Becoming a Person

One of our go-to phrases lately is “wow, she’s becoming a person!”  Obviously, Sienna has been a person her whole life, but lately she’s been seeming more like an adult, with strong opinions and a strong sense of herself.  And I hope to guide her into becoming a kind, confident and strong person.

This summer,  Sienna was adamant that she did not want to go to any camps. She wanted to stay home and “do nothing.”  No YMCA camp, no science camp, no art camp, no music lessons, nothing. I didn’t blame her,  I think the school year took a lot out of her,  having gotten sick so many times (the flu, pneumonia, 2 burst ear drums, and at least 4 colds). She was still below where we wanted her to be in weight, and we suspected that her daily medication was upsetting her tummy, so we reduced it since she’d have less interaction with other kids/ less exposure to germs.  Together we created “Camp Sienna” – we planned activities for the week each Sunday and she would do them with her au pair while I was at work: crafts,  science projects, art projects, baking, reading, gardening, and taking care of her pets  (which have grown to include 3 beta fish, 2 tadpoles and a dog).  She also did a lot of imaginative play with her stuffed puppies and little critters.  She knew exactly what she needed,  fought for it, and helped make it happen.  As a result she had a great, relaxing summer, is reading chapter books, grew two inches and added a few much needed pounds.


As the school year came near, we got all of our ducks in a row – bought all the “necessities” (new school clothes, new shoes, backpack, lunchbox) and made a doctor’s appointment for a checkup and to fill out all the paperwork needed – physical, gym exception form, immunization exception form, medication orders, extra prescriptions to keep on hand at school, etc.  We met her new teacher (who is terrific!) and did a classroom safety check together.  We were feeling pretty prepared, and the icing on the cake was that we got a call to let us know that Sienna would have her same aide again this year.  Actually, two calls.  We were so excited – Sienna’s loved her aide last year and we were excited that she is already trained in how to take care of Sienna!  We told Sienna and had a mini-celebration.  Another box checked!


But then the week before school started, her former aide let me know that she has taken a job outside of the school district.  We were panicked.  We decided not to tell Sienna until a new aide had been chosen. I barely slept for several days. In the end, we found out about the new aide the day before school started.  It turns out that two women had popped up who both wanted the job.  We told Sienna that her former aide wasn’t able to come back after all, but that there was a fight over who would get to take care of her instead.  She took it surprisingly well, and all her questions were about what exactly happened in this fight.  (We clarified that it was a friendly fight: “I can take really good care of her!”  “No, I think I can take the best care of her” “no, me!” “no, me!” and then they mutually agreed upon the winner.)  And it turns out my fear was unfounded because Sienna took to her new aide right away and has been happy as a clam in her first week at school.


As a family with an ultra-rare disease, one of the last items on the back to school checklist is to educate her classmates about F.O.P. and about the person that Sienna is beyond F.O.P.  (Fibrodysplasia Ossificans Progressiva, a condition where muscles and soft tissues progressively turn to bone, made worse by bumps and viral illnesses). We want to share how Sienna is just like them in many ways, and in how she is unique as well.  Many of you may recall preschool getting off to a rocky start when they would not let us educate her class.  But Sienna attends a terrific school where they welcome the education, and in fact before I even brought it up this year, they asked if I or the school nurse could talk to the class about F.O.P.  Since Sienna has been having such strong opinions lately, I asked her if she had a preference as to who should give the talk.  And she picked the nurse! “Because she has years of experience in my school.  You have no experience.”  Luckily her nurse is terrific, loved by the kids, and was willing to do it.  As Sienna gets older, I’m more conscious of using the talk to help her fit in with her classmates vs. stand out, so I suggested a few key bullet points including:

  • Sienna doesn’t heal as easily as everyone else, she’s “allergic to getting bumps”
  • She can do everything all of you can do except activities that could hurt her like running, monkey bars, etc.
  • She has an aide, ___, who is there to keep her safe.
  • We’d also love all of your help following the school rules to keep the class orderly and safe for everyone in the class, not just Sienna – no running, clean up toys on the floor, etc.
  • At recess she does relaxing activities like nature walks and she would welcome the opportunity to play with each of you.  She also loves animals and gardening🙂

Apparently the talk was a success.  The kids asked insightful questions, and apparently Sienna wouldn’t stop talking about her animals.  She is often shy in groups of new people, and usually does not like to talk about herself, so this was thrilling to hear!  She truly is becoming her own person! (and an advocate for animals, if not quite yet an advocate for herself)

I hope all of your school years are off to a great start as well!




