Sienna’s Story

Sienna’s Diagnosis
Sienna was diagnosed with FOP on May 30, 2012, just a month after her second birthday.  FOP is an extremely rare and debilitating medical condition where bone forms in muscles and other soft tissues of the body.  During a flare-up (characterized by large swellings), extra bone can form across the joints, restricting movement.  Sienna was born with the classic malformation of the big toe and despite seeing a team of orthopedic foot experts in Dallas since birth, she was not diagnosed until she went through several months of flare-ups starting at 20 months.

 

First Sign of Trouble
At 20 months, Sienna was napping in her crib and woke up screaming.  We rushed in to get her.  She was so upset, she started gasping and turned purple.  We called 911 because we were worried it was a breathing emergency.  By the time the EMTs arrived, she had calmed down and was breathing normally.  They checked her out and left us shaken, but reassured that Sienna was okay.  A couple of days later, a gigantic goose egg showed up on the top of her head.  We realized that she must have bumped her head during that nap.  Her pediatrician said it was impressively large, but that she was ok.  Then four days after the initial bump, her entire forehead swelled, looking like a severe allergic reaction.  We went to the ER where they performed bloodwork and a CT scan, both of which were normal.  They ruled it a cephalohematoma and sent us on our way.  Then about a week later, the perimeter of the area of swelling formed hard ridges.  Our pediatrician referred us to a craniofacial specialist who told us it was likely just dried blood from the hematoma and to apply warm compresses and gentle massage.  Within about two weeks her forehead appeared normal again and we were tremendously relieved.

Mysterious Lumps (Flare-Ups)
Two months later a large lump turned up on the right side of her neck, temporarily limiting her neck motion.  We went back to the craniofacial specialist, thinking it could be related to the initial head bump.  They sent us back to our pediatrician, who sent us to the ER where they performed blood tests (which were normal) and an ultrasound (which was inconclusive).  The next day we went to the Center for Cancer and Blood Disorders at Dallas Children’s and met with a wonderful doctor, Dr. Harker-Murray.  He examined her and ordered an MRI to get a better idea of what was going on.  He called us at home on a Saturday night to share good news – the MRI showed that it was likely not cancer.  There was fluid in her muscle, but no one had any idea why.  We were relieved that it was not cancer but still confused as to why it happened.  He referred us to several other experts in infectious diseases and hematology and Sienna had additional blood tests, all of which were normal.   In the meantime, she developed additional lumps on her back and on the left side of her neck, so they performed another MRI.  In the midst of this, we had our follow-up with the craniofacial specialist regarding the initial cephalohematoma.  He recommended an immediate biopsy.  That set off our parental instincts and just didn’t feel right.  He seemed so sure of a course of action while so many other experts had given this a great deal of thought and remained uncertain.  Our hematologist, Dr. McCavit, advised that we absolutely did not want to do a biopsy until we had seen a rheumatologist, where Sienna was ultimately diagnosed.  Thank goodness for the team at Dallas Children’s!

 

Recommendation
One thing we did throughout this process, which we highly recommend to other parents who are seeing a variety of specialists, was to make a Powerpoint presentation with a picture of her symptoms every 2 days to show the progression.  We included her blood test results and MRI write-ups, and were able to bring it to each new appointment to ensure we didn’t leave out any details.

 

Meeting Dr. Kaplan
On June 13, 2012, we met Dr. Kaplan at the University of Pennsylvania and got an update on the current state of the research and progress towards effective treatments and a cure.  He is an amazing man who clears his entire day when he meets with patients, and takes the time to answer any and all questions.  We have so much hope based on the research his team has been conducting.  There is a real possibility that clinical trials of a potentially effective treatment are just around the corner.

Through Sienna’s path to diagnosis we have met some amazing doctors who have given her a great deal of thought and attention.  We were not happy with the diagnosis but now that her condition has been identified, we can work on our path forward as a family and do whatever we can to help the team at Penn find a cure.

About Sienna
Sienna is a dynamic two-year old with a passion for flowers, swings, swimming, animals, Tex-Mex and Mott’s Applesauce Pouches.  She has a great sense of humor and has been known to spend entire doctors’ appointments making raspberry noises (which is a great help when so many of her appointments have been so serious).  She has a very high energy level and until her diagnosis we had always encouraged an active lifestyle.

