MUSIC Hi everybody.
I'm Julie Moran.
And I'm Olga Villaverde.
Welcome to The Balancing Act.
And we wanna dedicate this show to the millions of people around
the globe battling rare diseases and their families and
caregivers.
According to the patient advocacy group, Global
Genes, it currently takes an average of over 7 years to
accurately diagnose a rare disease.
And most patients are misdiagnosed multiple times in
the process is hard to believe.
Today we introduce you to some extraordinary people, who
welcomed us into their world with open arms.
And it all starts right here.
=EXTENDED MUSIC= It's a rare disease impacting
the lives of several thousand Americans.
And while the overall U.S. population effected by it
is small.
For the families dealing with this condition the
implications are large indeed.
Part 2 of our continuing series on hereditary ATTR continues.
Christopher Cox reports from Boston.
It's rare, debilitating, and it's a fatal disease that
runs in families with no known cure.
It's name: Hereditary ATTR Amyloidosis.
We're here in Boston on the banks of the
historic Charles River to meet with 2 very special women.
Women impacted by this disease.
To hear their stories and their
hopes, and how it's impacting them, their lives, and their
families.
The day after I turned 44, I got my feet out of bed and
I noticed, as I put my feet on the floor, that my feet began to
tingle, as if they had fallen asleep, and I thought, oh, this
will just go away.
And throughout the day it did not,
and I tried to dismiss it.
I did a lot of walking and I had bad
shoes, and 3 days later the tingling started in my hands.
And I remember calling Christina and we had been talking and I
said, you know, I think this may have started.
And said you'd better get to the doctor now.
Dawn and Christina knew what those symptoms meant.
Bloodlines for this disease run deep in the
family.
Very close third cousins represent the fifth generation.
Christina's 2 siblings, are also positive for the gene
mutation.
You're both familiar with the family genealogy chart.
Has that graphic been helpful for you both in understanding
and communicating the disease?
For me, it's it's something I can also take to the doctors as
proof that this isn't something to be dismissed.
This is something that occurs every
generation, and the 50/50 chance that this recessive gene plays
itself out, just in every generation.
And for me personally, it seemed like every
10 years someone in our family is effected, and you know, dies.
And it wasn't until Christina's side of the family, where it was
your dad and your aunt, that there was more hope they caught
it so early.
That there was a chance of life and it wasn't a
death sentence.
So for me, the chart, it's kinda hard to see so
many generations effected and so many families and, but yet a
little bit hopeful to see that within these generations people
are starting to live.
There are new treatment options.
Things are happening for us.
ATTR is, of course, a familial disease
that afflicts through the generations.
Patients and their family members become familiar
with the symptoms.
And younger patients that experience the
disease are familiar with those symptoms leading to an earlier
approach to doctors and an earlier diagnosis.
Dawn, you tested positive for the disease
nearly a decade before symptoms began showing up.
Tell us about that.
The genetic confirmation shows that there might be the
luck of the draw.
It's a 50/50 chance of developing the
disease.
However, our family history, especially speaking
back to that chart, shows that it's more than likely that you
will develop the disease.
And I got tested, watching my mother
really go down a very dark path, and we struggled for answers.
And I wanted to have answers ahead of time.
So getting that genetically diagnosed early
meant I had time to prepare.
For Dawn, it's the little things in
life that matter most.
Prior to her symptoms, the stay at home
mom loved biking.
Something she can no longer do.
Trying to find joy in maybe smaller things, not
making it so big.
Originally my active lifestyle came from a
therapeutic angle when I was a caregiver for my mom.
So, now just making sure I get walks
with my children.
Walking them to school, going with them on a
bike ride, getting on a hike, and just getting outdoors.
Right now, you know, climbing 3
flights of stairs is not an issue.
I hope it doesn't ever become an issue.
So, I can, but, you know, getting on my bike
with the kids, there's good days and bad days.
They'll ask me mommy can we go on a bike ride.
Not today mommy's hands or mommy's feet really hurt.
