* - I have a neurodegenerative
brain disease called Huntington's. - When you've got this gene
in the family, it is
a dagger over your head. It's a threat to your longevity,
and you'll end up dying from it. - You just have to decide
every day that you are going
to just push through. - People are saying I was walking
a bit funny. - What is killing these brain cells? I'm confident in my lifetime,
we will have better treatments
for Huntington's patients. (PENSIVE ELECTRONIC MUSIC) Captions were made with the
support of NZ On Air. www.able.co.nz
Copyright Able 2021 (NERVOUS PIANO MUSIC) - The first time I really heard
about Huntington's and came to
understand it was talking to my GP. He asked me if I had
any health issues in the family, and I said, 'My granddad had this
thing. I don't know a lot about it.
I think it was called Huntington's.' And so that sort of... sparked... (LAUGHS) A relatively epic journey in my life. Because it's affected my granddad,
two of his kids have it. One is my dad. Learning more and more
about it was such an... eye-opening and difficult... thing to go through. My grandfather —
he was diagnosed, like,
not long after they discovered it. - The gene for Huntington's
was discovered in 1993. Huntington's is known as
a hereditary disease, so the way the
inheritance pattern works is that if your parent has one copy
of the gene, they have a 50% chance
of passing that gene on to you. I have the privilege of knowing
Micheal, and he's been a huge asset
to promoting Huntington's disease and creating awareness of it and the
impact it has on younger people that have Huntington's disease
in their families. - Hi, Micheal. How are you?
- I'm good, thanks. - What you represent, Micheal, is
someone who is brave enough to come forward and talk about how
Huntington's affects you personally. - People are private because... they are worried about how it's going
to affect how other people think
about them, potentially their employment,
etc., etc. Like, my parents were worried
that it would affect whether or not I would even be
a desirable partner, (LAUGHS) so I can understand why people
want to keep it private. (PENSIVE GUITAR MUSIC) So, this is me and my dad. Dad didn't find out
that he had Huntington's
until about five years ago, and he only really found out because
I had started to learn about it. My immediate family chose
to hope it had passed us and
we didn't need to worry about it, but also,
they didn't understand it. - It was kept hidden. If you've got defective
genetics in the family, which is going to cause...
your loved ones to die, you don't necessarily want to put
that out there for everyone to see. Its effect on the brain
is not just in one region, but it affects what we call
the basal ganglia in the centre, it affects the cortex — the folded
part on the outside of the brain. It affects how you think.
Your mental state alters. Your movement area also alters
and it can spread to affect
other parts of your brain. - Initially, Dad was having
some symptoms, but they
weren't obvious to us. They were quite subtle. Now, Dad's Huntington's
is starting to change who he is. - The life expectancy of someone who
has adult-onset Huntington's disease ranges from about... 10 to 20 years
from the point of showing symptoms. - I decided to do the test because
I came to the decision that knowing
that I had Huntington's could only... improve my life in that... what it would do was inform
all of the decisions that
I made from then on in. Actually taking the test is awful. You have to be OK'd to do it
by a psychologist, doctor,
and the genetic counsellor, and they talk to you about your
anxiety and they talk to you about whether or not you've had major
depression and whether or not you've
thought about killing yourself. It's a hard and horrible thing to do,
to go and face something like that. I was about 28 when I was diagnosed. One of the things that really
worries me is that, for example,
with my father, it affects his decision-making,
and working in any job, you need to be able to
execute decisions all the time. And so working from home
was a sort of obvious answer. I'm a graphic designer,
sometimes illustrator, and I'm mostly a dad taking care
of my nine-and-a-half-month-old son. (REFLECTIVE GUITAR MUSIC) It is 50/50 if Finn has Huntington's. - In Huntington's disease,
we've come a long way since
the discovery of the gene. The unique thing about Huntington's
is we have a molecular signature, which is that gene
that causes the disease, and for many, many years, scientists
have been trying to figure out
how to turn down that gene so that your good gene that
you inherited from the parent that
does not have Huntington's disease can take over and allow you
to live a normal life. The gene for Huntington's disease
causes the production of a protein, and this protein builds up
in the brains of these patients. And in that protein, there is a
little signature. It's like a motif, and that motif has a pattern on it. In a person with Huntington's
disease, the length of that motif
is longer than usual. My mission now — my research focus —
is to map out this protein and all the different
brain cell types of our
human brain to figure out what part of it we can just
chuck off or turn down or change and shut down the bit
that's causing the disease. * (GENTLE GUITAR MUSIC) - I'm Chris. My dad and my brother
have HD as well. People began noticing my physical
onset around 2013. I was 33 then. (SIGHS HEAVILY) Like a slow
train wreck, pretty much. - I had the privilege of meeting
Chris after he was tested
for Huntington's disease. Obviously, he's now displaying
significant movement differences. - My movements have come on
quite a bit recently,
which has been tiring sometimes. Yeah, it's quite a bit of effort
to move around a lot of the time. - People who have Huntington's
display interesting symptoms
when they're in their midlife — between the ages of, say,
35 and 45 — and those symptoms
can look extremely variable. They could be movement symptoms
affecting your ability to walk, your ability to carry out fine
motor tasks like drinking. With the onset of motor symptoms,
you have what is known as chorea. Chorea is Latin for dance-like.