We are now working on doing everything we can to protect her from trauma and illness, both of which are known triggers to the ossification process.  Sienna now wears a protective helmet. We let her decorate it herself with sparkles and a tiara.

We are encouraging safe activities such as art, reading, crafts and computers and are working on padding the potentially dangerous areas of our home.  We have also started her on an anti-inflammatory diet and anti-inflammatory supplements.

Sienna’s Treatments

What Preventive Treatments is Sienna Currently Following?

Prescription Medication:
o Celebrex (50 mg capsule 2X daily with food – we break it open and dissolve the powder in tart cherry juice as she isn’t old enough to swallow pills).
o Ketaprofen Gel (20% concentration) applied directly on a flare-up 2-3X a day.
o Singulair (4mg cherry chewable 1X daily at night)
o Gastrocrom (4X daily)

Vitamins:
o Multivitamin gummies
o Omega 3 gummies
o Probiotic gummies
o Vitamin C gummies

Anti-Inflammatory Supplements:
Curcumin (400 mg 3-4X daily, mixed with peanut butter)
o Parsley (900 mg 3X daily, mixed with peanut butter)
Tart Cherry Juice Concentrate (2 tsp daily – it is how we give her the Celebrex but it is also known for anti-inflammatory benefits)

Anti-Inflammatory Diet:
Designed with a focus on limiting sugar and emphasizing food with anti-inflammatory benefits.

Trauma-Prevention:
Sienna wears a protective helmet pretty much all the time that she is awake.

(the above treatment plan is based upon our own research and is provided solely for other FOP patients’ reference and discussion.  It is in no way endorsed by medical professionals.)

20120905-October Update

October 1, 2012

Sienna’s Friends,

Sienna’s Splash presented by McCaffrey’s is happening this Saturday at 2PM (Just 5 days away)! We have raised over $35,000 so far and are well on the way to our goal!

Sienna had fun at swim class this weekend, though this time she only wanted to “coach” a baby doll rather than do much swimming herself. We think she must be tapering for Saturday!

We have a few more exciting silent auction items to announce:

- TiMER (all-time favorite movie of ours!!!) DVD’s signed by writer and director and dear friend of Sienna, Jac Schaeffer!

- President and Mrs. Bush will donate one personalized, signed bookplate each to be inserted into a copy of their books, Decision Points and Spoken from the Heart.  Since the bookplates will be personalized, the winners will receive the books and bookplates after the event.

- $150 card making class from the Paper Source

- Delicious Gift Basket from Princeton’s Bon Appetit Fine Foods

- Fleeces from our good friends at US Rowing

We also wanted to give you an update on Sienna and a reminder about why we are raising funds. Sienna suffers from FOP (Fibrodysplasia Ossificans Progressiva), a rare genetic disorder that causes muscles and other soft tissue to progressively turn to bone. She is currently doing great and is a happy, typical 2-year-old girl who loves swimming, flowers and anything “fancy.” However,

Sienna’s FOP flare-ups have been active for several months now and she has lost some mobility in her shoulders and her neck. She currently has a large flare-up on her left shoulder blade and a small one on her belly.  Hopefully they will continue to get smaller without leaving excess bone behind.

She is looking forward to seeing all of you, but we wanted to remind everyone that as trauma (even mild bumps) and illness are known triggers for FOP flare-ups, to please be careful around her and if you are sick, please try to keep your distance. If you are well, bring on the (gentle) hugs! We greatly appreciate your help in keeping her safe and healthy until effective treatments are ready!!!

This weekend we also re-watched “Extraordinary Measures,” an inspirational story about a father who helps found the biotech company that develops effective treatments for his children’s rare genetic disease. It is such an amazing story and renews our fight each time we think of it! Effective FOP treatments are SO CLOSE!!!

We can’t wait to see you all in 5 days!

Rory, Eric and Sienna

20120905-September Update and Sienna’s Splash Reminder

September 5, 2012

Sienna’s friends,

Thank you all for your love and support this month!   A huge thanks to Cody Maple (www.codymaple.com) for designing our official logo!  Sienna loves flowers and his design is very much “Sienna,” a perfect bright and happy flower.  She loves it!   We also wanted to thank KIND Healthy Snacks (www.kindsnacks.com) for becoming our first goody bag sponsor for Sienna’s Splash Swimathon!

