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.

   

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.

INTERNATIONAL FOP ASSOCIATION
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.

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

                        presents

  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 – 25^th 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: 

IFOPA

101 Sunnytown Road, Suite 208

Casselberry, FL  32707

Click here to learn more about FOP  

Click here to learn more about the Ragnar 24 hour Running Relay from San Francisco to Napa Valley.

Hayden's Hope 2014 Fundraiser Sept 19-20th

Please join us in raising funds for research and awareness for FOP by clicking here.

Join us on September
19 & 20th while a
team of 12 women run
the Ragnar Relay from
San Francisco to Napa
in honor of Hayden's Hope.




For more information on 
Team Girls With Grit
and our mission to raise
research fund and awareness
for FOP click here.

Girls with Grit Run for Hayden's Hope

Please join us in raising funds for research and awareness for FOP by clicking here.

Join us on September
19 & 20th while a
team of 12 women run
the Ragnar Relay from
San Francisco to Napa
in honor of Hayden's Hope.




For more information on 
Team Girls With Grit
and our mission to raise
research fund and awareness
for FOP click here.

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

                    presents

  girls with grit

             Girls With Grit Team            

          Team Leader: Liz Lawler

                   Megan Olsen

                  Monika Kaplan

                 Carol Tagliaferri

                      Julie Neff

                  Caroline Dowd

                     Erin Wendt

                    Bryn Powell

                  Deena Pontious

                   Lora Anderson

Date: September 19-20^th

Twelve amazing women will be running the

Ragnar 24 Hour Relay from San Francisco to Napa Valley on behalf Hayden's Hope.

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 – 25^th 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: 

IFOPA

101 Sunnytown Road, Suite 208

Casselberry, FL  32707

Click here to learn more about FOP  

Click here to learn more about the Ragnar 24 hour Running Relay from San Francisco to Napa Valley.

Clementia Pharmaceuticals received U.S. Orphan Drug Designation for Palovarotene for the treatment of FOP.

The news just keeps getting better!  

"The IFOPA is pleased to share news, that Clementia Pharmaceuticals received U.S. Orphan Drug Designation for palovarotene for the treatment of FOP. This designation does not impact the clinical trial that is taking place for our FOP community. Please visit the IFOPA’s Drug Development page to download and read the entire announcement and other information about the palovarotene clinical trial by clicking on this link http://www.ifopa.org/drug-development.html. "

Clinical Drug Trial Announcement

An amazing day!!

July 14th was a historic day in the FOP community. We at the IFOPA are thrilled to see Clementia’s trial start. This is a time of great hope in our community. Amidst the excitement, it’s important to remember that a clinical trial is NOT a treatment. As the Penn team said in their 2014 (23rd) annual report, “… clinical trials should not be viewed as clinical treatments, but rather as well-controlled and well-supervised experiments in which a patient is putting himself or herself at risk to determine if there is potential benefit to the drug under study.”

To get more information about Clementia’s Phase 2 trial, please read their list of frequently asked questions (FAQs), which you can find on the IFOPA’s new Drug Development page http://www.ifopa.org/drug-development.html

Hayden's Hope Awarded Jeannie Peeper Outstanding Community Involvement Award

Outstanding Community Involvement Award is presented to an organization, family or individual of promoting and maintaining a high standard of FOP community involvement that includes fundraising and/or awareness activities. To be eligible for this award, a major fundraising project must have been completed or exceptional FOP community service performed within the past five years.

Selection criteria are:
- Organized major fundraising or program-related activities to benefit the IFOPA in the past five years.
- Innovation and creativity in solving a problem or meeting a need in the FOP community.
- Encourages and engages in FOP volunteerism in the community.
- Has developed creative fundraising or awareness solutions that may serve as a model for others.
- Encourages and motivates others to assume leadership roles in philanthropy and increase community involvement.  

Hayden's Hope for FOP Research

Hayden at his 8th Grade Graduation June 2014

"Hayden's Hope was inspired by its namesake, Hayden Pheif, an adorable young boy who is now an amazing teen with FOP.  Hayden's Hope was started by Hayden's mother and father, who led fundraising efforts in Northern California with the help of many relatives and friends.  Year after year, Hayden's Hope provided significant revenue, which isn ow close to one million dollars in total donations.  These donations propelled the IFOPA mission forward.  All their efforts have helped bring FOP awareness to the forefront and these funds have significantly advanced FOP research.  Today, Hayden's Hope continues its efforts on-line with website and blog, while still raising awareness and funds for research and other IFOPA programs. " 

25th Anniversary of the International FOP Association

Fibrodysplasia Ossificans Progressiva (FOP) is one of the rarest, most disabling genetic conditions known to medicine. It causes bone to form in muscles, tendons, ligaments and other connective tissues. Bridges of extra bone develop across joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone.  

