Metabolic Disease Program Resources

Advocacy Organizations

Hunter's Hope Foundation is a non-profit organization committed to giving hope through education and awareness, research, and family care for leukodystrophies.


General Resources

DRP is a non-profit corporation designated to advance and protect the civil rights of adults and children with disabilities. Find links to helpful resources, learn about the Work Incentives Planning and Assistance program, and read about the Person-Driven Services Project.

"A comprehensive diet-management system for PKU with phe/pro/exchange and calorie values for more than 7,000 foods. Easily record, chart, and export your intake and blood levels."

Find medical information about LDSF and a host of resources, including fact sheets, school packets, medical guidelines, tracking tools 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).

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.

This resource from the Roberts Individualized Genetics Center provides a visual overview about basic genetics and explains some of genetic test technologies available.


Videos


Websites

Children’s PKU Network organization advocates for and educates families about programs available for those who have been diagnosed with phenylketonuria and other metabolic disorders.

A website to help parents of children with diastrophic dysplasia to solve the very early questions of self-care and adjustments to the home and school environments.

The National Center for Biotechnology Information (NCBI) offers reviews of medical books including FLNB-Related Disorders by Stephen Robertson, FRACP, DPhil.

The FOD Family Support Group provides support for and connects those affected by fatty oxidation disorders. Find medical information, read family stories, find answers to questions, download FOD brochures and newsletters and much more.

NCBI's GeneReviews offers detailed information about hereditary paraganglioma-pheochronocytoma syndromes, disease characteristics, diagnostic testing, treatment options and more.

This website provides information about Klippel-Feil Syndrome, including facts about the disease, resources and research.

The MSUD Family Support Group connects families affected by maple syrup urine disease.

The Myelin Project supports research that advances treatment of adrenoleukodystrophy (ALD) to reverse its effects.

The National Gaucher Foundation funds research for and provides information about programs and services available to families affected by Gaucher disease.

 The National MPS Society funds research for and publishes resources guides to help individuals coping with mucopolysaccharidoses (MPS) diseases.

The National Organization for Rare Disorders (NORD) provides advocacy, education and other services to improve the lives of all people affected by rare diseases.

The National PKU News organization provides information and resources to families affected by phenylketonuria.

The website offers families and professionals information, resources, support and advocacy assistance.

The Organic Acidemia Association funds research and provides support for individuals affected by organic acidemia metabolic disorders.

The Osteogenesis Imperfecta Foundation funds research for and supports individuals with osteogenesis imperfecta, or brittle bone disease.

This is a parent network created by parents of children with special needs to connect parents with other parents or local support groups.

The Pheo Para Troopers provides information and resources about pheochromocytoma and paraganglioma for patients and families.

The Pheochromocytoma Organization offers support and information about pheochromocytoma and related conditions.

The Arc of Pennsylvania is the largest advocacy organization in the United States for citizens with intellectual and developmental disabilities and their families. To contact the local office in Harrisburg call 717-234-2621; in Philadelphia call 215-229-4550, or visit the Arc's website to find a local chapter in your area.

Provides a supportive community and the latest and most accurate information to educate families affected by Marfan syndrome and related disorders.

The United Leukodystrophy Foundation provides families with resources to help them care for loved ones affected by Leukodystrophies.

The United Mitochondrial Disease Foundation promotes research for and education about mitochondrial disorders to those affected by them.