This weekend Sienna had her first official swim lesson (though she has been getting mommy swim lessons since she was 6 months old) and she loved it!  She is getting fired up for her swimathon and also loves practicing her Tigress roar!

[youtube=http://youtu.be/NpI-oX8_EXo]

As far as Sienna’s health, after her neck flare-up in early August she had three smaller flare-ups on her trunk.  We were very disappointed to see them, but they are quite small in comparison to her previous flare-ups and seem to continue to get smaller each day.  The recent ones don’t seem to be leaving noticeable bone growth behind, and we are praying that continues to be the case.  Last week we started her on Singulair, an additional medication thought to be complementary to Celebrex, and are pleased with the results so far.  We are hopeful that it will continue to keep any future flare-ups at bay.

In our battle to help cure FOP, we have:

  • Received almost 18,000 website views generated by over 3,800 visitors
  • Raised over $55,000 for the IFOPA to fund research for a cure!

Also, please don’t forget, Sienna’s Splash Swimathon is October 6th from 2-5pm at Princeton University’s DeNunzio Pool.

http://www.thesiennafoundation.org/category/fundraising/siennassplashswimathon/

Thank you to everyone who has signed up to swim or sponsored!   The  swimathon has raised almost $7,000 so far and the Tigress team is just $625 away from earning the right to wear flippers!   The Tigers have earned the right to wear swimsuits and goggles but don’t yet have their paddles.

We’ve had several questions, so we wanted to outline how anyone can get involved, even remotely!

  • Remote participation: Sponsor either the Tiger or Tigress team, or sponsor a specific swimmer (just pick Tiger or Tigress team based on their gender, and write the swimmer’s name in the comments section)
  • Any and all swimmers are welcome to swim (competitive, recreational or retired!)
  • Anyone and everyone is welcome to attend.  This will be a hilarious day with good fun, good food and a silent auction!  Silent auction details to come next month.

By popular demand, we have also decided that the first team to raise the team goal of $25,000 will be allowed to add floating obstacles to the opposing team’s lanes.   We had in mind inflatable toys or rubber duckies, but if you are not a swimmer and would like to get involved by being an obstacle, let us know :)

Lots of love and hope,

Rory, Eric and Sienna

20120816-Second Month Update

August 16, 2012

Title:  A Close Call, Gal Pals and Sienna’s Splash

Sienna’s Friends,
We wanted to extend a warm thank you to all of you who have touched our lives this month.  You have given us tremendous personal support and helped us raise awareness and funds by sharing our Facebook posts, making your own beautiful posts, and telling your friends about our battle to cure FOP.   As many of you regularly ask how Sienna is doing, we wanted to share our recent news.

Close Call
A couple of weeks ago we had a very scary moment when we found a flareup on the right side of Sienna’s neck and then one on the left side quickly followed.  She has been going through the endless cycle of flareups since January, but this was the first one outside of her trunk since her diagnosis in May.  We decided to administer Prednisone for the first time.   There aren’t many hard guidelines in FOP so there is always some guesswork involved.  Thankfully, it has seemed to help as the neck swellings have gone down (her neck hasn’t had full motion for a while, but we don’t think additional motion was lost) and it helped reduce a giant flareup on her right shoulder blade that had been there for weeks.  So far nothing new has come up since the course ended a week ago, so we have our fingers crossed and are praying that we can keep future flareups away until effective treatments are ready!

Gal Pals!
Rory’s college Gal Pals put together an amazing care package of individually-packaged safe crafts and games to keep Sienna happy while we discourage her from running around like a wild animal.  It is truly the most amazing thing any of us have ever seen – our friends are so caring, thoughtful, creative and organized!!  THANK YOU Gal Pals!

Additionally, this past weekend we attended the wedding of our dear friend, Aly, on the dairy farm where her groom, Paul, grew up in Wisconsin.  It was a beautiful setting and every detail of the weekend was meaningful.  We could go on and on about the wedding but will leave it to a few key updates that are of special significance to Sienna:

The Bride!  Sienna was very taken by Aly the gorgeous bride and went on and on giggling about her and her beautiful dress.  Aly gave her a white flower and Sienna has talked about it ever since!  Also, Aly organized a 5k on the morning of her wedding day and made it the Tiger Tail Trail Run for Sienna.  Only Aly would want to do a run on her wedding day, let alone use it for such a wonderful cause!  We are so humbled and honored and want to extend our heartfelt thanks to Aly, the runners and walkers, and the drivers of the “sag wagon” hayride who gave Sienna (and Rory) a lift!!

