If you have met one individual with Angelman syndrome you have only met one individual with Angelman syndrome
Angelman syndrome (AS) is characterised by a large set of signs and symptoms, while some symptoms are universal, one individual may have one set of secondary symptoms, another may have a completely different set. This diversity is often referred to as heterogeneity.
As parents and caregivers we can learn a lot from a large collection of data on things like; medications that work to manage seizures, sleep or behaviours well, the average age a child walked or if they walk, do different interventions work differently for those with ube3a mutation from those with a deletion? The questions that can be presented are endless however to have meaningful data we need a large and complete dataset. Each and every parent and caregiver has valuable information to add.
Your caregiver reported experiences with Angelman syndrome is hugely important to researchers and industry working hard to develop treatments for AS. Behaviours seen in a clinical setting can vary greatly from those seen at home. PREMs and PROMs are two acronyms being used a lot in the rare disease space in the last few years. Patient reported experience measures (PREMs) help others understand the impact of AS on your lives and Patient reported outcome measures (PROMs) aid in understanding what a meaningful outcome or change might be for you.
To collect this information, we need to hear from you. This project is a community collaboration to be used to improve the lives of all who have been diagnosed or are yet to be diagnosed with Angelman syndrome.