Erin Kathryn McCloskey was born on August 15, 2005 in Kirkland, WA. She is the youngest of three children to Alan and Suzanne McCloskey and the younger sister of Brennan and Larkin McCloskey of Woodinville, WA. She is a beautiful little girl who loves her stuffed animals, blankets, and of course the Backyardigans and Oobi.
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 diagonsed with FOP. Her DNA test had the mutated ACVR1 gene found on the long arm of the second chromosome.
Those with FOP should not have any intra-muscular injections (childhood vaccines included). As of today, no flare ups have occured in either injection site. Also, those with FOP should not get injured. Any deep muscular trauma can cause a flare up (physical therapy included). Where are we today? Alan and I are navigating our way through the grieving process the best we can. I don’t blame anyone for what has happened. We went off doctors’ recommendations and did what we thought was best for Erin. The key is education. One of our goals is to get the word out about FOP. If FOP was more well known, we may have had a diagnosis at birth.