New from the field: specialty care for teen with rare genetic disease

New from the field: specialty care for teen with rare genetic disease
February 19, 2020 Nicole Rodriguez

We recently led a physical therapy specialty brigade in January to the Dominican Republic. Among the volunteers was Dr. Brittney Millspaugh Storms, PT, DPT, MBA, NCS, who is a professor at Indiana State University. This was her 3rd time participating on a Timmy Trip to the Dominican Republic. 


During her first trip, she practiced alongside general medical professionals on a primary care brigade where she saw various amputee patients and even began to fit one patient for a prosthetic leg. At this time, Timmy and BANELINO quickly realized the need to develop a specialty Physical Therapy brigade to address one of the most common diagnoses, low back pain and general body pain. Seeing as most of the patient population is mainly made up of banana farmers and field workers who dedicate their livelihoods to working hard in banana, rice and tobacco production, this common diagnosis makes sense.


Dr. Storms’ 2nd trip to the DR was supported by a full team of PT students, where she brought a state of the art prosthetic leg, that was completely donated and fit specifically to our patient from the year prior. The local team was hopeful to see Dr. Storms working with this patient and a PT from the local Rehab center, as she was able to coach the local PT on how to continue to provide specialized care to the amputee patient.  


This year’s brigade, Dr. Storms’ 3rd trip, we were able to coordinate with Dr. Storms to secure a wheelchair for a young Haitian boy who had been diagnosed with a rare condition called Osteogenesis Imperfecta. This condition can cause bone deformities and lead to weaker bones, which is why the condition is also known as Brittle Bone disease. Despite his condition, the 14-year-old had only been seen by a doctor twice in his life. Volunteers and local staff were able to travel and spend a morning with the patient and his family at a neighbors home where Dr. Storms worked to provide the patient with a general consultation, review of his medical history and then fitted him for the new wheelchair. Dr. Storms paired the chair with splits to fit for protection and to lower the risk of fracturing his arms or legs. 


The day was also spent educating the patient and his family about what this may mean for his future health. Staff and volunteers were encouraged to see how dedicated the patient’s family was to his health and well-being. The patient is extremely bright, loves learning and while he is not accepted in the public school system (due to conditions not being adequate for someone with a disability and the system not fully understanding his condition), he dreams of being a school teacher.  


After our primary care and specialty brigades, our MPC staff on in the field and community partners work to follow up with patients. It is crucial that we continue to be a link to patients, like this particular teen, to ensure they get the care needed within the local public health system.