Metabolic Disease Program Resources

http://www.huntershope.org

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

http://disabilityrightspa.org/

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.

https://howmuchphe.org/

"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."

http://www.loeysdietz.org

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

https://npkua.org/

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.

https://www.dhs.pa.gov/Services/Disabilities-Aging/Pages/Independent-Enrollment-Broker.aspx

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.

https://www.ehlers-danlos.com/

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).

http://www.macpad.org/home

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.

http://imgc.chop.edu/what-is-genetics/

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

In this video, experts from Children’s Hospital of Philadelphia explain why highly specialized, comprehensive care is so important for children with Beckwith-Wiedemann syndrome.

http://www.pkunetwork.org/Childrens_PKU_Network/Home.html

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.

https://www.curemito.org/

The Cure Mito Foundation was founded in 2018 with the primary focus to advance research towards a cure for Leigh syndrome and eventually for mitochondrial disease as a whole.

http://pixelscapes.com/ddhelp/

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.

http://www.ncbi.nlm.nih.gov/books/NBK2534/

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

http://fodsupport.org

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.

http://www.ncbi.nlm.nih.gov/books/NBK1548/

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

http://kfsalliance.org/

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

https://www.metabolicsupportuk.org/

The Metabolic Support UK organization funds research and provides information to families affected by metabolic disorders.

http://www.msud-support.org/

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

http://www.myelin.org/

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

http://endocrine.niddk.nih.gov

This website provides information about endocrine and metabolic diseases, statistics, research, resources, publications and more.

http://www.gaucherdisease.org/

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

http://www.mpssociety.org

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

http://www.rarediseases.org/

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

http://www.pkunews.org/

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

http://www.nucdf.org/

The National Urea Cycle Disorders Foundation provides information and resources to those affected by urea cycle disorder (UCD).

http://www.spanadvocacy.org/index.php

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

http://www.oaanews.org/

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

http://www.oif.org

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

http://www.parenttoparent.org

This network empowers and supports parents across Pennsylvania by connecting them with families of children & adults with special needs or disabilities who’ve had similar journeys.

http://www.pheoparatroopers.org/

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

http://thearcpa.org

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.

http://www.marfan.org/

The Marfan Foundation is a nonprofit organization that saves and improves lives while creating a community for all individuals with genetic aortic and vascular conditions, including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.

http://www.nnpdf.org/

The National Niemann-Pick Disease Foundation supports research to find treatments for individuals affected by Niemann-Pick Disease (NPD).

http://ulf.org/

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

http://www.umdf.org

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