Patient and Family Education

Resources at Seattle Children's

• What to expect at your Genetic Medicine clinic visit

Conditions

Congenital disorders of glycosylation (CDG)

• CDG Care

Creatine deficiencies

• Association for Creatine Deficiencies

Fatty acid oxidation disorders

• Fatty acid oxidation disorder support group
• Long chain fatty acid oxidation disorders

Galactosemia

• Galactosemia Foundation 

Glycogen storage diseases

• Association for Glycogen Storage Disease 
• UK Association for Glycogen Storage Disease

Homocystinuria and disorders of B₁₂ metabolism

• Homocystinuria and disorders of B₁₂ metabolism

Lysosomal storage disorders

• Batten disease and the NCLs
  • Batten Disease Support & Research Association
• Fabry disease
  • Fabry Support and Information Group
• Gaucher disease
  • National Gaucher Foundation
• Mucopolysaccharidosis (MPS)
  • National MPS Society
• Pompe disease (formerly acid maltase deficiency)
  • AMDA (Acid Maltase Deficiency Association)
  • Association for Glycogen Storage Disease
  • International Pompe Association
• Tay-Sachs, Canavan, Sandhoff, GM1 gangliosidosis and related disorders
  • National Tay-Sachs & Allied Disease Association (NTSAD) 

Maple syrup urine disease (MSUD)

• MSUD Family Support Group 

Mitochondrial disease

• United Mitochondrial Disease Foundation UMDF
• Mito Action 
• Pyruvate Dehydrogenase (PDH) Complex Deficiency
  
  • Common Concerns about PDH Deficiency and Ketogenic Diets (PDF)
  • Ketogenic Diet for Pyruvate Dehydrogenase Complex Deficiency (PDF) 
  • Modified Atkins Diet (MAD) for Pyruvate Dehydrogenase Complex Deficiency (PDF)

Muscular dystrophy

• Muscular Dystrophy Association 

Organic acidemias

• Organic Acidemia Association 

Peroxisomal disorders

• Global Foundation for Peroxisomal Disorders 

Phenylketonuria (PKU)

• National PKU Alliance

Smith-Lemli-Opitz

• Smith-Lemli-Opitz RSH Foundation 

Urea cycle disorders

• National Urea Cycle Disorders Foundation
• UDC in Common
• Connecting Families UCD
• Urea cycle disorders consortium

Wilson disease

• Wilson Disease Association 

X-linked adrenoleukodystrophy (XALD)

• NORD 
• ALD Foundation 
• The Stop ALD Foundation 
• United Leukodystrophy Foundation

Tests and Procedures

• Genetic testing basics
• Insurance Coverage for Genetic Testing (PDF) (Somali) (Spanish)
• Prenatal tests 
• SNP Array: Pre-test counseling information – PE1456 (PDF) (Arabic) (Amharic) (Russian) (Simplified Chinese) (Somali) (Spanish) (Vietnamese)

Recommended Reading

• Support Groups
• Paying for Care
• Health Information Management and Medical Records Requests
• Resources for Patients and Families

Other Resources

• ClinicalTrials.gov
• Medline Plus  
• National Organization for Rare Disorders (NORD)
• Unique (Rare Chromosome Disorder Support Group)
• Healthy Children from the American Academy of Pediatrics
• Make-A-Wish
• Center for Chronic Illness
• National Society of Genetic Counselors

Newborn screening 

• Baby’s first test
• Save Babies Through Screening Foundation
• Parents' Page (Washington State Department of Health)