayden speaking: And I'm
very hopeful, that in the near
future that it is likely that we
will find some way to modify the
course of the illness.
Host: Dr.
Michael Hayden is a world
renowned expert on
Huntington's Disease and
genetic research.
Much of his
career has been spent seeking to
understand HD, its origins and
its patients.
Dr. Hayden: I'm
trained as a geneticist and an
internist specializing in
neurology and I've been
committed my whole life to
making some impact in changing
the course of illness for
patients with severe
neurological diseases.
The good
news today is that there are
ways for us to think about ways
to understand the disease, to
develop new medications to stop
- potentially stop the course of
the illness.
We know more about
the pathways now than we've ever
known, and it is good news
because pharmaceutical companies
are now invested in Huntington
Disease.
Host: Dr. Victor Sung
currently serves as the director
of the Huntington's Disease
Center of Excellence at the
University of Alabama, in
Birmingham.
Today, we'll hear
from both doctors as they share
with us their expertise,
insights into patients care, and
deep understanding of this
incurable, complex disease, and
the families affected by it.
Dr.
Sung explains some of the basics
for us.
Dr. Sung: The simplest
definition of Huntington's
Disease is that it's a purely
genetic neurodegenerative
disorder.
To unpack those words,
purely genetic means if you
inherit the gene you will get
the disease, if you don't have
the gene you won't get the
disease.
So, it's caused by a
gene mutation and then
degenerative disorder in that it
causes breakdown or change in
the brain over time and the
symptoms that you get come from
the brain being damaged slowly
over time.
It's a slowly
progressing disease.
It's not
something that is rapidly fatal
like certain infections or
certain cancers or something
like that.
The average time from
diagnoses to death from the
disease is in the 20-30 year
range.
Dr. Hayden: Huntington
captures it all because it has
mental illness, it has movement
disorder, it has depression; and
there's been until now, very
little hope that you can change
the illness but I always
believed as a scientist, as a
physician and an optimist that
there's much we can do.
Host: It
is considered to be the 2nd most
common of the genetic disorders
and is passed down, sometimes
through many generations of a
family.
Dr. Hayden: It's
ruthless in its disregard for
gender, so it can be passed from
a woman or a man to a child
who's a girl or a boy, and each
child of an affected parent has
a 1 in 2 chance of having this
illness - 50 percent.
Dr. Sung:
Typical symptoms are, what we
call the HD triads, so they're
the motor, the cognitive, and
the behavioral symptoms.
Early
symptoms of Huntington's Disease
most commonly would be some mild
chorea, or some mild
depression/anxiety, some mild
forgetfulness.
We should
approach all three of those key
areas as there's something that
we can do for them and certainly
we should address all of them.
Dr. Hayden: Most people who are
affected with Huntington's have
onset in their 40's, but in fact
the age span is extremely
variable.
You can have onset as
children but 10 to 15% of people
have onset less than the age of
20, and now we're seeing more
and more people as we living
longer, we seeing more and more
people having onset in their
70's and 80's and 90's and I've
just seen some patients who have
onset over 100.
Dr. Sung: For my
patients that are presenting
between 30 and 45, often they're
fairly mild, many of those
patients are still working and
they have some combination of
some motor symptoms like chorea,
some behavioral symptoms like
depression/anxiety, or some
anger outbursts, something like
that, and milder cognitive
symptoms, a little bit of
forgetfulness.
And our really
our focus since many of those
patients are still working, is
trying to keep them working for
as long as they can.
Dr. Hayden:
We know the age of onset is
determined by the severity of
the mutation.
If you have a mild
mutation you'll have much later
onset, if you have a mutation in
the middle range you have onset
in your 40's, if you have a
severe mutation you have onset
less than the age of 20.
Dr.
Sung: So staging for HD we
actually define by how much
functional limitation there is,
if any.
So in the mildest stage
of Huntington's Disease those
patients will still be working,
still able to handle money,
still able to do chores,
certainly still able to dress
themselves, feed themselves, and
do all the basic care needs.
In
moderate HD, then you're
starting to see some impairments
functionally, and usually
that's gonna be impairment
at work, often leading to not
able to work, or disabled from
working, some impairments in
financial accounting, those
kinds of things, maybe some
impairment in chores, things
like that, but still usually
preserved basic functions like
bathing, dressing.
From a
treatment standpoint we would
all love to say that, you know,
we improve quality of life and
treat their symptoms so well
that they never reach the late
stages of HD.
The reality is
that many patients still will
reach late stage HD, and
that's going to exceed the
caregiver's ability to take
care of them on their own at
home.
So late stage HD is often
the time when patients will be
transitioned to a long term care
facility.
Host: Movement
symptoms in HD, as they worsen,
can cause significant functional
impact on the lives of the
patients and their families.
