Hayden's Hope

Thursday, February 29, 2024

Rare Disease Day 2024

  rare/re(ə)r/ Adjective

1.) marked by unusual quality, merit or appeal, distinctive
2.) seldom occurring 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.
FOP is a rare disease.

Less than 5% of rare diseases have 
any therapies or treatments.
And 70% of genetic rare diseases 
like FOP start in childhood

There are over 6,000 identified rare diseases with no cures.

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

FOP affects 1 in a million people, 
so its not just rare,
it's ultra-rare.

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

...pharma companies who pursue the discovery of 
treatments and drug trials
There are currently 9 ongoing drug trials for FOP treatments.  

...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, who stood up to FOP by starting 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 create a 501c to support fundraisers for research.  

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, 
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.