Endrochine and Metabolic Diseases Organizations
American Association of Clinical Endocrinologists
1000 Riverside Avenue, Suite 205
Jacksonville, FL 32204
Christopher Seymour, M.B.A., Executive Director
Purpose: A professional medical organization of physicians with special education, training, and interest in the practice of clinical endocrinology. Provides information and education to endocrine patients so that they can have access to the best endocrine care possible. Does not include medical advice and diagnosis.
Publications: The First Messenger (bimonthly newsletter), Endocrine Practice (bimonthly professional clinical journal), Clinical Guidelines for various endocrine conditions, and a comprehensive membership directory that supplies addresses, phone numbers, specializations, clinical interests, and board certifications of members.
American Foundation of Thyroid Patients
Purpose: A national, nonprofit organization for the awareness, education, and support of thyroid patients, their family members, health care providers, and interested parties. Support/Interest groups forming around America, low-cost public thyroid disease screenings, educational information/seminars, thyroid physican referrals.
Publications: Quarterly education newsletter with latest findings in thyroid disease, self-help information.
American Porphyria Foundation
P.O. Box 22712
Houston, TX 77227
Purpose: Provides financial support for researchers in porphyria; improves the diagnosis and treatment of porphyria through educational programs; serves as a network for porphyria patients. Also sponsors support groups, political action, seminars, and fund-raising projects.
Publications: General brochure; Diet and Nutrition in Porphyria; Porphyria Cutanea Tarda; Acute Intermittent Porphyria (AIP); Erythropoietic Protoporphyria (EEP); The Prophyrias—An Overview; Hematin; and Newsletter. These brochures are all available with membership. Bulk orders are available upon request.
American Society for Bone and Mineral Research
2025 M Street, NW., Suite 800
Washington, DC 20036
Joan Goldberg, Executive Director
Purpose: A professional organization of physicians, dentists, veterinarians, and other doctors interested in research and bone and mineral diseases. Supports clinical and basic research studies and encourages and mentors young scientists in the field of bone and mineral metabolism. There is no patient referral system except to osteoporosis or Paget's disease organizations.
Publications: Journal of Bone and Mineral Research (monthly); membership roster (biennially); newsletter (monthly).
American Society of Human Genetics
9650 Rockville Pike
Bethesda, MD 20814
Elaine Strass, Executive Director
Purpose: A professional society of physicians, researchers, genetic counselors, and others interested in human genetics. Strives to inform health professionals, legislators, health policy makers, and the general public about all aspects of human genetics.
Publications: American Journal of Human Genetics (monthly); Membership Directory (biennially); Supplement to Journal (annually); Guide to Human Genetics Training Programs in North America.
American Thyroid Association
Montefiore Medical Center
111 East 210th Street, Room 311
Bronx, NY 10467
Phone: 1–800 THYROID (849–7643)
Diane Miller, Administrator
Purpose: A professional organization of physicians and scientists dedicated to scientific research on the thyroid. The association refers the public to member physicians in their geographic area on request.
Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
Hollie Swain, President
Purpose: Acts as a forum for the discussion of glycogen storage disease (GSD), its treatment, and the problems faced by parents raising children with GSD. Disseminates medical information; fosters communication between the families of GSD patients and health care professionals. Helps obtain equipment necessary for home care of GSD patients.
Disorder: GSD is a hereditary condition characterized by a lack of or deficiency in any of the enzymes used by the body to break down glycogen. Glycogen storage diseases include von Gierke's disease, Pompe's disease, McArdle's disease, Forbes' disease, and Andersen's disease.
Publications: The Ray (periodic newsletter); Parent Handbook and other brochures.
Association for Neuro-Metabolic Disorders
5223 Brookfield Lane
Sylvania, OH 43560
Cheryl Volk, Parent Representative
Purpose: A member organization of families with children who have metabolic disorders that affect the brain. The organization provides support through personal awareness, family understanding and participation, and professional health care intervention.
Disorder: Neuro-metabolic disorders include many different, often inherited diseases such as maple syrup urine disease, galactosemia, and biotinidase deficiency. These diseases affect body chemistry, but the organ damaged is the brain.
Publications: Newsletter (3 times a year).
Cushing's Support and Research Foundation, Inc.
65 East India Row, 22B
Boston, MA 02110
Phone: 617–723–3824 or 617–723–3674
Louise L. Pace, Founder and President
Purpose: Provides information and support for patients along with expert medical advice from physicians. Facilitates correspondence between members and maintains a referral listing of hospitals, endocrinologists, and surgeons.
Cystic Fibrosis Foundation
6931 Arlington Road
Bethesda, MD 20814
Phone: 301–951–4422 or 1–800–FIGHT–CF
Robert Beall, President
Purpose: Supports medical research, professional education, and a nationwide network of care centers to benefit patients with cystic fibrosis (CF). Supports services for young adults with CF.
