FOP Awareness Day: Help Us Fight for Raina

FOP Awareness Day: Help Us Fight for Raina

Note: It's been awhile since my last blog post (this is Shannon). I should be writing more, but right now I am focusing on living in the moment, trying to not worry so much about the future with FOP (see below for why this is possible), working hard to only be online when I have to (for work and Raina fun), and hoping we are teaching Raina to do the same. Please go here to donate to the IFOPA so this worrying about the future - at least as far as FOP is concerned - can soon be a thing of the past for all FOP warriors and their loved ones. Generous donors are matching all donations dollar-for-dollar up to $30K from now until the end of April.

Thank you all so much for being a part of Raina's army. She is a warrior, for sure.  Please read on.

Thank you all so much for being a part of Raina's army. She is a warrior, for sure. Please read on.


Today, April 23, is International FOP Awareness Day.

On this day, the FOP community celebrates the anniversary of the announcement of the FOP gene discovery, ACVR1, by researchers at the University of Pennsylvania School of Medicine. See photos from the press conference and learn more about the gene discovery.

Today, as we celebrate the gene discovery, we also celebrate all that is happening in FOP research today:

  • Three active FOP clinical trials – one underway in Japan and two worldwide trials, Regeneron’s LUMINA-1 and Clementia’s MOVE trial, that are now recruiting their first patients.
  • 13 FOP drug treatments being studied by 15 different pharmaceutical companies and academic institutions as potential treatments for FOP with the latest, BioCryst pharmaceuticals, just announcing their FOP work in January 2018.
  • The IFOPA’s FOP Patient Registry with more than one-third of the known FOP patients in the world already registered.
  • Ongoing research on FOP at the University of Pennsylvania and many other academic institutions around the world that continues at full speed.
  • Four new FOP Competitive Research Grants recently awarded by the IFOPA with the highest level of funding ever to help accelerate development of safe and transformative therapies for FOP.

These advancements would not be possible without you - friends, families and warriors in our loyal FOP community.

Will you join us today as we continue to fight to #cureFOP? Here are a few ways to participate in FOP Awareness Day:

  • Make a gift to the IFOPA in April and it will be matched dollar for dollar (up to $30,000). Watch your gift fund twice the research, twice the family services, twice the awareness, twice the hope! The match is available through Monday, April 30.
  • Spread the word about FOP by posting the IFOPA's new FOP awareness video (watch below). Special thanks to Matt Horick, the Casebolts, the Scobles and, of course, Drs. Kaplan and Shore for being a part of this important video! 
  • Share FOP Facts to spread awareness on social media. IFOPA will be posting all day and you can simply share or retweet. Connect with them on Facebook, Twitter and LinkedIn.
  • Take a picture in your FOP gear and post it on Facebook, Twitter and Instagram. Don’t forget to tag the @IFOPA and use hashtag #cureFOP.  

Thank you for joining this special anniversary celebration! Please help us meet that $30K goal!

Heroes, Hope and Cupcakes

Heroes, Hope and Cupcakes

Takeaways from Boston

After speaking  at two amazing conferences this past fall (Raina and me in Boston and Raina and Mike in St. Louis) among many more hours of listening to other FOP families, researchers, clinicians and board members, we walked away with new heroes and so much more hope in our united fight for the cure.

We were blown away when we saw how everyone involved is going above and beyond to work together and do all they can to share knowledge, insights, questions and experiences in our unified battle against the devil that is FOP.

There has been so much promising knowledge gained and explored over the last year - surely more than ever before - and we learned in Boston that there are an astounding number of universities (including Harvard, Oxford, Penn, and ~25 more), pharma & biotech companies, and other research organizations that have entire TEAMS actively researching and exploring a multitude of paths towards an effective treatment.

And they are collaborating and working together so efficiently, which is astounding to see (especially for pharma). 

Here are our key takeaways:

This has all been happening at an unbelievable rate since the landmark discovery of the FOP gene in 2006 by the team highlighted here, all three of whom were present at Raina’s clinical appointment in St. Louis and at both conferences. These people are masters of their work and heroes of the entire FOP community. And they are incredibly kind, devoted and ultimately responsible for the hope we continue to speak of for Raina and everyone in this community.

boston girl 2.jpg

The rate of research, development and collaboration has increased exponentially in the last 17 months thanks to the breakthrough discovery highlighted here. Aris Economides, the hero in this story, was present and passionate at both conferences. Rumor has it that he works overtime weekly out of persistence towards the “curative FOP treatment” his team is working on, which is drug #2 below.

