Hayden's Hope

Saturday, February 28, 2015

Rare Disease Day 2015

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, 
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


Friday, February 27, 2015

Rare Disease Day - Tomorrow February 28th

Thank you to Global Genes Project for this great article.

RARE Diseases: Facts and Statistics

Statistics and Figures on Prevalence of 
Genetic and Rare Diseases
Although rare and genetic diseases, and many
times the symptoms, are uncommon to most doctors,
rare diseases as a whole represent a large medical
challenge. Combine this with the lack of financial
or market incentives to treat or cure rare diseases,
and you have a serious public health problem.
Here are a few statistics and facts to illustrate the
breadth of the rare disease problem worldwide.

There are approximately 7,000 different types of
rare diseases and disorders, with more being
discovered each day

30 million people in the United States are living with
rare diseases. This equates to 1 in 10 Americans or
10% of the U.S. population

Similar to the United States, Europe has approximately
30 million people living with rare diseases. It is estimated
that 350 million people worldwide suffer from rare disease

If all of the people with rare diseases lived in one country,
it would be the world’s 3rd most populous country

In the United States, a condition is considered “rare”
if it affects fewer than 200,000 persons combined in
a particular rare disease group. International definitions
on rare diseases vary. For example in the UK, a
disease is considered rare if it affects fewer than 50,000
citizens per disease

80% of rare diseases are genetic in origin, and thus
are present throughout a person’s life, even if symptoms
do not immediately appear

Approximately 50% of the people affected by
rare diseases are children

30% of children with rare disease will not live to see
their 5th birthday

Rare diseases are responsible for 35% of deaths
in the first year of life

The prevalence distribution of rare diseases is
skewed – 80% of all rare disease patients are 
affected by approximately 350 rare diseases

According to the Kakkis EveryLife Foundation,
95% of rare diseases have not one single FDA
approved drug treatment

During the first 25 years of the Orphan Drug Act
(passed in 1983), only 326 new drugs were 
approved by the FDA and brought 
to market for all rare disease patients combined

According to the National Institutes of Health Office 
of Rare Disease Research, approximately 6% of
the inquiries made to the Genetic and Rare 
Disease Information Center (GARD) are in
reference to an undiagnosed disease

Approximately 50% of rare diseases do not have a
disease specific foundation supporting or
researching their rare disease