Can we do something else?
And, you know, my son asks me mom can you
do martial arts with me, maybe when your hands are better?
I said sure.
Dawn you describe Christina as a woman of quiet
strength, yet a little bit of sass in there too.
Can you tell us about that a little bit?
I feel like you're the sister I
never had, you know.
And being able to share this journey with
her and it not be so gloomy.
We can make, you know, dark jokes
about, you know, what we want at our funeral, and laugh.
So it elevates a very sad situation
and I feel like I have someone to be with me, who understands
it at a deeper level.
Absolutely.
Health discussions also play a big role at
Christina's home.
So I do keep my children very informed as to
what's going on.
We include them in everything cause they're old
enough to understand.
I think it's important that they
understand their future, how it's going to pan out.
My daughter, Anna, who is 17, has
symptoms that could be amyloid.
We do not know for certain.
She is gene positive.
She has had neuropathy for 3 years that has
spread from her feet to her hands, and now she has some
autonomic neuropathy as well.
With her being gene tested, it's very hard to discern what is
amyloid because the biomarkers, it's very difficult to
determine.
At such a young age.
And at such a young age.
It's out of the norm and it makes it
just very difficult.
-MUSIC- Their journeys often bring them
here to Boston where they meet with doctors to discuss next
steps and possibilities.
For now, the only treatment option
for early stage disease is liver transplantation.
While treatment is currently limited to
supportive care, there's always tomorrow.
The message we'd like to convey to families with ATTR
is that there's hope.
We, and others, in the academic
institutions and biotech industry are developing
important new medicines to help families.
And we think, we hope, that these treatments will be
available soon, changing the lives of patients afflicted with
this terrible disease.
For inspiration, Dawn often looks to
a letter who mother wrote to her upon graduating from high
school.
My dearest Dawn.
You've just passed an important
milestone in your life, graduation from
high school.
I've tried my best to give you all the tools you
might need to get through all the impasses life throws at you.
I know even if I had another lifetime I've probably not
covered giving all the knowledge it's going to take to get
through.
You know one thing, I'll always be there for you if
you need me.
I hope I've taught you to stand straight and tall,
face your fears with courage and strength.
The morning star in the sky is the limit for you my
sweet, and I will always be "the wind beneath your wings" to help
you soar.
Always and lovingly, Momma.
MUSIC I hope that this diagnosis
diagnosis doesn't mean the end of the road for someone.
That it's a journey that you get to
sidestep it and move on in your life, rather than it being a
tailspin.
And it shouldn't be the destruction of a family.
And now there are more options and
that create hope.
Absolutely.
I don't think I could say it any
better than that.
It's hope for the future that we can move
forward.
That technology and research will continue on
medical treatments so that we can eventually have a normal
life and eradicate this disease and stop the generations from
dying off.
Christina and Dawn also have hope for the what the
future may hold.
And in the meantime, they carry on.
Thanks so much to our guests for
sharing this information on Hereditary ATTR.
Again, there are a number of ways a patient
can get diagnosed.
For more information on a free screening
program, go to TTRscreen.com.
EXTENDED MUSIC Like many young boys his age, 7
year old Jackson Dunn Kraus has many interests.
And he loves hanging out with his twin
sister.
His parents say he is a funny kid and likes to laugh.
This, despite his medical condition, Jackson has a rare,
serious, and progressive genetic disorder that effects mostly
boys.
Jackson has Hunter Syndrome.
Our guests this morning, Dr. Barbara Burton, a
Professor of Pediatrics at Northwestern University, and Dr.
David Molter, a Professor of Otolaryngology, Washington
University School of Medicine at St. Louis.
And we're gonna meet Jackson and his mother a little
bit later in the show.
Good morning to both of you.
Good morning.
Thank you so much for being here.
Dr. Burton, let me start with you and let's talk
about Hunter Syndrome.
What exactly is it?
Hunter Syndrome, also referred to as
Mucopolysaccharidosis or MPS Type II, is a rare genetic
disorder that effects males almost exclusively.