Publications: Information brochures.
8401 Connecticut Avenue, Suite 900
Chevy Chase, MD 20815–5817
Anthony Means, President
Scott Hunt, Executive Director
Purpose: A professional organization of scientists, educators, clinicians, practicing M.D.'s, nurses, and students representing all basic, applied, and clinical interests in endocrinology and devoted to research, study, and clinical practice of endocrinology. Works to improve understanding of endocrinology among the general public and medical practitioners and to promote the interests of endocrinologists at the national scientific research and health policy levels of government.
Publications: Journal publications include Endocrine Reviews; Endocrinology; The Journal of Clinical Endocrinology and Metabolism; and Molecular Endocrinology. Books include Molecular and Cellular Research Syllabi; Program and Abstracts Book; Recent Progress in Hormone Research Conference Proceedings; Clinical Endocrinology Update Syllabi; Remembrances in Endocrinology; and Endocrine Reviews Monograph Series. They also have a publication called Endocrine News.
Fatty Oxidation Disorders Family Support Group
805 Montrose Drive
Greensboro, NC 27410
Deb Lee Gould, Director
Purpose: To support families in the United States and abroad coping with rare genetic Fatty Oxidation Disorders (MCAD, LCHAD, LCAD, SCAD, GAII, CPT). Provide a biannual newsletter to families and interested professionals on practical coping information, family stories, and medical and pharmaceutical updates and resources. Facilitate network of families with a similar disorder.
Publications: FOD Communication Network—biannual newsletter for families and professionals.
The Genetic Alliance
(formerly the Alliance of Genetic Support Groups)
4301 Connecticut Avenue, NW., Suite 404
Washington, DC 20008–2304
Helpline: 1–800–336–GENE (4363)
Mary E. Davidson, Executive Director
Purpose: A nonprofit organization providing information on genetic support groups and genetic services to individuals and families who have genetic disorders.
Publications: Alliance brochure; "Bibliography of Material on Basic Genetics and DNA Technology for the General Public"; "Directory of National Genetic Voluntary Organizations"; "Integrating Consumers into Regional Genetics Networks"; "Informed Consent—Participation in Genetic Research Studies"; "Media Reporting in the Genetic Age"; "Starting a Support Group"; monthly newsletter.
H.E.L.P., The Institute for Body Chemistry
P.O. Box 1338
Bryn Mawr, PA 19010
Edward A. Krimmel and Patricia T. Krimmel, Co-directors
Purpose: Promotes medical/scientific research concerning the relationship between food chemistry and body chemistry specifically related to hypoglycemia. Disseminates information on body chemistry.
Hemochromatosis Foundation, Inc.
P.O. Box 8569
Albany, NY 12208
Margaret A. Krikker, M.D., President
Purpose: Seeks to increase public and professional awareness of hereditary hemochromatosis (HH) and the hazards of supplemental iron. Encourages routine use of screening tests by physicians. Assists public, patients, families, and physicians with HH diagnosis, treatment, and genetic counseling and in forming regional support networks. Provides telephone referral service to patients requesting names of physicians and research centers concerned with HH.
Disorder: Hereditary hemochromatosis is a disorder of iron metabolism in which dietary iron absorption exceeds body needs. If not diagnosed and treated, the accumulating iron may result in one or more complications such as liver enlargement, heart irregularities and failure, diabetes and other hormonal deficiencies, and arthritis.
Publications: Hemochromatosis Awareness (quarterly newsletter); information booklets and videotapes.
Human Growth Foundation
7777 Leesburg Pike, Suite 202 South
Falls Church, VA 22043
Phone: 703–883–1773 or 1–800–451–6434
Kimberly Frye, Executive Director
Purpose: A member organization of families of children with physical growth problems and interested persons united to help medical science better understand the process of growth. Distributes funds for basic and clinical growth research.
Publications: Fourth Friday (monthly newsletter); Growth Series (brochures).
Hypoglycemia Support Foundation, Inc.
3822 NW. 122nd Terrace
Sunrise, FL 33323
Roberta Ruggiero, President
Purpose: Seeks to inform, support, and encourage people with hypoglycemia about diet and hypoglycemia.
Publications: The Hypoglycemia Support Foundation Newsletter (quarterly); The Dos & Don'ts of Low Blood Sugar (book).
Iron Overload Diseases Association, Inc.
433 Westwind Drive
N. Palm Beach, FL 33408–5123
Roberta Crawford, President
Purpose: Serves and counsels hemochromatosis patients and families and offers doctor referral, as well as patient advocacy with insurance, Medicare, blood banks, and the FDA; encourages research and public information; emphasizes early diagnosis and encourages research.
Publications: Ironic Blood: Information on Iron Overload (bimonthly newsletter); Overload: An Ironic Disease (booklet); Iron Overload Alert (information brochure).
