Saturday, April 23, 2016

10 Years Ago Today

In early, 2006, I heard the words through the telephone, “Megan, they have discovered the gene.” It was a phone call from the then president of the board for the IFOPA, Amanda Cali, telling me that the FOP lab had discovered that the ACVR1 gene is the cause of FOP.  I can’t tell you the emotions that ran through me.  I was so ecstatic; all I could do was cry. 

The lead researcher at the FOP Lab at U of Penn, Dr.Frederick Kaplan, had been in Germany for work. He received a call from Meiqui Xu who was part of the research team at U of Penn. Meiqui told Dr. Kaplan that she was certain she had found the gene that caused FOP. Cautiously the team began the process of double and triple checking their findings until they were certain that the ACVR1gene was in fact the one, which causes FOP.

ACVR1 Gene
On April 23, 2006, ten years ago today, Penn Medicine held a press conference to announce the findings.  I was honored to be able to be in Pennsylvania to share the joy and celebrate with Jeannie Peeper, the founder of the IFOPA, Dr. Kaplan and Dr. Shore, along with the researchers from the FOP Lab and of course many of the families from the FOP community.

In honor of that important announcement, April 23rd became International FOP Awareness Day.
Post Press Conference with other FOP Moms - from left to right
Hillary Weldon, Amanda Cali, Jennifer Snow and Jerry Licht.
After Hayden was diagnosed in 2002, I started researching about FOP and rare diseases. I learned words like “orphan drugs”, “mouse model”, “humanitarian exception”, “BNP Receptors”, “Noggin Gene”and “heterotopic” to name a few.   Of all the words that were new to me one word kept me going, “HOPE”.  

Of the 7,000 rare diseases listed in the NORD directory, only 4% have a cure or therapy. Today, the IFOPA is in drug trials with Clementia Pharmaceuticals with a drug that shows strong hope of bringing a therapy for our FOP Community.  Recently the Journal of Bone and Mineral Research published online a non-Clementia sponsored study describing palovarotene’s novel, beneficial effects on spontaneous heterotopic ossification, mobility, and skeletal growth in mouse models of fibrodysplasia ossificans progressiva.

So much has happened since Hayden’s diagnosis. It is truly amazing. What a journey it has been. Thank you all for your support.

Monday, February 29, 2016

World Rare Disease Day 2106

Today, February 29th, 
World Rare Disease Day

It seems fitting that today the 40th and last participant has enrolled into the Clementia Phase 2 clinical trail that is investigating palovartene for the treatment of FOP.

When Hayden was diagnosed September 11, 2002, hope seemed to 
very, very far away.  However the following pretty much sums up the FOP Community.
"Alone we are rare. Together we are strong."

Nothing demonstrates this more that the determination of our families who fundraise, our board members who guide us along our mission and the researchers who are continually on a quest to discover a cure.

World Rare Disease Day is an annual observance held on the last day of February to raise awareness for rare diseases and improve access to treatments and medical representaiotn for individuals with rare diseases and their families. 

Hayden in Tahoe - 4th of July 2015

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

Friday, December 5, 2014

A Hope for FOP & Hayden: FDA Approves Fast-Track Designation for Palovarotene

Clementia Receives Fast-Track Designation from FDA for Palovarotene

MONTREAL, Dec. 1, 2014
The IFOPA is pleased to share news that Clementia Pharmaceuticals received Fast Track Designation for palovarotene for the treatment of FOP.  This designation does not impact the clinical trial that is taking place for our FOP community.  To download and read the entire announcement please click on Clementia Receives Fast-Track Designation from FDA for Palovarotene.

Tuesday, December 2, 2014

Giving Back #GivingTuesday

Today is ‪#‎GivingTuesday‬, a global day dedicated to giving back. This year more fundraisers for the IFOPA were held via running events than ever before. Please consider donating to the Girls with Grit Run (http://haydenshope4fopresearch.blogspot.com/…/2014-haydens-…) & the Int'l FOP Association which will support the research efforts to find a cure for FOP. http://www.ifopa.org/donate-now.html.

We just celebrated a day for giving thanks. In the USA we have two days for getting deals to purchase new items. Now, we have ‪#‎GivingTuesday‬, a global day dedicated to giving back. 

Today, December 2, 2014, people around the world will come together for one common purpose: to celebrate generosity and to give.We thank each of our donors, fundraisers, volunteers, members, advocates, doctors and researchers who give to the International FOP Association. Thank you for supporting our mission to fund research to find a cure for FOP while supporting individuals and their families through education, awareness and advocacy.Please click on this link to give today http://www.ifopa.org/donate-now.html and thank you for sharing this post which features some of our supporters who ran this fall to raise FOP Awareness and funds for FOP research.

Monday, September 22, 2014

2014 Hayden's Hope Fundraiser Presents "Girls with Grit"

Click here to donate to the Hayden's Hope Girls with Grit Fundraiser.

    2014  H A Y D E N’ S   H O P E   
            F U N D R A I S E R

  girls with grit

On Sept 19 & 20th fourteen amazing women participated in the Ragnar 24 Hour Relay San Francisco to Napa Valley on behalf Hayden's Hope.

Left to right - back row
Donna Cannon (our wonderful pacer who helped us when we weren't running so well), Bryne Powell, Lora Anderson, Deena Pontius, 
Louise Roberts, Monique Lecomte, Caroline Dowd, 
Monika Kaplan, Erin Wendt

Left to right - Front row
Julie Neff, Bonnie Carlson Kaypaghian (our amazing "Fairy Ragnar-Mother" and Van Driver) , Carol Tagliaferri, Liz Lawler (instigator and Team Captain), Megan Olsen, Oscar the dog - Team Mascot

Girls with Grit placed 5th in our Division!!             

Hayden’s Hope raises funds to benefit the International FOP Association (IFOPA) for FOP RESEARCH & AWARENESS.  The IFOPA is a 501c3 non profit organization.

What is FOP?
FOP is one of the rarest genetic conditions known to medicine.  Currently there are 285 confirmed cases in the United States and 800 confirmed cases worldwide. This disabling genetic condition causes bone to form in muscles, tendons, ligaments and other connective tissues, progressively restricting movement and forming a second skeleton that imprisons the body in bone.

Fundraising for FOP
The annual budget of the FOP Research Lab is $1.5 million.  About $500,000 of that amount is provided by the IFOPA and is raised by donations and family fundraisers such as Hayden's Hope.

Facts about Hayden, FOP Research 
& the IFOPA
September 2002 – Hayden is diagnosed with FOP
November 2003 – First Hayden’s Hope Fundraiser for FOP Research is held in Sausalito raising $75K
April 2006 - The ACVR1 gene that causes FOP, discovered at the FOP Lab, is announced in Nature Genetics Magazine
June 2013 – 25th anniversary of the founding of the International FOP Association
June 2014 - Hayden's Hope receives IFOPA Jeannie Peeper Award for Outstanding Community Involvement
July 2014 – Clinical Trail announced for Clementia Pharmaceutical’s Palovarotene.  

You may also donate by mailing a check made payable to "IFOPA".
In the memo write “Hayden’s Hope Girls With Grit”.

Mail Check to: 
101 Sunnytown Road, Suite 208
Casselberry, FL  32707