It is estimated to occur in about 1 in
every 162,000 births.
It's a serious and progressive
condition for which we currently have no cure.
And let's talk about, doctor, the physical
symptoms that maybe a parent notices.
When do they become noticeable?
What happens?
Typically, a baby with Hunter Syndrome appears healthy at
birth.
OK.
But then at some point in the early years of life
symptoms begin to develop in multiple organ systems.
There can be recurrent respiratory and
ear infections.
We see changes in the facial features, called
coarsening resulting in thick lips, broad nose, large tongue.
We also see an enlarged abdomen from enlargement of the liver
and spleen.
There can be chronic or recurrent diarrhea, hernias
are quite common.
And we see progressive symptoms in the
skeleton and in the joints.
Particularly progressive stiffness of the joints.
Dr. Molter, I wanna bring you into
the conversation and I do want our viewers to know that you are
a otolaryngologist, which is also know as an ENT specialist,
ear, nose, throat.
Do you see any common threads between,
let's say, a baby that's born healthy and than, obviously
than, symptoms occur, common threads between both?
Certainly, well as an ear, nose and throat
specialist, we see things ear, nose, throat, and dental.
And so often, this begins with a course
of recurring ear infections which may lead to placement of
tubes.
Sinus infections, upper respiratory infections, and
changes in the facial features.
We may see coarsening of the tongue, enlargements of the
tonsils or adenoids, and may see some changes in the teeth, which
are often described as being peg-like.
These symptoms by themselves are certainly not a
red flag, and are common experiences with childhood.
OK.
It's when they're associated with other findings, such as a
hernia or the coarsening of the facial features that should
begin to raise a red flag for Hunters.
Dr. Burton?
Exactly, I think when you see multiple
medical issues in the same child, that's when you wanna see
if there's a common thread or diagnosis that would explain all
of those.
And so a pediatrician or an ENT doctor might get
suspicious and then a specialist like myself, a geneticist, can
recognize the combination, order the appropriate diagnostic tests
and make a diagnosis.
And Dr. Molter, for parents out there
who may be experiencing this.
They don't know what's going on.
They're going from doctor to doctor.
It can be extremely frustrating.
It is their child.
What would you say in terms of maybe educating them and helping
them so they can find the answers they need?
Well, it certainly is challenging.
It's when you find that you're
reaching challenges outside of the norm, that referral to a
geneticist would be appropriate.
Alright Dr. Molter I know you have to get going.
Dr. Burton, you're gonna stick around
because - thank you so much Dr. Molter for being here this
morning.
Cause when we come back we're going to meet Jackson and
his mother.
A very special boy.
And we're gonna share their story with you, so stay with us.
MUSIC Welcome back everyone.
We've been discussing a serious,
progressive genetic disorder called Hunter Syndrome.
And joining us now are Carrie Dunn
and her 7 year old son, Jackson Dunn Kraus, who has this
disorder.
Good morning to both of you.
Good morning.
Thank you for having us.
Oh, thanks for being here.
Doctor, before I speak to this lovely young man,
let's talk about Hunter Syndrome.
Now, we talked about two forms, mild and severe.
Which one does Jackson have?
Jackson has a mild, or perhaps intermediate form of the
disorder where there's little or no involvement of the brain.
Many patients with Hunter Syndrome have the severe form
where the brain is more extensively involved and we see
more severe developmental delay or loss of developmental skills.
Now Jackson, I hear your 7, when are you gonna be 8 years old?
Big boy.
On April.
What day in April?
April 28th?
What a special day.
And what grade are you in?
Second grade.
And somebody told me this morning that you love school?
What's your favorite subject?
Science and recess.
Science and recess, perfect.
You study for a little while and then we go
play.
I love that answer.
Definitely.
Carrie, let's talk about Jackson.
Tell me what happened.
Obviously, from what I've been learning here, he was
born and everything seemed healthy at the beginning?