It only took until dinnertime at the conference in St. Louis, 2 weeks after the Boston conference when he introduced himself to her, for Raina to finally talk to him (he tried several times but has a Greek accent that threw her off). Once she gave in she clearly won his heart with a hug and a high-five. He is a parent, too, and I think his time with Raina helped to further inspire his career’s devotion (over 25 years) to beating FOP. Here’s his bio if you'd like to know more.

Aris with Sienna Otto, Raina's buddy who also has FOP

Aris with Sienna Otto, Raina's buddy who also has FOP

Which leads us to...

Drug #1: Palovarotene 

This drug is considered safe and shows potential for FOP. They just need to fine-tune dosages, how it will work acutely vs. chronically (and long-term), and a few other things to fill the FDA requirements. Clementia, the company who is pushing it to market, was formed with the primary focus of bold, efficient progress towards a solution / treatment / cure for FOP. This company is dedicated to changing the world of FOP as we know it. They are very close to getting it to market - so much so that there has even been mention of a possible surgical trial - something that is typically considered dangerous for anyone with FOP. The link above tells their story and that of Palovarotene very well.

Drug #2: The Anti-Activin A Antibody (REGN2477)

We’ve got most of our money on this one. Read about the accidental breakthrough discovery that led to the swift development of this drug here, here, here and here

There’s not much press or articles out about the antibody itself yet, but it has actually been to human trial already - in healthy human volunteers (adults with no risk, disease or pregnancy). There were no problems or safety issues found, so the first trial in FOP patients is expected to occur by mid-2017.

There has been amazing promise with the antibody in animal testing showing its effectiveness on HO (bone growth) in FOP. Paloverotene is exciting and promising, as well, but if this antibody works, it could be the “curative treatment” everyone has dreamed of…and Aris might finally be able to get some sleep.

On top of all these heroes and hope we found in Boston, we also have tear-jerking memories of cupcakes.

When Raina and I were on stage telling our story, it just happened to be her 5th birthday and did not go unnoticed. The entire conference sang Happy Birthday to her as members of the IFOPA brought her a cupcake and lit candle that she quickly blew out and enjoyed right there on stage. 

Raina was ecstatic to share her birthday with the new IFOPA executive director, her "birthday buddy" Michelle Davis, who gave her two presents at the conference. When we saw her again two weeks later at the IFOPA Midwest Gathering in St. Louis, Michelle was her "best buddy" and she looked for her everywhere we went that weekend.

There is so much more to say, and I have pages and pages of notes on a ton of studies, breakthroughs, data and questions from the Drug Development Conference. It's a lot of science that I'm happy to provide to other nerds like me upon request.

But I’ll leave you with the following two quotes that stuck with me the most after the two conferences. These words basically sum up the hope, status and promise of progress in the global battle with FOP, and we are beyond grateful that we have entered this inspiring and motivated community at a time like this:

“The first FOP Drug Development Forum (in 2014) felt like everyone was finally joining together and heading down the same path. This time it’s a sprint to the finish line.” Boston (IFOPA Research Board Member Eric Otto, whose daughter Sienna has FOP)

“Very few diseases this rare have ever received as much attention, effort or momentum as FOP. Unlike most of them, FOP has a characteristic that has become increasingly clear since the gene discovery: it’s very druggable.” St. Louis (Aris Economides) 

I’m in tears yet again over FOP. In a good way.

We Are the Lucky Ones

We Are the Lucky Ones

When I built this website two months ago, it was beyond emotional. I did all the writing over 6 hours in the middle of the night and spent the next night adding photos and editing it like crazy. It was the first time I was addressing our new normal, honestly acknowledging it as such, and accepting it to the point that I was putting it out there for our people and our world.

Writing about it was much more difficult than I had expected. But it was nothing compared to gathering and editing the pictures of our beautiful daughter and remembering what our lives were like before FOP (even though it was there all along).

Sure, we thought we had typical parenting worries; but these were nothing compared to what we are living with now. I wish I could go back in time, hit myself over the head with Raina's Elsa doll, and tell my perfectionist parent self to chill out and just enjoy being one of the lucky ones.

Raina at the Targhee Bluegrass Festival in August 2015

Raina at the Targhee Bluegrass Festival in August 2015

Those pictures were bittersweet reminders of what it was like to live carefree in Colorado, playing and climbing and hiking and running with no real worries or concerns, and it started a flood of emotions. Those years were amazing and all three of us would give anything to have just one more day of living without the knowledge of FOP and its implications.

Fortunately, Raina was diagnosed after the gene was discovered (10 years ago today!), and just 2 months after a critical discovery was made at the University of Pennsylvania research lab that gives even more hope for an effective treatment and hopefully a cure (read about it here and here).

