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MACPAD is a network of individuals and families touched by phenylketonuria and allied disorders. Their website provides educational resources, newborn screening information, support groups, upcoming events and more.
The NPKUA provides information and support to adults and families affected by phenylketonuria, advocates for the reimbursement of medical foods, and invests in targeted and peer-reviewed research. Find helpful resources, educational information, news and events, and how you can take get involved.
Provides enrollment services for applicants who are aging or with physical disabilities applying for Aging, Attendant Care, COMMCARE, Independence, and the OBRA Waivers or the Act 150 Attendant Care Program.
A non-profit organization supporting collaborative research and education initiatives, awareness campaigns, advocacy, community-building, and care for people with hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS).
This resource from the Roberts Individualized Genetics Center provides a visual overview about basic genetics and explains some of genetic test technologies available.
This tool provides information to help families and practitioners learn more about mitochondrial disease.
The "privacy assured" registry helps collect information that will assist in diagnosing and treating mitochondrial disease.
Philadelphia Department of Behavioral Health and Intellectual disAbility Services provides resources to help children and families access the support they need during a behavioral health crisis. Review this notice for information.
This resource from the Roberts Individualized Genetics Center explains how people with mitochondrial disease carry a mutation in a gene that affects the way their mitochondria work.
When you're preparing to send a child with hyperinsulinism to school, these are some important steps you should take to make the process easier for everyone.