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Thursday, June 26, 2014

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

Sunday, June 15, 2014

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.
video
                                  
 
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!

Friday, May 16, 2014

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.



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!

Tuesday, February 25, 2014

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 









Wednesday, January 8, 2014

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.

Thursday, September 12, 2013

Atlantic Monthly - The Girl Who Turned to Bone

The Girl Who Turned to Bone

Unexpected discoveries in the quest to cure an extraordinary skeletal condition show how medically relevant rare diseases can be.
By Carl Zimmer

Below is the article Carl Zimmer wrote that was published by The Atlantic.
On Monday, June 10th Jeannie Peeper the President and Founder of the IFOPA and Carl Zimmer were interviewed by Neal Conan on National Public Radio (NPR) Talk of the Nation to discuss The Promise In Unraveling The Mysteries Of Rare Diseases. To listen to the podcast of this interview or read the transcript please click on this link http://www.npr.org/2013/06/10/190398619/the-promise-in-unraveling-the-mysteries-of-rare-diseases
Today, June 13th 2013, the IFOPA board, members and staff are please to know changes are being made to help children and adults around the world who have a rare disease. Together we will find a cure to FOP!

This article is available online at:
If you would like to make a donation to the IFOPA to fund research to find a cure for FOP while supporting individuals and thier families through education, public awareness and advocacy please click on Donate Now.