The Magic Foundation
6645 W. North Avenue
Oak Park, IL 60302
Phone: 708–383–0808 or 1–800–3 MAGIC3 (362–4423)
Mary Andrews, CEO, Co-Founder
Purpose: Provides support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes, and diseases that affect a child's growth.
Divisions: Eleven primary Divisions and Network Coordinators for additional disorders. Each division is headed by a parent whose personal child's diagnosis matches that division. These consultants offer an acutely personal focus, providing pertinent and meaningful support to the unique needs of each family within their group. Divisions include Growth Hormone Deficiency (Children and Adults), Congenital Adrenal Hyperplasia, Precocious Puberty, Russell-Silver Syndrome, Turner Syndrome, Septo Optic Dysplasia, McCune-Albright Syndrome, Panhypopituitarism, Genital and Reproductive Anomalies (Children), and other rare disorders.
Publications: Provides educational brochures covering a variety of children's growth disorders and other adult related disorders, quarterly newsletter, The MAGIC Touch, which covers all divisions for children's disorders, including medical updates, personal stories, and organization related information. Also available is The MAGIC Star, a quarterly newsletter for adults with Growth Hormone Deficiency, and a newsletter for kids, written for affected children, and a National Pen Pal program.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Jennifer Howe, Ph.D., President
Purpose: Promotes education and research on genetic and environmental causes of birth defects.
Publications: Information pamphlets.
Metabolic Information Network
P.O. Box 670847
Dallas, TX 75367–0847
Phone: 214–696–2188 or 1–800–945–2188
Susan G. Mize, Project Director
Purpose: Provides a system for sharing reported data on inborn errors of metabolism that may be useful to professionals caring for patients, to research investigators, and to patients seeking access to treatment.
Disorders: The 10 groups of disorders in MIN's working database of inborn errors of metabolism are biotin defects, galactosemias, glycogen storage diseases, hereditary tyrosine disorders, homocystinurias, hyperphenylalaninemias, maple syrup urine diseases, mucopolysaccharidoses, organic acidurias, and urea cycle disorders.
National Adrenal Diseases Foundation
505 Northern Boulevard, Suite 200
Great Neck, NY 11021
Joyce Mullen, Executive Director
Purpose: Provides a national self-help network for educational and emotional support for patients and their families.
Publications: NADF Newsletter (periodic); educational materials.
National Center for the Study of Wilson's Disease
432 West 58th Street, Suite 614
New York, NY 10091
I. Herbert Scheinberg, M.D., President
Purpose: Encourages and supports research concerning hereditary diseases of copper metabolism (Wilson's disease and Menkes' disease). Seeks to increase doctors' awareness of these diseases; and sponsors a diagnostic and treatment center for Wilson's disease.
Disorder: Wilson's disease is a genetic disorder in which excessive amounts of copper collect in the liver, brain, and kidneys. Menkes' disease is the reverse of Wilson's disease and is characterized by a defect in intestinal absorption of copper that leads to copper deficiency.
Publications: Information brochures. (See also Wilson's Disease Association).
National Graves' Disease Foundation
2 Tsitsi Court
Brevard, NC 28712
Nancy Patterson, Ph.D., Executive Director
Purpose: Provides medical information, referral, and resource information to patients; aids in the development of support groups; provides professional education through lectures and forums; and sponsors, develops, participates in, and supports research on Graves' disease.
Publications: Newsletter (quarterly); information brochures.
The National MPS Society
102 Aspen Drive
Downingtown, PA 19335
Linda K. Shine, President
Purpose: Acts as a support group for families of children with MPS (mucopolysaccharidoses) and ML (mucolipidoses); increases professional and public awareness; facilitates diagnosis and treatment through referrals to doctors and hospitals; and raises funds to further research on MPS and ML.
Disorders: MPS and ML are rare hereditary disorders caused by the body's inability to produce certain enzymes, resulting in an abnormal deposit of complex sugars in tissues and cells. This causes progressive damage that can range in severity from bone and joint involvement to massive complications in all organ systems.
Publications: Courage (quarterly newsletter); information booklets.
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812–8923
Abbey S. Meyers, Executive Director
Purpose: Acts as a clearinghouse for information about orphan diseases and as a network for families with similar disorders; encourages and promotes increased scientific research on the cause, control, and ultimate cure of rare disorders, including inherited metabolic diseases; accumulates and disseminates information about orphan drugs and devices; and educates the general public and medical profession about the existence, diagnosis, and treatment of rare disorders.
Publications: Orphan Disease Update (quarterly newsletter)
National Osteoporosis Foundation
1150 17th Street, NW., Suite 500
Washington, DC 20036–4603
Sandra C. Raymond, Executive Director
Purpose: Increases public awareness and knowledge about osteoporosis; provides information to patients and their families; educates physicians and allied health professionals; and supports basic biomedical, epidemiological, clinical, behavioral, and social research and research training.
