Timothy John Feyma, MD, Nastassja Himmelreich, PhD, Keith Hyland, PhD, and Warren A. Marks, MD, explain the importance of arriving at an accurate diagnosis of AADC deficiency early
Feyma: One of the main goals for AADC deficiency will be to make sure that we get diagnosis early and I think some of the gaps is a gap in knowledge. I think that awareness of the low tone, globally delayed young infant with oculogyric crisis should trigger someone to screen for AADC deficiency.
Himmelreich: It’s really, really, really necessary to diagnose it early because you have a chance for a better treatment in the end. So, the patient—the younger patient is growing, and you are directly involving the development. So, the patient showed a strong motor developmental delay and with a known defect and the best medication you have a good chance to improve the symptomatic of the patient.
Hyland: The disease we all know that if you—like every other disease, if the earlier you treat the better it is. So, we need to get these patients as early as possible so that treatment can be initiated.
Hyland: Once you made that diagnosis, you’re saving an awful lot then in terms of healthcare costs. Obviously, once the parents get the diagnosis, they tend to be much happier. They know what went wrong with their child and they know what the outlook is likely to be.
Marks: Early diagnosis is important even if you don’t have a specific therapy. When you have a specific therapy, then early diagnosis is obviously very critical, but even if you don’t, knowing what the diagnosis is and knowing what the prognosis is can help get the family prepared. Also, because therapies are evolving so fast, even symptomatic supportive management has become much more important because you have to keep them as healthy and neurologically intact as you can until the actual therapy comes along, especially when it seems to be right around the corner.