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.
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.
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!
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.
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.
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.