(music.)
If you're a regular viewer here on the show.
You know how commited we are to raising
awareness to those rare diseases that often get
overlooked or miss-diagnosed.
So our Behinf The Mystery continued it support of
The Rare Disease Community by attending the World Orphan Drug
Conress in Washington DC this April.
It's really amazing.
Over a thousand global attendees' came together
to discuss the latest trends in Orphan drug research, advacy and
action, influencing drug development and bio-techs,
discussing gene theropies.
Take a look.
They're called rare diseases, in the US
and Europe 60 million are affected.
Worldwide the numbers even more Staggering, with an estimated
350 million Men, women, and children
suffering some form of rare disease.
The nation's
capital played host to this year's
orphan drug Congress USA and it was a
packed house.
With professionals from
pharmaceutical, advocacy, and patient
groups attending all with one purpose to
find treatments for the 7,000 rare
diseases and disorders.
We're bringing around 800 stakeholders
from the orphan drug and rare disease
industry to meet, brainstorm, and dialogue
about the challenges and opportunities
in orphan drug development and rare
disease research.
There's nothing more energizing than
being in a room like this with 800
people all passionate about rare disease.
Hunter syndrome is but one type of rare
Disease, an inherited metabolic disorder
causing permanent and progressive damage.
One pharmaceutical company is taking on
the challenge.
It's incredible really to
come to a congress, where there are so
many people who are focused on such rare
conditions.
Rare diseases can affect anyone at any
age, nearly half of all people affected
by rare disease are children and 30%
won't live to see their fifth birthday.
One of our heart and soul is dealing
with these rare orphan patients, especially in a pediatric
designation I'm really just you know
obviously no one wants to see sick children,
and that is a cause like near and dear to
our Heart.
While big business and even big
pharma have their critics, a core of
pharmaceutical companies are truly
stepping up to the plate, donating time,
Resources, and people power to help
discover therapies and ultimately cure.
In a roundtable that we had this afternoon we had a person from a
patient advocacy group say how it's
really typical to go against pharma but
pharma also the people who are
producing the drugs that are saving these kids
lives, so I do think it's nice for
organizations and conferences such as this
that brings everyone together, brings the
advocacy Groups, and brings the
pharmaceutical groups together to see that
there is a human side of this, they don't
just care about the bottom line they
really care about the patient's I think it's
good for everyone to see that.
Heroes come in all sizes and backgrounds
this wife and mother originally from
Dubai is a teacher living in Nebraska
meeting Lazarre's pure passion as a
patient advocate resonates through all
seven languages ,she speaks including
English.
I live with a very rare skeletal
dysplasia Called Jansen Type Metaphyseal
Chondro dysplasia it's one of the very ultra
rare diseases, only 22 cases worldwide
only four confirmed cases in America, and
three of them are in my family with
myself included so that's why I'm here
to push for funding to get more research
into the disease because we have researchers at the Boston Mass
General Hospital working on a cure and
so we are looking at getting that cure to
clinical Trials.
The rarefied air of passion for a
cause filled the room at this year's
Orphan Drug Conference.
You know you
couldn't be an advocate, you couldn't be
an advocacy leader if you didn't have a
passion or or or some sort of connection
that motivates you to spend all this
time and all this energy doing this; two
of my three daughters have the disease
one passed away back in 1995, the second
who was the older one oh she was 14 at
the time and they said she lived to be
18 or 20 she's now 36, and so we're
blessed by that but at the same time
we're challenged because it says how
little we know about the disease because
that's a surprise it's a surprise
blessing for us.
This is a great conference to connect
with all the different kind of stakeholders, patience, patient
advocacy organizations, vendors and
partners and, those have a lot of clients here
so, we'll often do a talk or two as
kind of thought leaders in the space
it's important for us to kind of
share our recent experience and some of
the innovative approaches we're
doing and I find that this conference is
growing each year and it's becoming a
better and better venue all the time as a
platform for that.
Patient portals on the world
wide web are making for a better patient
based management.
We're here to explain
how digital can support patients who
have rare diseases, patients who have
rare diseases have additional unique
challenges beyond other chronic conditions and digital offers
some advantages in helping what we
do, which is personalize page engagement
and Support.
It was hard to find anyone who didn't
have a personal story to share, it's what
makes this conference so special.
My sister was diagnosed with
pulmonary hypertension 18 years ago they
told her she was 28 years old they told
her she wasn't going to live to see her
30th Birthday, and yesterday was her
birthday she turned 47 she's alive
because of the Pulmonary Hypertension
Association driving research, there are now
14 therapies for pulmonary
hypertension.
Pulmonary Hypertension Association would
not exist if it wasn't for the National
Organization of Rare Disorders.
It really is the most fulfilling part of my
job which is the chance to meet with
Patients, their families, their parents
and you know some of them some of the
most memorable moments of my entire
journey through this company at SPARC I
founded the company actually in 2013 and while
I've had the chance to meet tons and
tons of people in all sorts of circles
the ones that I remember most are those
meetings with a mother of a daughter who
had had the prospect of losing her
vision and or already had lost her
vision and now you know being able to
participate in a clinical trial and and
in the change that they express psychologically I think more
than anything is really a powerful
and powerful statement for me to
hear and is the type of thrill and
fulfillment that I get from this job more than
anything else.
And that's why we do what we do
that's why we're in this industry is we
really care about the patients and we
just want to see the ability to improve
lives.
Absolutely.
(music.)
So great too see Amber, all those people coming together
to fight for awareness and advacy.
So important.
It's so important, especially in this day and age.
You know, we're gonna continue to bring you more Behind
The Mystery and you can always learn more by going to our
website, TheBalancingAct.com.
We'll be right back.
(Music)