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,
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


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.


Life can be challenging for all of us.

Any mom can tell you that.

At the end of each the day, I feel differently depending on how the day goes.

Sometimes I just fall into bed brain dead and exhausted...because I didn't sleep the night before thinking of everything I had to do today.

Sometimes I fall into bed making resolutions... I will make my life more balanced, I will do more for my children, I will be more productive at work.

Sometimes I fall into bed wondering...did I do enough today for my children. Are they going to grow up to be good people?

Sometimes I fall into bed frustrated...because I've stayed up late working on my son's project that is due the next day.

Sometimes I fall into bed feeling like a bad mother... because I've yelled at my child for not getting it all together and being organized and getting all of their school work done on time and then they cried.

Sometimes I fall into bed hoping that tomorrow will be a better day, that I'll have more patience, that I'll be a better mom.

Yesterday, the day after I had yelled at Hayden for not being organized with homework....after wondering if I was being a good mom, after resolving to do more for my children, Hayden came over to me and laid his head in my lap and said three little words that rocked my world.

"I adore you."

Nothing could have made me fell more complete. The flood of emotions over how much I love this kid who faces so many challenges every day was so intense.

Spreading Awareness

A fellow FOP'er was just listening to a Podcast and they talked about FOP. It was the Podcast "How Broken Bones Work" by Stuff You Should Know. About 31 minutes in, they talk about FOP. It was pretty good. It is great to hear people talking about it and spreading awareness.

Saturday, May 18, 2013

I am...

I am
I am a woman
I am a daughter, a sister, a wife
Most of all I am a mother

I am a mother who daily tries to figure out how to do it right
How to do it equal
How to instill values in my children
That make sense to them
That encourages them to give back
That teaches them to help it feel better, even when its not

I have a secret to share
It's hard
It's hard to have a child with special needs
I cry a lot
I smile a lot
I say I'm doing fine when I'm not
The littlest things make me sad
The littlest things make me happy

I want to change the world
Change the life of my Hayden
Give him the things he wants so badly but I can not give
I want him to be able to stand tall
Walk on his own
Breath deeply and fill his lungs with air
Raise his hands over his head
Get himself dressed
Tie his own shoes
Dance with a girl

But most of all
I want to grant him his wish
Of being able to do things on his own
By himself
With his friends
Just to hang out with out an adult watching closely

I want him to be free
That is my greatest wish

My love for him is so fierce, it hurts sometimes

My Elsa is strong
She has been through more than any 9 year old should
She is my light, my joy
She exudes happy, mischievous energy
She makes me laugh
And reminds me to be a girl
That life is normal
She is my confidant and legacy
I am beyond proud that she is my daughter

Hayden and Elsa are me

And I love them 

Wednesday, July 11, 2012

One Year Later

Isn't strange when some one says you can't have it, you want it more. Or you can't do it and your determination gets in the way and makes it happen. That's how I feel about Hayden almost every day.

Today it has been one year since he came home from UCSF PICU. Thank you to all of you amazing doctors, nurses and respiratory therapists (and you know you are) who made bringing Hayden home a reality. 
He finished 6th grade, he's made new friends and kept up with the old, he's had easy days and hard days, but in the end he is happy and that is what matters most.

Special thank you to Dr. Kitterman who was there for us every morning at 7am rounds for 4 months straight. You are an angel!  And to Nurse Adrienne who was with him from the beginning and pushed the limits so Hayden could understand why he should live.
To all of Hayden's amazing nurses and respiratory therapists,  we miss you all and are a huge reason Hayden is here today.

To Hayden's doctor's, thank you for telling us the truth and not holding back. I know that is what gave John and I our determination to see him walk out of the hospital.
Thank you to our families and friends who still give so much to us and Hayden in terms of love and support.


Hayden and John at Stinson Beach for 4th of July.
Hayden's first sleep over away from home since being
in the hospital.