Fragile And Determined

When Melissa’s first pregnancy ultrasound revealed she was going to have a girl, she was overjoyed. Her excitement quickly turned to worry when her obstetrician said the baby had a rare genetic condition called Osteogenesis Imperfecta (OI). Also known as brittle bone disease, OI is an inherited bone disorder in which bones fracture easily and do not form normally. Newborns can be severely affected, and it is sometimes fatal.

Melissa’s daughter, Storm, was diagnosed in utero with Type 2 OI, the most severe form of the condition which occurs in only one of every 40,000 births. Given the prognosis, Melissa fought through a roller coaster of emotion for the rest of her pregnancy. She underwent a caesarian section to minimize trauma to the baby, but Storm was born with more than ten fractures caused by her moving around in the womb.

"I knew as soon as they put the drops in her eyes that Storm would survive," Melissa said. "She was tiny, and her legs were curved in, but her heart and lungs were normal."

Within three hours of birth, Storm’s heart rate dropped, and she was transported to the Neonatal Intensive Care Unit (NICU) at St. Christopher’s. Because she was gasping for air and in distress, Storm’s doctors performed a tracheotomy and implanted a permanent breathing tube so she could breathe and a permanent feeding tube to bring nutrition directly to her stomach. The procedures went well, and her condition improved. But a week later, she developed fluid on her brain and needed two surgeries and a permanent ventriculoperitoneal (VP) shunt to relieve pressure caused by the fluid accumulation. Storm’s mom and dad visited every day, taking turns so one could stay home with their young son. 

Storm and brother


Storm’s multidisciplinary care team held meetings every morning and every night to discuss her progress and care plan along with her parents. "We were invited to those meetings, and it was helpful for us to sit in while they went over her care plan and add our input. We had some really fantastic nurses on the night shift, which helped us through a really difficult time," Melissa said.

After eight months, Storm was able to leave the NICU and go home with her family, with care overseen by Renee M. Turchi, MD, Chair, Department of Pediatrics, and Pediatrician-in-Chief at St. Christopher’s. Dr. Turchi is also the Chair of the Center for Children and Youth with Special Healthcare Needs. Since 2004, the Center has provided comprehensive primary care for children with significant medical complexity, ensuring that medical needs are met, helping integrate their care across specialties, and providing psycho-social supports for school integration, early intervention, transportation, and more.

"Before Storm was discharged, we needed to make sure the family was ready, which required what we call recreating the ICU in the living room," explained Dr. Turchi. "We held several family meetings with our home nursing team, case manager, discharge planner, and outpatient services to ensure a smooth transition and make sure her parents knew how to work all the equipment Storm would need and set up a schedule for home nurse visits."

Storm is now a happy five-year-old with her complex medical care centered at St. Christopher’s Center for Children and Youth with Special Healthcare Needs. Because there is no cure for OI, treatment aims to prevent deformities and fractures and allow Storm to function as independently as possible. Storm sees specialists from the orthopedics, otolaryngology (also known as ear, nose, and throat), gastroenterology, pulmonary, ophthalmology, endocrinology, audiology, neurosurgery, nutrition services, and dental departments. She will soon start speech and occupational therapy. 

"Dr. Turchi is fantastic. I am blessed to have her as a special needs doctor because she is a big help, and when we see her, we leave happy," Melissa said. 

"I feel like I’m being seen with my daughter. She communicates and takes the time to make us feel like we’re getting the correct information, and if there’s something I don’t know, she will break it down for me. She makes sure we have everything we need before we leave the room. The way she cares for Storm, there’s a lot to be thankful for when it comes to Dr. Turchi."

Another favorite caregiver is Iris, the community health worker. "Iris helps me a lot and is only one phone call away. If an emergency arises or I need a prescription, I can call or text, and she always responds. Having a child with disabilities is hard; I have to do everything. Iris and Dr. Turchi help me feel like I’m not so alone," Melissa said. 

Melissa appreciates the coordinated and child-friendly care Storm has received, and hospital visits sometimes feel like visiting old friends. "Everybody knows and loves Storm there. I’m thankful we can travel to one hospital and see all her doctors in one place. I am thankful that if she gets a fracture right now, I can call orthopedics, and they can see her right then or the next day. I don’t have to wait a week for her to be seen. Overall, I’m thankful for the hospital being here and understanding my daughter’s rare disease."

The road ahead may have some challenges, but Melissa is hopeful. "At the end of the day, she wasn’t supposed to make it, so this is a blessing in disguise. We still have to think about her bones every time we pick her up. But she wants to move around like any toddler, so we’re working on getting her a wheelchair. I want her to be more independent as she gets older. I’m excited to see how she does and how she gets around."

In addition to her work at St. Christopher’s, Dr. Turchi has served as Medical Director for PA Medical Home Program for the last 16 years. "St. Christopher’s is the medical home for Storm, and many children like her," Dr. Turchi explained. "Here, health professionals and families work as a team to access all medical and non-medical services necessary to help children reach their full potential, coordinating services among agencies in the child’s community and within the healthcare system. This helps improve the quality of care and provides continuity over time. A medical home like ours also fosters competence in patients and families as its key strategy to achieve positive results."