Working “Vacation”

We recently returned from a full week of “vacation.”  I put “vacation” in quotes because while I successfully took a week of vacation from my actual work, we spent the week doing work for F.O.P. (Fibrodysplasia Ossificans Progressiva, a condition impacting 1 in 2 million where muscles and other soft tissues turn to bone, progressively restricting movement until older patients are essentially locked in place.)

Working Vacation Stop 1: FOP Natural History Study

Our first stop was California, to enroll Sienna in the FOP Natural History Study.  This study is being fielded by Clementia Pharmaceuticals (who is also currently fielding a drug trial for patients having active flare-ups), and Clementia has agreed to share their data with the IFOPA, which will help everyone studying F.O.P.. A Natural History study is important for researchers to understand the natural progression of the disease, and to help guide ongoing drug development in FOP.

We had been waiting for months (actually, nearly a year now!) for an east coast center to open for children, and finally just decided to visit UCSF and tie in a family visit as well (my sister and her family live outside of SF).

Here is Sienna on the trip out, flying in style!


Sienna had a great time with her California cousins and also hit a new milestone while swimming with them.  She has been able to swim short distances for a while, but her limited range of back and neck motion makes it a little tricky for her to take a breath and keep going – her bottom always sinks when she tries to get a breath.  But I knew she could get there, and finally she did!  (pictured below during the process – she launches herself off my knees and paddles as far as she can).

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Then on Monday morning, we headed into San Francisco to enroll in the study at UCSF.  In the waiting room, we had the pleasure of meeting AJ, a sweet little boy with F.O.P. from New Jersey.  We traveled cross-country to meet someone who lives just a couple of hours away!

Then we got down to business.  The study began with lots of paperwork.  The researcher kindly explained everything that they would be doing, which sent Sienna into a panic because it included a blood draw.  We had warned the researchers in advance that Sienna would have trouble with the idea of a blood draw, but that we’ve always been successful when we’ve had to get blood from her in the past.  The trick is to not give her time to stew over it, and just get it done quickly.  I suggested that they schedule it for the end of the day, but they weren’t able to make that work, and had it scheduled for mid-morning.  However, telling her that it would be coming threw off the whole morning, and she promptly shut down and refused EVERYTHING.  EKG?  NOOOOOOOO!  Urine sample? Aieeeeeeee!   Saliva sample?  Eeeeekkkkk!    Want to just try that blood draw?  NOOOOOOOOOOOOOOOOOOOOOOOO!  (meanwhile, our new friend AJ across the hall stopped by and showed off his cool band aid and complete cooperation in his study.  He even told Sienna that it didn’t hurt to try to help calm her down.  He is 5!!  I couldn’t believe it.  Amazing kid!)

One researcher was able to break her cycle of “no’s” by bringing in a toilet pan and calling it some silly name like a “pee pee hat” and sticking it on her head, which made Sienna laugh and finally be willing to try something.  By lunch, she was able to provide a urine sample, a full physical therapy evaluation, and an interview, but she never gave in on the EKG (despite myself, rare dad, and the researcher demonstrating that they are “just stickers” by sticking them on our faces and hands. Sorry, no picture of that one!) or blood sample.  Sigh.  Rare dad and I gladly gave our blood, but who knows how useful it is to them without Sienna’s.  Hopefully next time we can better set her up for success.

We broke for a much needed lunch, including this crepe:20160725_121235.jpg

And visited the hospital gift shop to buy her a bribe (this puppy):

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After lunch, she had two remaining appointments, a CT scan and a pulmonary evaluation.  The CT scan was immediately post-bribe, and the CT scan operator let Sienna run the machine on her puppy first, so that one was a huge success – turns out Sienna is much better at conducting research than participating in it!

