Erin was born in August 2005. She is the youngest of three children to Alan and Suzanne McCloskey and the younger sister of Brennan and Larkin of Woodinville, WA. She is a beautiful little girl who loves her friends, is obsessed with her American Girl doll, and is a total girly-girl.
Shortly after birth, the hospital pediatrician made note of her torticollis (stiff neck to one side), malformed big toes and “thumb in palm” syndrome in both of her hands. Immediately she began regular visits to Children’s Hospital’s orthopedic clinic. We questioned every doctor we saw…”Why did this happen?” “Why does she have these malformations?” The answer was basically that things happen.
At one month old, Erin developed a bony knot at the back of her skull. A CT scan showed a bony mass. It was monitored for a while since as her head grew, the mass would move around and changed shapes.
At four months old when Erin should be enjoying tummy time, lifting up her head, and rolling over…she was incredibly stiff. At that time physical therapy was recommended. Erin eventually learned how to roll over, sit up on her own, and walk all through physical therapy. However these milestones were significantly delayed and her balance was always off. She spent many sessions in PT just learning how to catch herself if she should tumble.
In April 2007 we all went to the Tulip Festival in Skagit Valley. During the day we noticed two little black-and-blue markings on both sides of her nose. The very next morning we woke up to Erin’s eyes completely swollen. After a trip to the emergency room and then to an allergy specialist, nothing was found to have caused the swelling.
In May 2007 Erin took a horrific fall off the couch and landed on her forehead. She was still swollen from the “allergic reaction” from the previous month. A CT-Scan showed no bone fractures but the goose-egg that had developed took months to go away.
In January 2008 she was having a session with the PT when we noticed Erin could not bend her arms to touch her shoulders. Alan took Erin to the orthopedic clinic for x-rays and there the doctors found tiny bone spurs limiting her range of motion. Erin’s hand doctor said she was right in line with “arthrogryposis.” This came to a shock to Erin’s PT because arthrogryposis is usually diagnosed at birth (at least the most extreme cases). At this point we were thinking Erin had a much milder form of arthrogryposis. Still, with arthrogryposis, PT is mandatory to keep the joints loose throughout the child’s growing years.
Late March 2008 – A soft lump developed on Erin’s right chest muscle. Alan became really concerned so we made an appointment with the pediatrician. Since Erin was 6 months old we stopped vaccinating her. Our two older boys had all their immunizations on time and both have been diagnosed with forms of high-functioning autism. Regardless if it’s genetics or immunizations, I was not about to have Erin shot up with large doses of vaccines when she was an infant. Now at 32 months, Erin was 33 lbs and over 3 feet tall (a tall girl for her age). I felt she was big enough to handle the immunizations. So Alan and Erin went off to the pediatrician who lectured Alan about vaccinating on time. He tried to explain why but this pediatrician didn’t want to hear of it. Towards the end of the visit, the pediatrician looked at the lump and said to have orthopedics look at. Erin was then promptly vaccinated for DpT, Chicken Pox, and Polio. **Sidenote: We no longer go to this pediatrician. We have a wonderful new doctor who is very much on top of Erin’s care.
May 2008 – The orthopedic surgeon (Erin’s foot doctor) at Children’s said he doubted Erin had arthrogryposis. Looking at the lump which was now a hard mass of tissue, he “fast tracked” us to Genetic Counseling. An MRI was taken and blood was drawn.
June 2008 – The MRI results are in and the prelimary diagnosis is thought to be Fibrodysplasia Ossificans Progressiva (FOP). A genetics test was taken on June 5th. The blood work was sent to Dr. Kaplan’s lab at the University of Pennsylvania Medical Center. Her medical file has been forwarded there as well.
June 24th, 2008 – Erin’s officially diagnosed with FOP. Her DNA test had the mutated ACVR1 gene found on the long arm of the second chromosome.
July – August 2008 – Erin continues to suffer from various FOP flare-ups in her neck and back. At this time a small bone spur has begun forming in her left elbow. This bone growth permanently limits her range of motion in her left arm.
2009 – Erin continues to have reoccurring FOP flare-ups in her back and shoulders. By December 2009 her back has ribbons of extra bone which has limited her range of motion in both shoulders.
June 2010 – Erin’s scoliosis is prominent. Both shoulders are turning inward and she has a slight lean to the left from all the extra bone growth in her back.
September 2010 – Erin has her wish granted with the Make-A-Wish Foundation! The entire family was flown to Orlando, FL and had a great time visiting the Disney Princesses at Disney World.
2011 – Erin begins to suffer from unexplainable stomach cramps. After many months of debilitating pain, she undergoes several procedures with a GI specialist at Seattle Children’s Hospital. All tests come back negative and we’re still trying to figure out where the pain is coming from. Through the process of elimination and a conversation with Dr. Fred Kaplan, Erin starts a regimen of Cromolyn Sodium (aka Gastrocrom). Sometimes people with FOP have an over-abundance of mast cells in their GI tract. These mast cells will flare-up. We finally get her stomach aches under control with the new medicine.
Summer 2012 – Erin has her annual evaluations at Seattle Children’s Hospital. Her geneticist notices changes in Erin’s hips. Her range of motion has started to be limited but she can still run around and act like a typical seven year old.
September 2012 – Erin starts the second grade! She is enjoying her teacher and has made new friends. She also starts complaining of pain in her right leg. Sometimes it is the hip, others there is pain in her knee. The pain hurts the worst in the evening which is expected.
October 2012 – The pain continues to get worse in her right leg. Now it is more localized to the knee. Out of the blue, Erin is unable to maneuver stairs like she used to. She was exiting the school bus one day after school and lost her balance stepping off the last step. She wiped out on the sidewalk but thankfully she was wearing her helmet. Some stairs she absolutely cannot walk up and others she needs help getting up on the first step. In our home she is swinging her right leg out to step up while going up the stairs. Going down, she “skips” since the leg won’t reach the stair. She showers in the master bath shower. It has a 3” lip that she has to step over. Erin can still clear the lip but she her movement is slow and calculated.
December 2012 – The pain in the right leg has subsided but the tummy aches have returned. She’s back on Cromolyn Sodium four times a day. Some days she’ll graze and not eat a large meal and then one day she’ll eat everything she sees. She has been using her pediatric power chair at school for over a month and her energy levels have increased. Rarely does she fall asleep on the couch at 7pm. Instead she is going to bed at 8pm wide awake. We relented and put a television in her room so she could watch a few episodes of Spongebob before falling asleep.