Rare Disease Report

Coordinating Duke's Pompe Research and Clinic Team

APRIL 12, 2017

At Duke's Pompe disease patient clinic held on April 8, 2017, we talked with Mihaela Stefanescu and Jennifer Coker about coordinating research and clinical care so that the patient's time (and the researcher's time) during a clinic visit is efficient but not overwhelming.


My name is Mihaela Stefanescu and I coordinate our Pompe disease patients that come from out of town to the patient meeting with the different specialties at Duke, as well as any other research that they might be interested in.
We have quite a few studies that are available at Duke and we see what people are interested in participating in and get them set up with the different specialties.
We particularly encourage patients to see speech pathology, physical therapy, pulmonology to get their pulmonary function tests done. Some patients will see occupational therapy if needed but those generally are the three main ones that patients see whenever they come to our clinics.
 I'm Jennifer Coker and I'm a nurse for the Duke genetics program. For patients with Pompe disease who are coming from out of town and they want to have an evaluation with Dr Kishnani, they can get in touch with me and we can get that scheduled. There's also a number of specialists that can see patients with Pompe and we can coordinate those visits as well, including physical therapy, speech, cardiology, and pulmonary. And some of them, along with their speech therapy appointment, may need a swallow study, so we can coordinate that as well.
Out of the hundred or so guests that we have today, we coordinated about 25 patients so it can be challenging because they're all coming from out of state. They all have travel accommodations that we need to work around but the patients are usually really great at knowing that we're scheduling multiple visits and trying to fit that puzzle together so everybody can see the specialist they need to see.
Patients are usually very gracious and helpful and willing to take the appointments that we have available but again it is a puzzle that we're putting together so we try to meet the needs of the patient and schedule them on a particular day if that's what they're requesting. Also, some patients may perform better with physical therapy in the morning or in the afternoon we try to make sure that we are sensitive to that too.

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