We then had a three hour wait until the final pulmonary appointment, so we went for a walk and sat outside until we were frozen solid. (Which was probably 4 minutes. Mark Twain was right about San Francisco in summer!).  After the long wait, the pulmonary appointment was fortunately another success – and only took about 5 minutes.

After that, we checked in to the hotel and popped out for a quick dinner.  I asked Sienna if she wished she could have stayed at the hospital longer and got this reaction:


(Yes, that’s a knife.  But thankfully just a butter knife).

After dinner we took a couple of san fran-selfies and went on our way:

Unfortunately that dinner gave me food poisoning and I was sick shortly after this picture – no wonder Sienna looks so suspicious of me!

Tuesday was a full travel day, leaving SFO at 8am and landing back in NY at 5pm.  We had a night at home and then woke up early Wednesday morning to drive to Boston.

Working Vacation Stop 2: IFOPA Strategic Planning Meeting

I have been fortunate to serve on the board of the IFOPA, the 501(c)(3) non-profit dedicated to funding research, finding a cure and supporting families, for the past two years.  This week was a strategic planning meeting in Boston where a group of current and former board members gathered over two days to talk about our priorities for the next 3 years.  We had some great discussions and I really like our extended FOP family – great people, great meeting!  It is an exciting time for us with two companies fielding clinical trials and hopefully even more to come.  An official report out on the meeting will come soon from the IFOPA.

But I can write about Sienna’s experience and the non-meeting details.  The drive to Boston was fairly uneventful, just the usual 84 potty stops.

We got to the hotel in plenty of time to drop our bags off and for me to make sure Sienna got some lunch.  However, I couldn’t find a taxi so I sprinted 30 minutes to the meeting location and walked in with three minutes to spare!  A success except for the sweat that poured down my face for the first 20 minutes of the meeting.

Rare Dad took Sienna sightseeing while I was in the meeting Wednesday afternoon. After a full bus tour, when I asked her how it was, Sienna told me “I saw two cemeteries.” I think the significance of Boston history was a bit lost on her since she’s 6 and hasn’t covered any of it in school yet.


We had a nice dinner at the hotel with the rest of the team, where Sienna stayed up past her bedtime and got silly, eating extra dessert and declaring that she was still on California time.   Thursday at 5am I woke up to Sienna laughing hysterically.  I thought for sure we were in for an early wake up/ cranky Sienna, but it turned out she was laughing in her sleep.  Adorable!  And she kept sleeping until about 8am.  I had to get up for the meeting at 7 so I tiptoed into the bathroom and was out the door before she was even awake.  But while I was meeting, she enjoyed this breakfast feast in bed:


And then Sienna and Rare Dad had another good day on Thursday – I can’t share details but it involved science experiments – and we all drove home, exhausted!

That would be the end of the story, except as soon as we crossed into New York, panic hit me.  Did we pack up Martha, Sienna’s most beloved stuffed chihuahua?  After a round of “not me’s” I called the hotel and explained the situation.  Thankfully, it turned out that the housekeeping staff recognized that she was a well-loved family member and saved her, and Edward in security located her and sent her to us right away.  Thank you, Langham hotel staff!  Martha arrived home today and now it feels like our working vacation is finally complete!  (don’t mind the unpacking mess and dog bed in the background – just look at that reunion of pure joy!)

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Catching up

2015 was a busy year – I recently received an email with a review of my blog posts from 2015 and was surprised that there were only two! I’d definitely intended to post more and in fact had several half-finished posts waiting in my drafts.  So here are some highlights from the second half of our year, all at once!


By the end of summer, Sienna was going to day camp like every other kid.  Sure, this doesn’t sound that impressive to hear or even to see, as Sienna looks like a typical 5-year-old.  But Sienna has FOP (Fibrodsyplasia Ossificans Progressiva), a rare genetic disorder where muscles and soft tissue progressively turn to bone, restricting movement.  Trauma such as falls can cause flare-ups and speed up the ossification process.  Needless to say, Sienna doesn’t always get to act like every other kid and an event like going to camp doesn’t happen by just enrolling her and dropping her off.

