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A day to highlight humanness, acknowledge progress
Since it was founded in 2008, Rare Disease Day has been observed on February 28 (or 29 in leap years) – the rarest day of the year. It’s a day meant to elevate awareness of rare diseases and the challenges that patients and their families face.
Ironically, according to a study done by RARE-X last year, due to advances in genetics and genetic testing, rare diseases are becoming less and less rare, making Rare Disease Day more and more important. There are now more than 10,000 rare diseases affecting more than 350 million people, or about 10% of the world’s population.
RARE-X, the patient data sharing platform – and Global Genes – the rare disease patient advocacy organization – completed a merger at the end of 2022.
Charlene Son Rigby,
CEO of
Global Genes
and a rare
disease
parent, says
to her Rare
Disease Day
is an
opportunity
to highlight
the
humanness of
rare
diseases.
“There's so
much beauty
in our
children,
like my
daughter,
and rare
disease
patients in
our
community,
and I think
it's really,
really
important
for people
to have
visibility
into that,”
said Son
Rigby.
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Chief Scientific Officer Corner, Volume 2: ICD-10 Codes
Hello fellow members of our KS
family!
For this newsletter, I’d like to
talk about ICD-10 codes, and why we
are currently applying to the
Centers for Disease Control (CDC) to
create an ICD-10 code for Kleefstra
Syndrome (KS). If you aren’t in the
medical field, you are probably
saying “ICD what?” Don’t worry, I’ll
take you through it.
Whenever you go to the doctor with
an ailment, they will enter your
diagnosis into a coding system that
precisely defines what is wrong.
These ICD1 codes allow
for patients to easily be tracked
and looked up in medical record
systems. They are also used by
insurance companies to help
determine coverage that will be
provided for interventions. The list
of all available codes can easily be
searched with a tool provided
by the CDC.
To understand the importance of
having a code (and since it’s
winter) imagine you have an accident
on the ski slopes. There’s already a
code for that in ICD-10! But imagine
there isn’t such a code. In that
world, your doctor could only enter
the symptoms you experienced: maybe
headache, a sprain of your knee, a
fracture, a chipped tooth, etc. All
of the effects of your
accident are then in the tracking
system, but not the true
cause.
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Building a Brighter Future, Together: ACE Fundraising Initiative
ACE: Activate Community Engagement.
In last month's Impact Report, we stated our goal for 2023 is to "drive the science to drug development" through investment in at least two
discovery phase projects focused on
either ASO’s, gene therapy, or small
molecules. Our ACE fundraising initiative is our program to enable our community to raise critical funds to support IDefine’s mission. Every ACE fundraising campaign can be assigned to any one of our 3 pillars of driving research, supporting the Kleefstra Clinic, or building community through opportunities like our conferences.
We understand that asking for money is not always easy, and everyone’s experience with fundraising is different. A great way to get started is by creating your own campaign page, which can make things feel both fun and personal. You can also start brainstorming event ideas that you think would resonate with your specific friends and family. Organize a Bike Ride, a Walk, a 5k, a Gala, or a Big Cookout! The options are truly endless! All it takes is your commitment to do something--don’t be intimidated or nervous!
We are here if you need help with any of it. Please reach out to fundraising@idefine.org and we’ll support you in your effort!
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Quick Clips on Kleefstra
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Babiators
"Every Day We Shine"
Project: A
big THANK YOU to the team at
Babiators for
featuring our community and
effort via their "Every Day
we Shine" Campaign.
Babiators raised $1,301 for
us! Here's a link to
the feature: Babiators Instagram.
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Restaurant
Fundraisers: With
the Eat Justice Initiative
being so successful, we are
optimistic that others could
easily join such an effort.
All we have to do is
make the
ask!
To give you the tools
to do so, we have created an
infographic outlining the
opportunity and the steps to
pull it off. As
always, don't hesitate to
reach out for support!
Restaurant Charity Partnership Infographic
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IDefine
Slack Channel:
Interested in further
connecting with IDefine and
the Kleefstra community?
Join our IDefine Slack Channel!
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Sleep
Study
Enrollment: We are looking for participants for an inventory study on sleep within Kleefstra syndrome. Anyone older than 3 years with Kleefstra syndrome can participate in this study. Participation is voluntary, and if interested, please reach out to sleep.gen@radboudumc.nl
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IDefine, Inc
925B PEACHTREE STREET NE BOX 2173 | Atlanta, Georgia 30309
unlock@idefine.org |
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