That's a great question.
When Jackson was first coming to us, we
realized that we were having twins.
So I was followed by a high risk pregnancy physician.
When he was born, we spent some time right away in the nick cube
because of a collapsed lung.
So he was having some distress,
pulmonary issues.
And he spent some time there and then they
handed us our healthy baby and said go enjoy the twins.
And Sidney was growing a little bit
faster and gaining her milestones a little bit earlier.
Jackson was showing some signs early on that distressed us a
little bit in that he had a large distended belly.
His skin was extremely taut.
He was crawling, what we'd like to call
a commando crawl, for quite awhile where his sister starting
walking.
And still you didn't know.
We didn't know but we did seek the advice of numerous
physicians and we started therapies early on.
Jackson started with occupational
therapy, developmental therapy, speech therapy, sensory, feeding
therapy.
A little bit of everything.
And this was all before he was 3.
And when was he finally diagnosed?
Right after his third birthday.
We had gotten a recommendation to see a
geneticist and as we went into the geneticist appointment she
discovered a hernia right away.
So the red flag was he has a hernia, the large distended
belly.
His face was a little bit larger than most boys his age.
The geneticist recommended that we see a metabolism specialist
right away.
And we were able to go into that appointment and the
doctor looked at us and said I know what your son has.
He has something called Hunter
Syndrome, otherwise known as MPS II.
And your reaction at that moment.
I was happy that I had a diagnosis.
I was thinking that.
But I was devastated to know that my son would suffer for
awhile with many different ailments.
But the road is a long road.
And doctor, let's talk about that road.
Three years to get a diagnosis, three years of
a mother knowing, you know, something's not right here.
She gets the diagnosis.
Is Jackson's history typical for patients
with Hunter Syndrome?
Well unfortunately it is typical that
a patient sees multiple physicians, many doctor visits,
for a lot of different complaints.
Until they finally get that diagnosis.
The specific combination of findings varies
quite a bit from child to child.
But certainly that diagnostic odyssey of searching for a
diagnosis is a very very common phenomenon.
And Carrie, obviously you're here today
because we need to create that awareness and educate others
about this Hunter Syndrome.
Support groups, do they help you also, once you got that
diagnosis?
Most definitely.
The support of your family and
friends is very important but then we reached out, right after
that appointment, and we found a connection through the National
MPS Society.
They were a great resource for families just to
learn about the disease.
But also to help you in this journey
that you're taking.
The website for that is www.mpssociety.org.
And I'd be just tremendous amount of help for us as a
family.
And doctor, what advice would you give to parents out
there who may suspect that maybe their child has Hunter Syndrome?
Well, if there are multiple medical issues like we've been
discussing, I would recommend they talk to their pediatrician
and seek consultation from a specialist like a geneticist.
Early diagnosis is so terribly important to ensure that a child
gets the appropriate medical care.
And do you have a website for our viewers to learn more
about it?
Information is available at a website called
hunterpatients.com.
Hunterpatients.com.
Yes.
Carrie, for anyone out there who may be,
you know, experiencing this, or may not know, what what would
you say?
I would say please just follow your gut.
Go with your instincts.
You know as a parent that if something's just not
right, search til you find the answer.
Thank you so much for your time and for the education
you've given us this morning.
Carrie, thank you so much for bringing your son and sharing
his story.
Jackson, thank you so much.
Do you get along with your sister?
That's good too.
Thank you.
God bless him.
Thank you.
Thank you Carrie.
Bye Jackson.
Thank you.
And for more information on managing Hunter
Syndrome, please visit hunterpatients.com or our
website thebalancingact.com.
MUSIC What an incredible show with
such amazing people Julie.
Yes indeed.
It takes so much strength and courage to take
your adversity straight on.
Be sure to keep an eye out for
other Behind the Mystery segments in the future.
And well that's our show for today.
Head to our Facebook page and our
website and always follow us on Twitter.
We've got lots more there.
Thanks for watching everybody.
We'll see you next time.