In the US, a disease is considered rare if it is believed to affect fewer than 200,000 Americans. Currently there are 285 confirmed cases of FOP  in the United States and 800 cases world wide. 

In 1988 the International FOP Association (IFOPA) was started by one amazing person afflicted with FOP, Jeannie Peeper.  

As a young woman, Jeannie knew that there must be other people with her condition out there and wanted to be able to connect with them.  

For someone with a rare disease isolation is typical, however Jeannie persevered and started a pen pal group with the few people that she knew also had FOP.

Through Jeannie's efforts and those of numerous volunteers, today there are 500 members of the IFOPA worldwide representing over 50 countries.  

Through Jeannie's vision, today the IFOPA provides education, member support, advocacy and research funds to the FOP lab at University of Pennsylvania.  In 2006, the lab at University of Pennsylvania discovered the FOP gene  and today continues to do groundbreaking research on the quest to find a cure for FOP.

Hayden's Hope is proud to fundraise on behalf on the International FOP Association.

Please click here to read an exclusive and amazing interview with Jeannie Peeper, the founder of the IFOPA.  

Jeanie Peeper, founder of the IFOPA  and Dr. Frederick Kaplan, head of the FOP Lab

Tis the season

One of the proudest moments of being a parent is watching our children graduate, whether from kindergarten, 5th grade, 8th grade, high school, college and for some even grad school.......of course by that time you're broke and proud :)

This past week Hayden graduated from 8th grade at Mount Tamalpais School.  Three years ago, if you had told me that this lifetime milestone would happen to him, I would tell you that sadly it probably wouldn't.    However, as usual, Hayden surprised us all and is going on to high school with a big, big smile on his face.

Post Ceremonies Smile

Hayden's life has been blessed with so many wonderful people….family, peers, teachers, doctors and nurses who all care for his wellbeing and urge him forward in life.    

However, Hayden's best blessing these last three years has been his friends.  They all have been there for him unconditionally and treat him as he wants to be treated….just like a normal teenager.   These amazing kids appear at his side when we walk into an event and take charge. His oxygen tank is taken out of my hands and “Come on Hayden, we’re all over here” and off he goes to hang out with his buddies.  Every time this happens I have to hold back the tears of joy of how blessed he is to have these wonderful friends in his life.

On Graduation day, unbeknownst to me, I learned that Hayden had stubbornly talked his nurse and teachers into told his nurse and teachers that he was going to walk across the stage to get his diploma by himself and not only that, but he was going to walk down the isle at the end of graduation by himself.  Once again his friends and teachers where there to support him and make this happen for him.

                             Video of Hayden receiving his Diploma.

                                  

 

Walking from the stage with Eric Kielich, MTS teacher.

I feel like I am always saying this, but Hayden always is surprising me with his stubbornness, perseverance and determination which are his most inspiring qualities.   He continues to amaze me with how he chooses to live his life.

Congratulations Hayden on an amazing graduation….on your terms.  We are so very proud of you!

Elsa's Amazing Birthday Present to Hayden

Your children can surprise you in the most amazing ways and at the most unexpected times.  Thank you Elsa Lilli for making Hayden's birthday that much more special. Click on the link below to see Elsa's birthday present to Hayden.

Elsa's Ode to Hayden - Because I'm Happy

14 Years Ago on May 15th

14 years ago today, the most amazing person came into my life. Hayden was born at 7:30 am , the day after Mother's Day and had oddly shaped big toes.  Little did I know that just a few years later his toes would lead to a diagnosis of a very rare disease called FOP, which would not only change my life forever, but teach me to be a better person.

Hayden has taught me to laugh when time are tough, cry when they are just too tough to laugh about and live each day as it comes.  

He has taught me to persevere and to be stubborn, all in the name of living as normal a life as possible.

Hayden has showed me the value of friendships beyond what I had ever previously thought.  

But most importantly, Hayden has taught me that the most important thing in life is to be happy.  

Hayden you are an inspiration to me every day and always will be. 

I love you.  

Happy 14th Birthday!

RARE 2014

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, can be 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
and support research through family fundraisers,

Hayden Pheif, skiing in 2008, at the Far West
Disabled Sports Center in Alpine Meadows, CA

the people who spread awareness 
through outreach and advocacy.

                     

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. 

