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Saturday, March 18, 2017

Dr. Frederick Kaplan honored by NORD with the 2017 Rare Impact Award

NORD Announces Honorees for the 2017 Rare Impact Awards 

Posted by Jennifer Huron
ria_jointheconversation_dateWashington, D.C., March 15, 2017—The National Organization for Rare Disorders (NORD) today announced the people, organizations, and innovators who will be honored at the 2017 Rare Impact Awards on May 18 in Washington, D.C.
The Rare Impact Awards is a charity event that celebrates those who are boldly leading efforts to make a difference for people living with rare diseases.  The benefit is hosted by NORD, the leading independent nonprofit organization representing the 30 million Americans with rare diseases, and brings together supporters of the organization’s mission.
“There are 30 million Americans living with rare diseases and more than half of these people are children,” said Peter L. Saltonstall, president and CEO of NORD.  “This evening will showcase the remarkable stories of those are who creating a brighter future in which every person with a devastating medical condition has access to a cure.”
The 2017 honorees include patients Ellie McGinnChristine Grube, and Brandon Hudgins; caregiver and White House Precision Medicine Initiative appointee Matthew Might, Ph.D.; patient and advocate Beth Nguyen, R.N.; researchers and clinicians Robert Desnick, Ph.D.M.D.Frederick Kaplan, M.D., and Cynthia Tifft, M.D.; national health leaders Rep. Diana DeGette (D-CO) and Sen. Johnny Isakson (R-GA)A Twist of Fate – ATS, a nonprofit patient organization serving the Arterial Tortuosity Syndrome community; and industry innovators Advanced Accelerator Applications USABiogenCSL BehringIntercept PharmaceuticalsJazz Pharmaceuticals, and Sarepta Therapeutics.
Nationally touring music artist and winner of NPR Music’s 2016 Tiny Desk Contest, Gaelynn Lea, will perform original songs during the event in support of the millions of people with rare diseases.  In addition to her work as a performing and recording artist, Gaelynn is a public speaker who uses her music as a platform to advocate for people with disabilities and to promote positive social change. The David Bach Consort will also perform.
The Rare Impact Awards serves as a NORD’s signature fundraiser to support the organization’s mission of providing education, advocacy, research, and patient support for the 1 in 10 Americans who are battling rare diseases. More than 350 distinguished guests are expected to attend.
The event is presented with support from benefactor sponsors Sanofi Genzyme and Shire and diamond sponsors BioMarin Pharmaceutical and CSL Behring.
To purchase tickets, visit rareimpact.org/awards.

Tuesday, February 28, 2017

Rare Disease Day 2017

rare/re(ə)r/ Adjective
1.) marked by unusual quality, merit or appeal, distinctive
2.) seldom occuring or found uncommonly

Typically when we think of something as rare, 
we think of something special, 
unique or hard to come by.

Something spectacular such as the Hope Diamond,

 or discovering long, lost ancient ruins


or even a fossilized sand dollar 
such as the one I found recently on the beach.


Rarely, no pun intended, do we like to associate 
the word "rare" with an illness. 
However there is nothing spectacular about 
receiving a diagnosis of a rare disease. 
It is, in a word, devastating.

Less than 5% of rare diseases have 
any therapies or treatments.

There are 7,000 identified rare diseases with no cures.

350 million people have a rare disease.  
That is more than all those with 
Cancer and AIDS combined.

Finding funding for research, advocacy 
and community outreach 
for these orphan diseases, 
as they are called, is beyond challenging.

However within this rare community of people,  
there is something special about a rare disease, 
the people.

These special people are… 

...the scientists who study it,
Researchers in the FOP lab at University of Pennsylvania.
Meiqi Xu, Drs Frederick Kapkab and Eileen Shore

...the patients and families who live with it
Hayden Pheif, skiing in 2008, at the Far West
Disabled Sports Center in Alpine Meadows, CA

...the amazing people who have only yet learned of FOP and
 will go to "great lengths" to fundraise for research
which will help to find a cure
Team "Girls with Grit" ran the Napa Valley Ragnar
(36 hour - 206 Mile) Relay in September to as a fundraiser
for Hayden's Hope
.

...Jeannie Peeper, the most inspirational woman I know.
Jeannie, who has FOP, started the International FOP 
Association 25 years ago. Her goal was and
is to raise awareness, provide outreach to
families and those effected with FOP as well as
to provide a 501c to support fundraisers for research.  
Today, because of Jeannie,
Clementia Pharmaceuticals is in Stage Two of
Drug Trials for a therapy for those with FOP.
Jeannie Peeper with Dr. Frederick Kaplan,
head of FOP research at U of Penn, at the 25th
anniversary IFOPA celebration.

These people are rare in a very special way.
They give us hope.

Even though the people afflicted with rare diseases 
create a very large community, 
their conditions remain largely unknown 
to the vast majority of the world population.  

Today, February 28th, 
is 
Global Rare Disease Day.

This day was created in the United States 
by the National Organization for Rare Diseases (NORD) 
to raise awareness and 
increase advocacy for these special diseases,
as well as to provide hope to the 
patients and families afflicted by them.

Please join me in by honoring those whocourageously live with a

Rare Disease by donating to the IFOPA