We'll take a closer look at
that, when we return.
Register
at HDmotorsymptoms.com to be
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educational materials and
resources.
Welcome back to this special
edition of Access Health.
Today
we're getting a closer look at
the hereditary and progressive
brain disorder, Huntington's
Disease.
Before the break, we
were discussing symptoms of this
devastating illness and how the
disease effects the mind,
emotions and body.
One symptom
in particular has always been a
signature movement disorder in
HD.
Here's more from our
experts.
Dr. Sung: One of the
most common symptoms of
Huntington's disease is chorea.
In fact, some people refer to
the disease, instead of
Huntington's Disease, they may
say Huntington's chorea.
Chorea
the term comes from an old Latin
word that means
dance, so, some people describe
it as kind of a dance-like
movement, but it's really kind
of an involuntary jerky movement
that can involve any part of the
body from the head to the toes.
Dr. Hayden: What's interesting
when patients sleep the chorea
goes completely away, so
something happens during sleep
that suppresses all the abnormal
movements.
It interferes with
function.
Patients can't do up
their buttons, can't do up their
shirt, can't do up their
shoelace, they walk, they fall,
they hurt themselves, it's quite
incapacitating.
Dr. Sung:
Chorea, while it's the most
common of the symptoms overall,
and certainly the most common of
all the motor symptoms, there
are many other motor symptoms as
well.
Other motor symptoms of
Huntington's Disease besides the
chorea would include impairment
of eye movements, impairment of
speech, impairment of
swallowing, impairment of gate
and balance.
Host: Today's
story comes from rural Alabama,
Mike and Myra Smith have been
married for 44 years.
Mike's
diagnoses came in his early
60's, just a few years ago,
he didn't know it ran in the
family.
Myra Smith: My name is
Myra Smith.
We live
in Hartselle, Alabama.
We have
two sons, Chad, he is 39, he'll
be 40 this year and Ben is 35.
Mike Smith: I'm Mike Smith and
I'm 65 years old, working on 66.
The Jim Dandy Pet Food Company
is being built in town, so I've
been there for almost 40
years.
I was their environmental
and safety officer manager.
So,
I handled all the safety and the
environmental programs on the
site, and we, you know, had a
good tight ship.
Myra: The first
thing I noticed, I guess,
related now to Huntington's, was
movement in his feet.
We would
be sitting together on the couch
and he'd have his feet up
against me and his toes would be
constantly moving and I was like
"stop it!
Please stop that!"
But
he couldn't stop it and I
mentioned him going to the
doctor but he didn't think it
was a problem so time went on.
And, then I noticed, when he
would sit like over in the
recliner, constantly moving.
He
was beginning to move a lot more
and more all over, not just his
feet.
Dr. Sung: The most
outwardly visible symptom is the
chorea, so many mild patients
they just have the chorea and
they really don't have much of
the other cognitive or
behavioral symptoms.
So, that is
one way that patients present -
they have this chorea.
It may or
may not be that bothersome to
them but somebody has noticed
it, somebody in the family has
noticed it or their GP has
noticed it or something like
that and they'll initiate the
referral.
Mike: About 2 years
ago, the movement disorder
started going.
I was
unconsciously just, it
wasn't hurting me, I was
fidgeting, I was moving and like
I said, it doesn't hurt you but
everyone else was watching you,
just worrying, you know.
Finally
I said - well no I didn't - my
wife reminded me that we
probably need to look into it
and that's when I started
looking.
Myra: I also noticed
him walking through the house.
He'd begin to walk differently
than he used to, his gate was
different, he was stiffer.
You
know, there was just little
signs there that I knew
something wasn't right.
Dr.
Sung:
Irregular, uncontrolled
movements, if you have a little
jerk like that in the leg or in
the foot, it can disrupt walking
fairly simply.
You know, I
think, if you think about a baby
that's trying to learn how to
walk, how much it really takes
for them to walk consistently
without
falling.
You really need very
smooth,
very consistent movement of
the legs, that is
not interrupted and very
coordinated in order to walk
well without falling.
So, it
really doesn't take much of a
disruption to disturb walking,
and which can lead to stumbling,
or near falling, or falling.
Mike: What it lead all to me
looking further was, we were
traveling to a football game
that Ben was in, coaching, and I
remember, you know, and I was
just real agitated.
You know,
Myra really didn't say - it
didn't take much to set me off,
but I was really verbally very
abusive to her.
I mean, and
really, and she didn't deserve
that.
I used to be better than
this.
You know, I didn't grow
up that way.
Myra: Going and
doing as much as we were, and
working full time, you know,
that was stressful.
It was a
stressful time, but still some
of his actions were not
characteristic of him.