That's where you have the writhing,
convoluted movements that are typically represented
in Huntington's disease. Huntington's can also affect
your personality and your cognition
or your ability to retain memories. It's variable
from patient to patient. - Thank you very much.
- Cool. - When we first met,
his symptoms were very minimal. He did have, like,
a drunk kind of staggering walk,
but that was about it. Obviously, it's not a good
long-term prognosis, and... the condition is very debilitating. - Christopher's decline has been— on my observation, has been... relatively quick, and I'm basing
this on a comparison with the other
family members who I observed. Gidday. I brought you
a basket of goodies.
- Awesome. Thanks. - In my family, my father-in-law
had Huntington's disease, my brother-in-law died of
Huntington's disease, my husband, Peter, died also of
Huntington's disease, and both my sons have been tested,
and they are both gene-positive. - Oh, nice of you
to come visit today, Mary. - My husband — the way it
affected him was more in terms of
behaviour and personality. He was a reasonably
happy-go-lucky sort of a guy, and he developed quite a nasty temper
and would just have explosive rages,
really, for nothing, for no reason. - Yeah, and he ended up in a home from 20 years or 10 years,
or something, which was pretty,
pretty intense because he wasn't an old man. - So, how are things going? - With Huntington's, you just— you
don't know what you're going to get.
- Mm. - It's like a lottery.
Chris, unfortunately, seems to
have a lot of movement issues. - Yeah, I've had to learn not to
compare Christopher to his dad or
to his uncle or even to his brother, because how the condition
is affecting him specifically
affects him and nobody else. - Some patients have mood disorders,
some patients have
movement disorders, and this is what,
from a scientific point of view,
researchers are trying to crack. What is the basis of variability
of symptoms in Huntington's, despite
it being a single gene disorder? - Are you aware of changes? - Don't know. It sort of takes, uh,
so long to process anything anyway. (CHUCKLES) So...
- You are aware of what's
happened to you? - Eventually, yeah.
- Yeah. - If new stuff pops up again,
it takes a while to kind of process, to kind of figure it out,
unless Nikki tells me. (LAUGHS) - 'Chris, mentally, is very capable,
and we openly discuss our future
and what that looks like — 'even the bad stuff like needing
in-home help or whether
we can't even cope with it 'and if we need to go to a facility. 'There's so many things that
can just change in an instant,
and we have to prepare for that.' That should be good. - The progression of the illness
can vary from patient to patient. Normally, you have around
15 to 20 years before the disease
eventually takes over life. (PENSIVE MUSIC FADES) - So we'll just do a few basic,
standard tests that we do
on Huntington's. So, the first thing is just keep your
head still and look at my finger. So, I'm just looking at
the movement of Chris' eyes
and Chris' smooth pursuits, which are the slow,
smooth movements of his eyes. OK. And they're pretty good,
actually. So, now, I'll look at some
of his quicker eye movements. - When he does some of the testing
stuff with the neurologist and, like, some of the things
he did with Matt, that is when he can kind of see
what he can't do. - With your right hand,
can you just hold it up and do
big and fast motions? - I'd say the first year,
nothing really changed. The last nine months,
probably, he has had changes... every two to three months. - Just do this. - So, we've gone from a change
in a year to a change every
six months to, yeah, every two to three months,
we have something new now. - Very good. Yeah. - He needs to be reminded
to have a shower, needs to be reminded
to brush his teeth.
