FOP Family Gathering

In the beginning of December, the Int'l FOP Association hosted a family gathering in San Francisco. The IFOPA started hosting family gatherings over 10 years ago.  The purpose is to bring together patients and families in a local region, in our case the West Coast, to learn about the latest FOP research, interact with the world's leading FOP clinicians and to connect with other patients, their families and caregivers.

There were people from Seattle, Sacramento, San Francisco, Fresno and Southern California.  We also had some FOP'ers come from other parts of the country.  It was nice to finally meet some of the friends I had made through the IFOPA's Facebook page in person.   Felt like catching up with old friends.

We heard from two different pharmaceutical companies on their current research and drug trails.  Hayden was also able to meet with the researchers and Dr. Frederick Kaplan to talk about his personal journey with FOP.

Hayden's Hope - 2nd Annual Dipsea Run for FOP Research #cureFOP

Please support me on my Dipsea run honoring Hayden and FOP research by donating to the International FOP Association.  Click here to make a donation.

3rd flight of the Dipsea Steps in
Mill Valley

On Sunday June 11th, I will run the 107th Dipsea Race in honor of Hayden, to bring awareness for FOP and to raise funds for research.  The Dipsea Race is a 7.4 mile trail race from Mill Valley through Muir Wood and ending in Stinson Beach.  600+ stairs are scattered throughout the race. 

Fibrodysplasia Ossificans Progressiva is a rare and debilitating genetic condition that essentially turns muscle into bone, creating a second skeleton in the body.  Currently there is no known cure.  There are 800 people in the world affected with FOP -  285 of those people are here in the United States.  

Hayden was diagnosed with FOP almost 14 years ago.  Since then, the FOP lab at the University of Pennsylvania, has discovered that the ACVR1 gene causes FOP.  Armed with that information, the FOP Lab in conjunction with the International FOP Association, have reached out to pharmaceutical companies to explore the possibility of a cure.

Hayden and his sister Elsa

Today, we are in Phase 2 drug trials with Clementia Pharmaceuticals for a drug called Palovarotine.  The drug is showing much promise.  Hayden is currently enrolled in Clementia's Natural History Study which will help researchers understand the progression of FOP and how an investigational treatment might affect the course of the disease. 

FOP is designated as a rare disease by National Organization for Rare Diseases.  Few rare diseases have a therapy or cure.  Most funds for research for a rare disease come soley from family fundraisers.  The FOP lab at the Department of Orthopaedic Surgery at U of Penn has a budget of $1.5 million/year for research.  75% of these funds come from family fundraising and donations.  25% come from institutional support (NIH/NIAMS, Orthopaedic Research and Education Foundation).  

Hayden and his cousins.

Please support me on my Dipsea run honoring Hayden and FOP research by donating to the International FOP Association.  Click here to make a donation.https://ifopa.salsalabs.org/teamcurefop/p/haydenshope2ndannualdipsearunforfopresearchcurefop

To learn more about the International FOP Association go to www.ifopa.org.

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

Washington, 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 McGinn, Christine 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 USA, Biogen, CSL Behring, Intercept Pharmaceuticals, Jazz 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.

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