This Friday, February 28th,

is

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 

UCSF-Led Study Sheds Light on Muscle-to-Bone Transformation

Cells Used to Model Disease that Causes Abnormal Bone Growth

Researchers have developed a new way to study bone disorders and bone growth, using stem cells from patients afflicted with a rare, genetic bone disease. The approach, based on Nobel-Prize winning techniques, could illuminate the illness, in which muscles and tendons progressively turn into bone, and addresses the similar destructive process that afflicts a growing number of veterans who have suffered blast injuries — including traumatic amputations or injuries to the brain and nervous system. This insidious hardening of tissues also grips some patients following joint replacement or severe bone injuries.

The disease model, described in a new study by a UC San Francisco-led team, involves taking skin cells from patients with the bone disease, reprogramming them in a lab dish to their embryonic state, and deriving stem cells from them.

Edward Hsiao, MD, PhD

Once the team derived the stem cells, they identified a cellular mechanism that drives abnormal bone growth in the thus-far untreatable bone disease, called fibrodysplasiaossificans progressiva (FOP). Furthermore, they found that certain chemicals could slow abnormal bone growth in the stem cells, a discovery that might help guide future drug development.

Clinically, the genetic and trauma-caused conditions are very similar, with bone formation in muscle leading to pain and restricted movement, according to the leader of the new study, Edward Hsiao, MD, PhD, an endocrinologist who cares for patients with rare and unusual bone diseases at the UCSF Metabolic Bone Clinic in the Division of Endocrinology and Metabolism.

The human cell-based disease model is expected to lead to a better understanding of these disorders and other illnesses, Hsiao said.

“The new FOP model already has shed light on the disease process in FOP by showing that the mutated gene can affect different steps of bone formation,” Hsiao said. “These different stages represent potential targets for limiting or stopping the progression of the disease, and may also be useful for blocking abnormal bone formation in other conditions besides FOP. The human stem-cell lines we developed will be useful for identifying drugs that target the bone-formation process in humans."

The team’s development of, and experimentation with, the human stem-cell disease model for FOP, published in the December issue of the Orphanet Journal of Rare Diseases, is a realization of the promise of research using stem cells of the type known as induced pluripotent stem (iPS) cells, immortal cells of nearly limitless potential, derived not from embryos, but from adult tissues.

Shinya Yamanaka, MD, PhD, a UCSF professor of anatomy and a senior investigator with the UCSF-affiliated Gladstone Institutes, as well as the director of the Center for iPSCell Research and Application (CiRA) and a principal investigator at Kyoto University, shared the Nobel Prize in 2012 for discovering how to make iPS cells from skin cells using a handful of protein “factors.” These factors guide a reprogramming process that reverts the cells to an embryonic state, in which they have the potential to become virtually any type of cell.

Because injuries and surgeries can trigger rapid bone formation in FOP patients, obtaining tissue samples for extensive lab study is extremely difficult. Human iPS cells provide a unique solution by allowing the creation of the needed tissues in the lab.  Hsiao and colleagues carefully gathered skin samples from donors, and then grew the skin cells in culture before converting them into iPS cells using the methods created by Yamanaka.

In addition to providing an alternative to embryonic stem cells for potential use in regenerating diseased tissues, iPS cells are being used to learn more about diseases, especially diseases driven by mutated genes.

Unlike the skin cells from which they originated, the human iPS cells created from FOP patients show increased cartilage formation and increased bone mineralization, two critical steps that are necessary to form mature bone. Bone morphogenetic proteins (BMPs) play a central role in the bone formation within muscle. FOP results from a gene mutation that causes a defect in the receptor protein to which BMPs bind, thereby increasing bone formation.

“These cells will be a key tool for finding ways to stimulate and control human bone growth for regenerative medicine or bone repair,” Hsiao said. “The iPS cells may also help us identify treatments for more common diseases, such as atherosclerosis and vascular calcification, because the same bone morphogenetic protein pathways are involved in these medical conditions.”

The work was a joint effort between Hsiao’s lab group at UCSF; Bruce Conklin, MD, PhD, Hsiao’s former postdoctoral mentor at the UCSF-affiliated Gladstone Institutes; and a research team at Kyoto University, led by Makoto Ikeya, PhD,  and Junya Toguchida, MD, PhD. The research was supported by the National Institutes of Health, the California Institute for Regenerative Medicine, the March of Dimes, and the Ministry of Education, Culture, Sports, Science, and Technology of Japan.

UCSF is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. It includes top-ranked graduate schools of dentistry, medicine, nursing and pharmacy, a graduate division with nationally renowned programs in basic biomedical, translational and population sciences, as well as a preeminent biomedical research enterprise and two top-ranked hospitals, UCSF Medical Center and UCSF Benioff Children’s Hospital.