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