Two Years of Progress

Today, May 30th, 2014, is Sienna’s 2-year diagnose-a-versary.

Two years ago today, Rare Dad and Sienna and I sat in a room in the basement of Texas Scottish Rite Hospital and were told that our sweet Sienna has FOP (Fibrodysplasia Ossificans Progressiva), a rare condition that causes muscles and other soft tissues to turn to bone, progressively restricting movement. That day was the hardest day of my life, a day whose details are forever burned into my memory.

Each year, the anniversary brings all those memories back, but fortunately with time comes perspective. Her diagnosis was tough news for us to hear, but Sienna has always had FOP. She was born with it. In fact, she’s had it since conception. May 30th, 2012 was just the day that we as parents became aware of it. That day, we got to know her a little better, and we started to learn what we needed to do to ensure a bright future for her.

As I look back, I am so proud of everything that has been accomplished in these two years: by Sienna, by us, by our friends and families, and most importantly, by the FOP researchers at Penn and around the world.  I want to share a few highlights with all of you:

Sienna’s Highlights: She is a certified genius, gaining confidence and independence

  • On May 30th, 2012, the day she was diagnosed, Sienna potty trained herself. We got home from the hospital and were barely holding it together (ok, not holding it together at all). Sienna interrupted us, and for the first time ever, asked for and successfully used the potty. I think this was her way of telling us “Don’t worry. I’ve got this. FOP can’t stop me.”
  • We have completely bump-proofed our house so Sienna can be independent at home. She now requests privacy in her room, and when I peek in to see what she is up to in there, she’s often dancing.
  • All parents believe their kids are brilliant, but we have professional proof!  Sienna is getting ready to start preschool in the fall, and during the process to get her a classroom aide, we learned that she has “the highest IQ they have ever seen.”
  • Right now, Sienna wants to be a doctor or a veterinarian.  We will continue to do everything in our power to  make sure she achieves her dreams.

Awareness and Fundraising Highlights: Donations in honor of Sienna since May 30th, 2012 have reached over $262,900!!!

  • Sienna has the best friends in the world who have completed tremendous fundraising efforts including launching a website (thanks Uncle Robert!), a fun run (which a friend organized on her own wedding day – thanks Aly!), Sienna’s Splash Swimathon (thanks Teeter, the Princeton Women’s Swim Team, and Aunt Kerry!), a mythirtyone sale where buying cute gear supports FOP research (https://www.mythirtyone.com/NatalieOtto, thanks Aunt Natalie!), and an amazing professional ad campaign http://www.siennasflowergarden.com (thanks Natasha and Connelly Partners!)
  • Sienna was presented as a teaching case at Dallas Children’s Hospital in January 2013, raising awareness among medical professionals who will now be able to diagnose future cases of FOP sooner.
  • This spring, the Boston Marathon was run in Sienna’s honor as part of Genzyme’s Running For Rare Diseases program (and Sienna gained a new friend in her running partner, Kuber!)

Our families have done more than we could possibly list, and we are so grateful to them.

There are also several of you who have done amazing things anonymously.  Thank you!

And yes, that number above is correct:  over $262,900 raised!!

Drumroll please…. The research updates: We are entering an age of clinical trials

When Sienna was diagnosed, we learned that a team of researchers at Penn had identified the gene that causes FOP in 2006 (led by the amazing Dr. Kaplan, featured with Sienna in the picture below!) and a drug existed that had stopped the ossification process in mouse models. But there was no concrete path we knew of to turn that into an available treatment. Now, in this year’s recently released IFOPA annual report, it says IN WRITING two very important things:

  1. The first clinical trials are planned to begin fielding during 2014. That’s THIS YEAR!  See page 13 of the annual report:  “During 2013, robust work has continued on the development of an RARy agonist for use in clinical trials in FOP. One of the compounds, Paloverotene, has been through human safety trials in adults, and efforts are currently being directed towards the institution of a clinical trial in 2014 with this compound in adults with flare-ups of FOP.”
  2. Note above that it says “the first clinical trials.” Trials is PLURAL. There is more than one promising drug in development. Page 24 states: “There will likely be many clinical trials over the course of many years. As more knowledge is obtained about FOP and and better drugs and targets are identified, more clinical trials will evolve.”

With a disease as rare as FOP, it would not be surprising to have nothing in development, but thanks to a handful of dedicated researchers and a small army of fundraising families, we are entering an age of clinical trials and possibilities. We might be able to stop further ossification from happening to Sienna. FOP patients who have progressed might be able to have surgery to unlock critical joints and regain motion and independence. THIS is our future.

Two years of amazing accomplishments*. Thank you all for your help getting us to where we are today!

* Of course, FOP research thankfully began more than two years ago.  Two years ago is just when we came on the scene.  The IFOPA celebrated its 25th anniversary last year and we are forever indebted to all the researchers and families who have been working long before we started.

And finally, the IFOPA annual report also states that this is not the time to take a break from fundraising. Fundraising now is more critical than ever because there are so many efforts taking place and they are getting so close. We need to keep these researchers in business to get additional promising drugs into clinical trials and advance them to the finish line. We hope to plan a new fundraiser for the fall (ideas are welcome!), but in the meantime, as you consider your charitable donations for the year, please consider supporting FOP research at http://www.siennasflowergarden.com. All funds donated through http://www.siennasflowergarden.com go directly to the IFOPA and are restricted for research for the cure.

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Sienna, practicing her medical skills on Dr. Kaplan above during her last Penn visit.  And a few favorites from this spring below!

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