COWS!  Sienna loved meeting the cows on the farm – she spent all week picking out outfits that cows would like (cows like floral patterns, of course) and picked flowers to give the cows as presents.  She was hysterically happy to meet them and went wild when she was allowed to pet one!

[youtube=http://youtu.be/IfQ1foftqz8]

Sienna’s Splash Swimathon
We are preparing for our first fundraiser on October 6th in Princeton, NJ.  So far we have raised about $3,000, great progress!  The fundraiser is a battle of the sexes and the women’s Tigress team is crushing the men’s Tiger team so far!  They have earned the rights to wear swimsuits, goggles and paddles, while the men are still swimming in full clothes.  Help that Tiger team earn those swimsuits!  Or sign up to come watch the men struggle in their clothes!

Our friends are hilarious and super competitive, so by popular demand we are going to add a layer of competitiveness.  The first team to get to the $25,000 goal can take gear or time AWAY from the other team or add obstacles to the lanes of the opposing team.  We will be in touch again with the final details but be prepared for a fun and hilarious day!  Suggestions are welcome.  Keep helping us get the word out - the more the merrier, whether you swim, watch, or sponsor remotely!

As far as our battle to help cure FOP, in total we have:
  • Received almost 16,000 website views generated by over 3,000 visitors
  • Raised over $48,000 for the IFOPA to fund research for a cure!
Lots of love and hope,

Rory, Eric and Sienna

20120719-FirstMonthUpdate

July 19, 2012

Sienna with Flower

Sienna’s friends new and old,
We are so thankful for the outpouring of love and support that we have received for Sienna.  We have been supported in thoughtful and creative ways – ways we didn’t even know we needed to be supported!  We are so thankful for all of you, from our Texas “family” at Dr Pepper Snapple Group to our amazing family and friends across the globe.

Our past few weeks have had ups and downs.  We have been frustrated to see four new flare-up bumps show up on Sienna’s back and chest, bringing her current total to six.  Fortunately, three of them have greatly improved and are almost gone.  Sienna has remained happy through it all and has thoroughly enjoyed recent visits from her grandparents and her uncle as well as splashing in the neighborhood pool.

We watched “Extraordinary Measures,” a movie starring Harrison Ford about a family with two children suffering from a rare disease.  We won’t spoil the movie but we will say that it is truly inspiring and has a happy ending!  We highly recommend it to anyone needing a little inspiration.

As far as our battle to help cure FOP, we are proud of our first month’s progress.  We have:

  • Received almost 13,000 website views generated by over 1,800 visitors
  • Raised over $40,000 for the IFOPA to fund research for a cure!

Additionally, Sienna is going to be presented as a teaching case at Dallas Children’s Hospital later this year to help drive FOP awareness in the medical community.

We have planned a terrific first fundraiser for the fall and will be going live with it within the next two weeks.  Stay tuned for details!

Lots of love and hope,

Rory, Eric and Sienna

2012-June 29 Sienna News

June 29, 2012

Thank you to all of Sienna’s friends (new and old) for supporting us and joining our battle to cure FOP!   Sienna is having a good week, singing “Happy Birthday” to everyone regardless of their actual birthday, and has just a couple of active flare-ups remaining on her back.  We are hoping they go away soon.

Sienna On The Swings

We are proud of our first week’s statistics:

o   Approximately 10,000 page views generated by over 500 visitors across the globe: Africa, Asia, Australia, Europe, North America and South America. The only continent we have not yet reached is Antarctica.

o   Over 50 donations to the IFOPA totaling in excess of $12,500.

o   Nearly 400 Facebook “Likes”.

o   Fundraising event plans are in the works so please stay tuned for updates in the next few weeks!

o   Thank you to everyone who has donated and/or shared our site!  While the initial numbers are fantastic, we need to keep up the momentum as this marks the tip of the iceberg in what we know can be done to conquer FOP!

o   Please keep sharing and getting the word out about TheSiennaFoundation.org, we all really appreciate it!

[youtube=http://www.youtube.com/watch?v=T3eODDlkC1o]
Sienna Says: “Thank You, Friends!”