There may be more to the diagnosis

Children experiencing a complex mix of symptoms including seizures and developmental delays may have an underlying genetic condition. Download our whitepaper to find out who may be missing a genetic diagnosis.

"Considering the claims data showing an average age at diagnosis of 7.2 years, some might consider Madden's journey a 'success', but his family wished for an earlier diagnosis."

Despite rapid improvements in genetic testing technology and an expanding knowledge base for variant classification, over half of patients with rare epilepsies have not been diagnosed. Get help finding the patients you may be missing.

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Disclaimer

Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.