I have to help him with shaving. So he can still dress himself
and still do... still do all the activities. He just
needs to be reminded to do them. - OK, Chris. Can you just walk down
to the end of the hallway and back? - That whole signal and that whole
memory thing of being able to go, 'Oh, these are the things
I should do' is gone. Yeah, I know. - So, I've seen
Chris' progression over time. What I love is his attitude. Him and
Nikki are amazing individuals. - We've known each other since
we were 13, 14, and we dated
in high school — end of high school and a bit
of the first year of uni —
left it there and did our own thing. So we hadn't seen each other
in 20 years, and then randomly bumped into each other
three years ago.
(BOTH CHUCKLE) Straight away, it was very
comfortable, very familiar. Definite chemistry, like,
straight away. - It wasn't really a decision —
just sort of happened. Unavoidable. (CHUCKLES) - Life is short, and I guess
we've chosen to embrace it, have fun, make as many memories
as we can, and just enjoy
the time that we've got. - Nikki makes me happy
because she's just a good person, and she just cares about everything,
which is pretty amazing. - And so we're like, 'OK.
Well, let's get married in June.' We haven't actually even
discussed the vows.
- (CHUCKLES) - You're going to have
to write something. - WHISPERS: What's a vow?
- (CHUCKLES)
- What are vows? - The wedding is very important
for a lot of people. Like, obviously, it's important for
us and it's exciting and stuff, but I think a lot of his family need
this as well. They need this memory. They need this fun time
to celebrate with him. * (REFLECTIVE GUITAR MUSIC) - Typically, the onset of
Huntington's is between
35 to 45 years of life. There are some people that don't
show Huntington's till their 60s. - I haven't had any symptoms yet
other than bad memory,
but my family has late onset. After I was diagnosed, there was,
yeah, quite a substantial change. I started just doing
meditation every day. Meditation is not going to save
your life, but it definitely, like,
helps you slow things down, and then changing my diet. Taking care of yourself should just
help all round. So, you know, I kind
of monitor how much I'm drinking. I try not to get, like, a hangover
and eating really well, you sort of know that you're doing
everything that you can do to
help yourself in the long run. - We're getting closer and closer
to tailor-made therapies
for treatments with Huntington's. Ideally, if I was a patient, I'd
just want to take something orally. But a lot of these treatments are
being given in quite dramatic ways. - The next hope, which is now
being tried, is looking at injecting a chemical into the brain itself and seeing if that will slow
and turn the gene down and stop the symptoms. There's been so much interest
in Huntington's disease. Because it's a single-gene disease,
that if we... If we can get a cure
for Huntington's, that would help us with
Parkinson's and Alzheimer's
that are multi-gene diseases. Why I'm doing brain research
is to give these people hope. - You've been good? (CHUCKLES)
- (LAUGHS) 'I was introduced to Pia
by a mutual friend.' - How has Finn been today?
- Finn's been great. He has been great.
He's been charming everyone. - 'She's really bright
and she's very passionate.' - I was instantly attracted to him,
and I liked her sense of humour.
We have a similar sense of humour. I thought her was funny and fun,
and I was totally besotted
when I met him. I already knew he had Huntington's
when I met him. 'Part of what really
attracted me to Mike was that he has
this amazing perspective on life.' He knows that this is going to
happen to him, so he has to make
the most of every day and prioritise what is really
important and not get caught up
in the silly stuff. Did you hear anything else from NTB? 'I found that so refreshing us.' - When we found out that
we were going to have Finn,
it was, like, quite shocking and very overwhelming,
but then very exciting. 'We had a lot of conversations around
whether or not to test Finn
while he was in vitro.' My mum was really good
when I spoke to her. She said,... 'Well, if you think about it,
if we had the choice
when we were having you, 'if we found out that you were
positive, we would have aborted you, 'so you wouldn't be here,
you wouldn't be living this life, 'you wouldn't be doing
all of these things that are,
you know, really great.' - When I found out I was pregnant,
we had to think about the fact that
Finn has a 50% chance of having it. - People have children.
