The NPC community is engaged in a multi-stakeholder effort to add NPC to newborn screening lists across the country. Since adding NPC to these lists would mean that all newborns would routinely be screened for this rare disease, it’s essential to demonstrate that intervening earlier in a patient’s disease progression is better and critical to improved health outcomes.
Within our small patient community, one way that leading NPC experts believe will help us tell this story is to look at families with multiple affected children.
Why is that? Often these families will have a child who, following significant symptom onset, is ultimately diagnosed with NPC. This diagnosis will trigger specific NPC testing of another child of the same family who may be diagnosed before the onset of visible signs and symptoms. If we are able to describe the different diagnostic and clinical journeys of these children – based on timing of intervention – we could have powerful evidence demonstrating the benefit of screening for NPC at birth, and the criticalness of earlier intervention.
What will we need for this research? 1) We will need to identify families with multiple children affected with NPC, both those who are currently living as well as those who may have passed. 2) We will need the medical records from families in order to determine: a) how closely the course of disease is similar and b) what affect the timing of an intervention has on progression of disease.
Would you like to participate or like additional information? Please contact firstname.lastname@example.org and we can provide some more detail and discuss how you might partner with us on this important project. Thank you!