Warren A. Marks, MD, and Timothy John Feyma, MD, detail what a care team may include for a patient with AADC deficiency
Marks: In my program, we do a lot of things by multidisciplinary teams. I have a movement disorder team, I have a neuromuscular team, I have a rehabilitation team. We do a lot of things with a lot of people. At the center of the care team is always the patient and the family. But then you’ve got physicians, and it’s not just one. You may have a neurologist, you may have a physiatrist, you may have an orthopedist, you may have an endocrinologist. You may have 20 doctors out there. But that’s in addition to your physical therapist, your occupational therapist, your speech therapist, your nutritionist, your social worker, your child life worker that’s giving you support, and all the other people.
Marks: It’s not always one team. So they may have a team here and a team there, and then you’ve got to have communication between the teams, and you’ve got to have a liaison and a way to keep up with what’s going on.
Feyma: AADC deficiency is a neurologic condition, so it’s a neurologic dysfunction and because of that there’s many people who need to help out with helping these kids. I’m a neurologist so if they have seizure I’ll treat that; if they have movements I can try to lessen the movements. They may develop contractures over time and they may need an orthopedic doctor. They’ll need ongoing therapies for a long time to try to prevent some of those contractures. So they will need physical therapy, occupational therapy, and probably speech therapy. They might not feed well; so the speech therapist may help with that. They may need a surgeon to put in a g-tube. They might need a doctor—a spine doctor orthopedically to watch their scoliosis. They’ll need a PMR or rehabilitation medicine doctor to help if they can’t walk to get them a wheelchair that can get them around, and also position them so they don’t develop orthopedic deformities. They may not sleep; sometimes neurologists help with that, sometimes sleep doctors help with that. And beyond that, they tend to be very irritable, sometimes very grumpy children as well, they may need someone to help kind of calm them.