Sienna’s road to camp started last winter when we discovered our local YMCA.  We were looking for swim lessons that could accommodate her needs and found a 1:1 swim instructor at the Y who was happy to work with us. I walked in on the day of the first lesson intending to sign Sienna up for regular lessons if it was successful. But after the lesson, meeting the warm and welcoming staff and seeing the facilities, we walked out with a full family membership.  Sienna had been enjoying her lessons on the weekends and the family swim time with me (Bonus, there is also a special needs family swim on Sunday mornings where we practically get the pool to ourselves!).  So I was excited to learn that the Y also offered summer camp programs – a new group of friends, lots of high-energy counselors, crafts, special guests, more play and swim lessons EVERY DAY!

Signing up involved the usual things all parents need to do such as the camp backpack, labeling every item, packing lunches, and then also the extra stuff we need to think about with FOP – Sienna needs a 1:1 aide with her at all times, she takes medication before lunch, and certain activities are off limits (like monkey bars and soccer). After great preparation work between me and the camp directors and a few extra forms, we were ready to go.  At the beginning of the summer, we were able to have our caregiver get cleared to attend camp with her.  But towards the end of summer we were facing a gap in care (we made it through by both taking a few vacation days, and fill-in efforts by Sienna’s grandparents and by Sienna’s beloved nanny from Texas flying out to help.)  But we really, really didn’t want to take Sienna out of camp because she was enjoying it so much.  I sent a note asking the staff if there was any chance of an extra counselor who could fill in as Sienna’s buddy during camp if we reduced her to half days for the final two weeks of summer. (Sienna tends to fatigue easily so I felt it would be better to have her come home before she was at risk of getting clumsy or cranky while with a new buddy).  I recognized that this was a HUGE ask and told them not to worry if they couldn’t help (but that I had to ask and give it a try! J ), and also offered that we’d be more than happy to pay extra for the extra attention.   I almost didn’t ask the question because it felt like such a momumental ask.  But do you know what the YMCA did?  They found a counselor that Sienna had already bonded with to be her buddy!!!!  At no extra charge. Talk about exceeding expectations!

So Sienna unexpectedly got to attend a real camp like a regular kid!  This ended up being her first experience not having the home-person also be her aide during the day, which is something I’d really been looking forward to for her development (having a nanny at school is kind of like bringing your mom to school), and a test run for Kindergarten where her aide is provided by the school district.  It was also such fun for me to get to do camp drop-off that final week.  Sienna looked so proud of herself being taken out of the car by the counselors and walked to her group, just like every other kid. Thank you, YMCA!


This fall marked the start of Kindergarten!  I started out a bit nervous.  Will Sienna’s new aide be able to keep her safe?  Will the teachers and staff be welcoming?  Will the other students understand that they shouldn’t roughhouse with her but other than that, treat her as a regular classmate?

Starting school also is not as easy as signing up and dropping off.  Our school process started in the spring with a 504 meeting made up of the school principal, psychologist, a kindergarten teacher, a social worker, her occupational therapist and a few other folks to determine her 504 plan.  A 504 plan is a plan developed to ensure a child who has a disability gets the accommodations they need to access the learning environment. I went in with my giant pile of papers and a doctor’s note, prepared to hold firm that she needs a 1:1 aide.  Luckily that was a non-issue as the committee took it as a given that she would have an aide and went beyond to discuss how to handle recess, safety in the classroom, etc.  We determined that Sienna will skip Gym class and instead have extra time in computer lab, help take care of the school turtles and fish.  At recess, her classmates also take turns accompanying her in safe activities like coloring and computer lab, which seems to be working well for everyone.

In a new situation, there is always something you don’t anticipate, and in the first week of school Sienna told me she sits on a stool in art class and that the lunchroom has picnic-style tables.  Since Sienna’s back has some fusion, if she sits in a chair without a back and loses her balance, she goes down like a tree.  So, one note back and forth with the school nurse and Sienna was able to pick out her own pink padded chair with a back and arms.  2 of them actually, one for lunch and one for art, that she will be able to use for all 6 of her years at the elementary school!