Some of
his outbursts was not
characteristic, and he did see
his MD for some of the emotional
and he put him on an
antidepressant.
Well, that
helped for a while but then it
began to build up again, and
that was about the time that he
was diagnosed with the
Huntington's and we began to put
the whole story together.
Mike: The job I had was pretty
task oriented and I couldn't do
a lot of the tasks involved
anymore.
At the end I was, you
know, just doing email
expressing myself.
An email took
me 3 hours to come up with what
I thought, couldn't write out,
type out and make sense and
that's, you know, that's
discouraging, that's
disheartening.
Just me not being
able to a job, my job like I
should, you know that, that's
not me, so I didn't feel like,
feel like I needed to turn it
over to somebody else.
Myra: As
his job was getting harder for
him to do, I think the emotions
were getting worse, you know,
because of the frustration.
His
doctor at that time said,
Maybe it's time to see a
neurologist, I think I see a
little more than I did the last
time so we talked about it
and decided that that's what
we needed to do, not just stop
here.
See if there's anything
else out there, get another
opinion.
Mike: The doctor in
Decatur said I think it's
Huntington's and so a genetic
test would have to be performed
to confirm it or not.
Dr. Sung:
We confirm the diagnoses of
Huntington's Disease with a
gene test which is as simple as
one tube of blood drawn out of
your arm now.
Myra: I probably
did not do as much internet
research as I would have, had I
had more time.
You know, I did
try to find out what I could and
be proactive in, you know,
questions to ask the doctor when
we went.
But there's not a lot
out there for Huntington's, and
what we were reading, there's
not much you can do.
Host: While
there's no cure for Huntington's
Disease, efforts
to improve the lives of its
patients suffering from this
unforgiving illness, as well
efforts to find a cure, never
stop.
Dr. Sung: I really don't
look at the diagnosis of
Huntington's Disease as a
death sentence.
(Voice Over) Register at
HDmotorsymptoms.com to be
among the first to receive
educational materials and
resources.
Host: Welcome back to this
special edition of
Access Health.
People battling
the incurable, rare, and genetic
illness Huntington's Disease
and their family's having to
cope with so many challenges on
so many fronts.
But, that
doesn't deter them or the
medical community from staying
on path with hope for what
tomorrow holds.
And, in the
absence of a cure, the goals are
clear, to help patients maintain
a sense of independence while
helping them to maintain and
improve their quality of life.
Dr. Sung: I've known Mike and
Myra, I've been their treating
physician for about 3 or 4 years
now.
I think Mike is the classic
for a late onset, very mild dose
of the HD gene mutation.
He has
a mild mutation so he's had
onset much later in life.
Myra:
You know, it was a relief to
know that there was a diagnosis
for what he was dealing with
emotionally and physically.
I
think that just knowing that,
helped.
Dr. Sung: So, a big part
of my clinical endeavors are
clinically treating Huntington's
disease patients and then
participating in clinical trials
for Huntington's disease.
Myra:
Going to Dr. Sung he started
talking to us about the clinical
trial and we were very
interested in that.
He passed
protocol for it and we started
on that, nobody could actually
say - yes he has the drug,
they didn't know because it
was a blind study.
I could see a
difference in his movements and
he just wasn't moving as much.
Mike: Started through the
treatment it did help me so I
was able to continue my job
handled over.
I think it's for
the new meds, I wouldn't have
been able to do that.
Dr. Sung:
There are a lot of things we can
do to treat the symptoms and
stay on top of it, and I think
when patients come in early and
are motivated and aggressive,
I'll be as aggressive as the
patient and the family wants to
be in.
Staying on top of
treatments, both pharmacologic
and non-pharmacologic to try to
preserve quality of life as long
as we can.
Myra: Right now
that's the biggest part of, I
think of my caregiving, is just
watching him.
Watching out for
him and making sure that he has
what he needs during the day to
eat and making sure when I get
home that he has eaten.
And,
asking him from time to time,
have you had your medicine,
which he's been very good about.
But, you know, when is that
gonna change?
Well I want to be
on top of that.
I want to know
the first time he forgets to
take his medicine.
I want to
know the first time he falls, he
trips for no reason, you know,
and fortunately we haven't had
that but I'm ever watchful.
Mike: If I'm 65 years old,
still this healthy, to be
outgoing and be able to do the
things I'm doing.
I'm blessed.
(Voice Over) Register at
HDmotorsymptoms.com to be among
the first to receive educational
materials and resources.
We want to thank everyone who
participated in this story.
So
incredibly revealing and
inspirational.
There is, indeed,
so much hope for what the future
holds.
And, for more information
on
Huntington's Disease, head to
HDSA.org.
And of course you can
always log onto our website at
AccessHealth.tv.
James is speaking with closed
captioning.
(Music)
