Mar 10, 2022
impairment and impact of Ehlers-Danlos syndrome
From a young age, Ashlynn was passionate about cheer and track. But, when she was in the sixth grade she complained more than usual about constant pain in her back and joints. Her joints would pop and move out of place frequently while participating in sports, but also in her day-to-day life.
After months of unexplained pain, she visited her primary care provider, Dr. Nancy Hesz, and she agreed that this was something that needed a specialist’s attention. She referred Ashlynn to Karl de Dios, MD, chief of genetics at Dayton Children’s Hospital.
getting a diagnosis
Through a physical exam and genetic evaluation, Dr. de Dios concluded that Ashlynn had Hypermobile Ehler-Danlos Syndrome (EDS), a connective tissue disorder that causes hypermobility or abnormal flexibility.
“Dr. de Dios was very thorough and took a lot of time explaining his diagnosis of hypermobile EDS,” said Crystal, Ashlynn’s mom. “He explained all of the lifestyle changes that should be made to keep her pain under control and joints healthy. He understood that this diagnosis was difficult on Ashlynn as she is an athlete and loves what she does.”
EDS patients are often afflicted with a wide variety of non-musculoskeletal symptoms, such as dysautonomia (i.e. positional orthostatic tachycardia, chronic fatigue, etc.), abnormal proprioception (awareness of the body in space), headaches, and gastrointestinal issues, which may lead to nutritional deficits.
For additional follow-up, Dr. de Dios referred Ashlynn to Dayton Children’s sports medicine, physical therapy as well as cardiologist Michael Ralston, MD, as some patients with EDS have issues with their heart.
“We met with Dr. Ralston and his preparedness made me feel at ease in knowing that he truly cared about my child. He took the time to make sure that we understood everything,” Crystal expressed.
Ashlynn continued to follow up with Dr Ralston after her initial visit, and each time Crystal and Ashlynn were impressed by how prepared he was for their visit.
“He always had all the information he needed related to Ashlynn’s health right in front of him to help guide treatment,” said Crystal.
Due to joint instability, EDS patients suffer from frequent joint stress and injury, leading to chronic arthralgia (joint pain), soft-tissue rheumatism (i.e.
tendonitis, bursitis, epicondylitis), and myalgia (muscle pain). Many EDS patients also suffer from frequent subluxations and dislocations. Ashlynn was very familiar with these issues.
“We have seen Anne McHugh, MD in rheumatology who has been wonderful and very attentive to Ashlynn’s needs,” said Crystal.
Dayton Children’s rheumatology division specializes in treating kids with muscle, joint & autoimmune/autoinflammatory disorders.
During Ashlynn’s freshman year of high school, four years after diagnosis, she suffered a severe shoulder injury.
Crystal scheduled Ashlynn for a visit with Lora Scott, MD, program director for sports medicine at Dayton Children’s.
Dr. Scott ordered an MRI that showed a partial dislocation that caused a tear in the cartilage of her shoulder, which indicated a surgery was likely needed.
Ashlynn was then referred to Sarah Steward, MD in orthopedics, who evaluated her and agreed she needed surgery. Dr. Steward performed Ashlynn’s surgery to repair the tear. Crystal commented, “Dr. Steward made us feel very confident that everything would be okay and that she was going to take care of our girl.”
Throughout the last five years, Ashlynn has been in physical therapy, “her therapist” as she refers to him, is John Steiner, PT. Crystal commented that John has made a huge impact on Ashlynn, “not only has he worked to improve her physical health, but he has taught her so much about her condition and how to manage it.”
John has been such an inspiration to Ashlynn that this year, she started at the Greene County Career Center in the Sports and Exercise Science Program.
“She wants to be a physical therapist! We recently visited The University of Dayton and we are very excited to see what the future holds for her!”
Dayton Children's offers a full range of primary and specialty health care services in more than 35 specialty areas. We have special training and experience needed to care for children of all ages.