(Singing) "Tell me Amy, why do you still insist on coming knocking on my door when you know
how just..."
The Amy that 36-year-old Dylan Duncan writes and sings about is not a love that was lost.
Amy is short for Amyloidosis, as in transthyretin-mediated amyloidosis, or ATTR.
A rare debilitating disease which he inherited and is now battling.
In this Behind the Mystery Rare and Genetic Segment, we'll examine this metabolic disease.
The Balancing Act's Christopher Cox travelled to Boston for some insight from Dr. John Berk,
Associate Professor of Medicine at Boston University and Clinical Director of its Amyloidosis
Center.
And that's where we also met Dylan Duncan.
Dylan Duncan is a songwriter and musician.
He's also one of 50,000 patients impacted by Transthyretin-Mediated Amyloidosis, or
ATTR.
I went in for my genetic testing at the age of 26.
So, I found out the had the gene for the disease, and a year later I got a Fat Pad Biopsy, which
was then used to determine whether or not symptoms had started.
Dylan Duncan has been John Berk's patient for nearly eight years.
They know each other well.
We met first in 2007, and at the time he was I think 27-years-old.
He had watched his mother become ill and undergo a liver transplant, and subsequently die.
Disease symptoms may vary dramatically.
Imagine having the various symptoms of the disease, yet doctors are unable to find the
cause of your specific condition.
ATTR is a hereditary disease that culminates in injury to nerves in particular and secondarily
to heart.
Dylan was 27 when he was diagnosed.
But for him, it came as no surprise.
How old was your mother when she was actually diagnosed?
I want to say 37, 38.
I know she was sick for about five years, and she passed away when she was 45.
The abnormal gene is passed from a parent to the patient, and it's approximately a 50/50
proposition every time an affected parent has the child.
My grandfather had lost his wife to the disease.
So he knew very well how dangerous it was.
As his two daughters became sick, he was just very aware of the need for both my sister
and I to get tested for Amyloidosis.
So, when I was 26 and I called him up and told him that I received a positive diagnosis
of having the gene, he cried.
He was very emotional about it.
Doctor, what are the symptoms of ATTR?
People will typically develop some burning, tingling, or numbness initially of their toes,
and there is evolution up the leg until they reach approximately knee involvement.
At which point, their fingertips and hands become involved.
There can also be remarkable disfunction of the GI tract so that diarrhea or profound
constipation can be problematic.
Back when I was like really worried about symptoms showing up, I would be in the shower
and I would put my leg in the hot water to see if I could feel it.
So, some days if I wasn't feeling anything in my legs, I didn't know.
But that's what sent me off into figuring out whether or not I had it or not.
First symptoms that I was experiencing the amyloidosis were the carpel tunnel, which
is what they say one in four patients experience.
But it was very strange.
Like I would feel complete numbness in my entire arm, and I'd have to hang my arm over
the bed just to get the feeling back.
And that happened around 26, 27.
That's why I went in to get tested.
Things were starting to develop when my gastrointestinal issues and numbness more in my calves I was
experiencing, and I've heard that a lot of the numbness will happen kind of starting
in the feet and going upwards.
There's some competing diagnoses, ones that have very similar symptom complex, and as
a consequence neurologist will turn to those diagnoses without considering amyloid.
While currently there are no drugs specifically approved for ATTR in the United States, there
are limited treatment options.
There are clinical trials ongoing right now that are focused on not simply stabilizing
the abnormal protein but eliminating it completely.
New treatment options currently under development may give ATTR patients and their families
hope for the future.
I do have to get ahold of your sister, and I hope things are going okay.
We imagine a world where patients with ATTR are living full, healthy, high-quality lives.
But it's important for patients to get involved.
Diagnosis is critical, so we ask patients to get heavily involved in their diagnosis
and bring others if they, in fact, do get diagnosed with TTR Mediated Amyloidosis in
because it is a dominant autosomal inherited disease.
Dylan Duncan continues to perform his favorite hobbies such as painting.
He also enjoys hanging with his group of supporter friends, and of course, he continues to play
his guitar.
There's one particular song that you wrote called Hello Amy.
Tell us about that song.
Amy is short for Amyloidosis, and so what I did was I actually wanted to just personify
it and make it almost sound like it's a girl that you want out of your life, like an ex-girlfriend
or something like that.
You know?
(Singing).
"Hello Amy.
I didn't expect you here this soon.
You're not due for quite a while."
Are you still hopeful about your condition and ultimately yourself and your life?
Yes, very much so.
There are moments when I get really really scared, especially since symptoms are starting
to kind of show themselves.
It's hard not to think negatively sometimes just seeing what happened with our mother.
But absolutely, there are so many new advances that weren't happening around the time that
my mom was, or if they were, at least they weren't being so widely explored.
It's very encouraging and very hopeful.
His music takes on new meaning.
Gone are the Hello Amy lyrics.
Today, he sings about...
(Signing) "I could offer you my ears.
They are open wide for you."
A special thank you to Dylan for sharing this personal story with us this morning, and thanks
to everyone for sharing this information on ATTR.
For more information on a free third-party screening program, go to TTRScreen.com or
call toll free 1-855-338-3721.
(music).