That's a very natural thing to do, especially if you're in a
relationship, you've got a partner, and so if you do have a child
and that child has not been tested
for Huntington's disease, then normally what happens is that
child then makes the informed choice
when they reach the age of 18 years if they want to get tested or not —
exactly what Micheal did. He made an informed choice
when he was over the age of 18.
His son has the same legal rights. (REFLECTIVE ELECTRONIC MUSIC) - I am worried a little bit about
when we're older, when Finn is older, and when I am symptomatic
or even just more irrational,
because I know my dad. He could get stuck in a fight, and
that's sort of a dementia kind of
thing, which is part of Huntington's. I worry about when he's that age.
I don't know what I'm going
to be like, and I want to be somebody that he can
go to for advice when he's older. I think you want to be able to help
them for as long as you can do,
and I'm... worried that as I change,
I might not be that person for him. I worry about how it's going
to affect my family. Nobody wants to see their family
member deteriorate, and I don't
want to cause them that heartache. It just happens
because of what's happening. - I would like to think in 10 years'
time, we can actually tell someone
who gets a test for the gene, and if they're gene-positive, say,
'Well, we can give you something. 'We can treat you so that you won't
get this disease, or slow it down,
or even stop it before it starts.' - We've bought this house,
so that's the next exciting step. We'll be settling in there
and making it a home. - Right. Oh, look — some feijoas. 'One of the things about being
diagnosed with Huntington's is that 'it gives you an appreciation for
those small things in your life.' You just have to keep going.
There's not, like, an easy answer.
You just have to... basically decide every day that you
are going to just push through. - (LAUGHS) - By being exposed to this result
and information that
you don't want to hear, you will also learn a great deal
about yourself. Look at those.
- Yeah. 'It means that you can look at things
for what they are.' - And you're in charge
of the garden.
- Don't know about the roses. - (LAUGHS) 'I know that it's something that
I will face in the future, 'but I know that I'll be there
for him to face that.' That will be Finn's room. He's brought me down to Earth,
I think. He's made me see what is
important and what's not important. - It's not that I believe that
there's hope. I know there is hope because I see what people like
Micheal and Finn are going through,
and I'm, like, frustrated, you know? From a scientist's point of view,
we're, like, so close to
the edge of a breakthrough. We're almost there. (WARM GUITAR MUSIC) - So, today, Chris and I
get married. Everything has just
fallen into place. I'm pretty excited to
get out there, and it should be
a pretty fantastic day. He grounds me. He's kind of helped me
to appreciate life. We just
don't know what time we've got. We've decided to just enjoy life. - Have to look at it that way.
I mean, you know? Otherwise, you're waiting
for the bus to hit. (CHUCKLES) (LAUGHS) Wedding time. (LIVELY BAGPIPE MUSIC PLAYS) You always have to look for the joy.
Mm. Always. (BAGPIPE PLAYS
LEONARD COHEN'S 'HALLELUJAH') - MAN: It took them 20 years
to finally get here,
but now that we're here, I know that we're all
very excited for them. - I've already asked for so
much from you, and you've
given without question. I want to be as strong
as I can be for you. You're an incredible woman,
and I'm a very lucky man.
I love and choose you, Nikki. - You've shown me how to relax
and enjoy the little things. I choose to love you and support you
and be your biggest advocate, to smile, laugh, and cry with you
in good times and in bad. I choose you forever. I love you. (WARM GUITAR MUSIC) (CHEERING, APPLAUSE) (CHEERING, APPLAUSE) (INQUISITIVE PERCUSSIVE MUSIC) Captions by Cameron Grigg. Captions were made with the
support of NZ On Air. www.able.co.nz
Copyright Able 2021