These two milestones in research for the disease were critical beams of hope for Raina's entire tribe - and they were the primary reason we were finally able to sleep days (and weeks) later. The grief was unbearable for us. I can't imagine what the diagnosis must have done to parents and patients before 2006. 

We are so thankful for the FOP community. Words couldn't even begin to express our gratitude for their years of DEDICATION AND ACTIVISM. 

Or the love, support and strength from our family, friends, and even strangers. It's been incredibly humbling and heart-filling. You all know who you are and we are the luckiest people in the world to have you in our lives.

Or the hours of emails and calls from other parents, like Rory McCloskey Otto, of other amazing FOP children. 

Or the world expert on FOP, Dr. Fred Kaplan, who called me - while on vacation - within 5 minutes of my initial email to him about Raina's diagnosis. He texted me later that evening and offered his cell number for use anytime I had questions or just needed to talk. I try not to call him too much, but since that day (and the half day he spent with us free of charge two weeks later in Philly), he has been beyond patient and supportive.

Dr. Kaplan and Raina discussing the circus animals on his tie. January 22, 2016

Dr. Kaplan and Raina discussing the circus animals on his tie. January 22, 2016

We are very lucky compared to so many others.

While Raina has a rare disease that has devastating implications, she is still a happy and healthy girl despite the FOP.  She is much better off than the millions of other children living with terminal cancer, starvation, lack of clean water or shelter, and terrible abuse and neglect. She is surrounded by an incredible bounty of love and most of her family is less than half a day's drive from her princess bed. For these reasons and many more, we are incredibly lucky.

So the plan was to write monthly updates for those interested in how Raina and her family were doing, as many had expressed that they were but did not want to make us talk about it all the time while it was still fresh. We were still adjusting to the fact that the rest of our lives would never be the same and accepting that fact with strength and patience. It was draining.

It's been tougher than I expected to write the email newsletter and monthly updates I had planned. But I'm getting there.

We are head over heels in love with this amazingly rare, beautiful little girl and continue to embrace our gratitude for everything we have. Writing about it is getting easier by the day.

December 20, 2015, was the day Raina was diagnosed. Today is FOP Awareness Day and the 10-year anniversary of the discovery of the FOP gene. And while we were initially angry at our pediatricians, orthopedic surgeon and every other specialist we saw over the years for not being aware of the disease, we are now joining the FOP community in working hard to spread the word and increase early diagnosis and financial support for continued groundbreaking research. 

Raina Shines on the day she was diagnosed. We were a mess.

Raina Shines on the day she was diagnosed. We were a mess.

In the meantime, we continue to be grateful for our little place in the world, our four carefree years with Raina before FOP, and the many ways this amazing little girl will continue to change the world.

Rare Disease Day

Rare Disease Day

On this rarest of dates, we are observing Rare Disease Day in honor of Raina and all the people and families who are affected by unique maladies.

Though we never knew that there was a need for a day like this, we have learned that you need to bring attention to a rare problem in order to find a difficult solution.

Many people suffer from the symptoms of their rare diseases because effective treatments and cures are more difficult to develop when awareness of the disease is low. Funding for research and pressure from the general public for treatments won't happen in the same way that they do for more common conditions.

We have to take extra steps, like observing and spreading the word about Rare Disease Day, to help bring about the relief that many people desperately need. 

I would also like to share some personal thoughts about having a child with a rare disease.

For two months I have been asking a lot of "why" questions.

Why would this happen to our sweet daughter?

Why would this happen to any child?

Why do people suffer?

These difficult questions probably have no definite answers, but seeing what has happened since we discovered that Raina has FOP may provide a hint.

Our family has experienced an overwhelming outpouring of support and love from friends, family, and people we don't even know.

It has brought people together and created ripples of positive thoughts and actions that may not have happened otherwise. Maybe it took these terrible circumstances for the true nature of our support group to be shown and felt. Maybe people see a terrible negative happening and decide to combat that with amazing positives.

Maybe people find their better selves through personal tragedies. 

If this is true then Raina and many others are sacrificing for the greater good of humanity.

We must support these people in order to lessen their burden, but we must also do our part to complete their sacrifice. Enjoy your good health, spend time with loved ones, help people in need, do what makes you happy and don't take for granted what others can never have.

Raina has always been rare and special, and FOP only confirms that she has a unique path in this life. Her rare condition will not define who she is but will only serve her in creating joy and happiness in others.

If you know her, you know exactly what I mean.

Please help her make the world better by becoming your best self.

It'll be alright

It'll be alright

Where there's hope, there's life.
It fills us with fresh courage and makes us strong again.

ANNE FRANK


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We miss Colorado so much it hurts, but we left just in time. Raina is home with her tribe.