As for her acceptance and integration into the school, that was a non-issue as well.  When the school year started, the principal helped share information about Sienna to all of the parents on back to school night, Rare Dad and I said a brief couple of sentences to the parents in Sienna’s classroom, and the principal gave an abbreviated version of the FOP Classroom Talk to the entire school.  While we struggled a bit with the entry into preschool last fall, this year it was smooth sailing.  The school and parents in the community thanked us for our open-ness and I think the other students of all ages now view Sienna as their own little sister to look after.  Sienna’s school has a Halloween carnival and walking around with her was like walking around with a mini celebrity, even though she’d only been there less than two months!  The students would call out “Look, that’s Sienna!  Hi, Sienna!!!!”  Sienna can be a bit shy and would try to hide, but I can tell she does like it.  As we left the fair, there was a group of older girls gathered by the school sign, and I thought “oh no, is this a group of mean girls..” but instead they smiled and called out “Bye Sienna!!  We hope you had fun at the fair!”  Huge relief and we are so thankful to the school and to the parents for raising such caring kids.


Sienna has also thankfully bonded very well with her aide.  A few weeks into the school year at bedtime I said “Sienna, you’re my favorite person in the world!”  And Sienna replied with “Mine’s Miss Ashley”.  I wasn’t even jealous, just happy that she is happy at school!

After a smooth transition into school and the FOP worries under control, Kindergarten has been a great experience for Sienna.  Her amazing teacher has helped motivate her start to read on her own, drastically improve her writing and drawing skills, and even improve her manners!  She has even had a few playdates with new friends!  Though the school day is long (8:30-3:00 every day) so we have recently backed off from after school playdates because she was getting too tired.

FOP Research Progress:
2015 was also a banner year for progress in FOP research with a key discovery made by the Regeneron team, the enrollment of children as young as 6 in the clinical trial of Paloverotene, Vanderbilt and La Jolla Pharmaceutical Company entering into a research and licening agreement, the launch of the IFOPA patient registry, the enrollment of children in the Natural History Study, and the announcement of the winners of the IFOPA Competitive Research Grant.  Check out for the full stories!

The Holidays:

With the holidays approaching, we were all ready for a break.  Sienna’s break came earlier than expected, though.  The Tuesday before Christmas, her class had a gingerbread house decorating party.  I was surprised when she asked to leave early, came home and went directly to sleep.  We tried to wake her for dinner and discovered a 102 fever. She ran a fever for almost a full week, including Christmas day when she groggily tore through a few presents and then lay back down for a nap.  If even Christmas couldn’t rouse her, we knew it was bad!

It turned into a full week of fever – napping, lying around, watching TV, hardly touching food, and snuggling – topped off with a burst eardrum and weight loss of about 5 pounds, which she did not have to spare.  We took her in to her pediatrician first for the fever, second for the ear, and then for a check up on the ear.  We will probably have one more check in on the ear, but she is finally acting like herself again.

Side note – while it always makes us worried, sick Sienna is one of my favorite Siennas:  calm, snuggly, and sweet.  I never get to fully enjoy sick Sienna because by the time she’s well enough for me to feel calm about it, she’s back off and running!  But we did have some great snuggles and I was glad she was sick while I was home from work.

With the virus finally in retreat and the ear on the mend,  2015 did go out with a bang.  On New Years Eve some good friends stopped by for breakfast and I sliced my thumb open while cutting a bagel. I think the full week without consistent sleep, sleeping on Sienna’s floor worrying about the virus/ear caught up with me and I was distracted. When my thumb was still bleeding two hours later we decided it was time to get help. Luckily our local urgent care handles lacerations so we didn’t have to go to an ER.  And even better,  they were able to glue it shut rather than stitches!

Most importantly, 2015 was our second full year of keeping FOP flare-ups away!

Now we are all almost good as new and ready to take on 2016.  Can’t wait to see what this year has in store for us and for FOP research.  We hope that 2016 brings good health and happiness to all of you – thank you for your friendship and support!