Publications: Osteoporosis Report (quarterly newsletter); Osteoporosis: A Woman's Guide and Boning Up on Osteoporosis: A Guide to Prevention and Treatment; information brochures and other educational materials.
National Urea Cycle Disorders Foundation
4841 Hill Street
La Canada, CA 91011
Phone: 1–800–38–NUCDF (1–800–386–8233)
Cynthia LeMons (OTC disorder) and Mindy Rosen (arginase deficiency), Co-presidents
Mission: To provide guidance, information, and a support network to families and others affected; to educate medical personnel on diagnosis and treatment and legislators on the needs of affected families; to increase public awareness; to support medical research.
Disorder: A group of genetic disorders that cause enzyme deficiencies in the urea cycle, leading to excess ammonia in the blood. Brain damage and/or death may result. Urea cycle disorders include carbamyl phosphate synthetase (CPS); N-acetylglutamate synthetase (NAGS); ornithine transcarbamylase (OTC); argininosuccinic acid synthetase (ASD); argininosuccinic acid lyase (ALD); arginase (AG).
Publications: Descriptive brochure and quarterly newsletter.
Organic Acidemia Association, Inc.
Purpose: Fosters communication among parents and professionals; acts as a support group. Members include dietitians, researchers, and geneticists; clinics; parents and relatives of children with organic acidemia disorders.
Disorder: Organic acidemia is the collective name for a class of genetic metabolic disorders that lead to enzyme deficiencies and require protein-restricted diets. Organic acidemia disorders include propionic acidemia, arginino succinic aciduria, isovaleric acidemia, and methylmalonic aciduria.
Publications: Organic Acidemia Association Newsletter (quarterly).
Oxalosis and Hyperoxaluria Foundation
Mission: To inform the public, especially patients, parents, families, physicians, and medical professionals about hyperoxaluria and the related conditions, i.e., oxalosis and calcium-oxalate kidney stones; to provide a support network for those affected by hyperoxaluria; and to support and encourage research to find a cure for hyperoxaluria.
Materials: Patient Handbook (Re: Hyperoxaluria); In Touch (newsletter); web site resources.
The Paget Foundation for Paget's Disease of Bone and Related Disorders
120 Wall Street, Suite 1602
New York, NY 10005–4001
Phone: 1–800–23–PAGET or 212–509–5335
Charlene Waldman, Executive Director
Purpose: Serves patients with Paget's disease of bone, primary hyperparathyroidism, and other related disorders; and assists the medical community that treats these patients.
Publications: Newsletter (quarterly); Primary Hyperparathyroidism (patient education brochure).
The Pituitary Network Association
Purpose: Promotes early diagnosis; encourages research and pursues the cure of diseases caused by pituitary tumors; serves patients with diseases caused by pituitary tumors; and provides a telephone network of people with pituitary tumors in all age groups.
Publications: Network (quarterly newsletter); information pamphlets; The Pituitary Patient Resource Guide for pituitary patients, their families, physicians, and all health care providers.
Society for Inherited Metabolic Disorders
Oregon Health Sciences University/L473
3181 Southwest Sam Jackson Park Road
Portland, OR 97201
Dr. David Rosenblatt, President
Purpose: A professional organization working to increase knowledge of human physiology and biochemistry by investigating epidemiology, etiology, metabolism, pathogenesis, and prevention of conditions caused by inherited metabolic disorders. Promotes research collaboration, technological advances, and public understanding by providing a forum for communication among experienced investigators, advising the public directly and through existing organizations, and promoting public funding in support of these objectives.
Thyroid Foundation of America, Inc.
Ilia Stacy, Executive Director
Purpose: Provides public education programs, patient information, and support. Refers patients to qualified endocrinologists. Please send a business sized self-addressed stamped envelope.
Publications: The Bridge (quarterly newsletter); information brochures.
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
Paula Braazeal, President
Purpose: Acts as a support group for parents and families of patients with various forms of inherited leukodystrophy.
Disorder: The leukodystrophies are a group of genetically determined neurologic disorders in which progressive degeneration occurs, primarily affecting white matter. The leukodystrophies include Krabbe's leukodystrophy (globoid cell leukodystrophy or GLD), metachromatic leukodystrophy (MLD), adrenoleukodystrophy, Pelizaeus-Merzbacher disease, spongy degeneration of the brain, and Alexander's disease.
Wilson's Disease Association
4 Navaho Drive
Brookfield, CT 06804
H. Ascher Sellner, President
Purpose: Promotes and sponsors research concerning the cause, treatment, and cure of Wilson's and Menkes' diseases; stresses the importance of public awareness, early diagnosis, and treatment; provides financial aid and moral support to needy individuals and organizations sharing the association's goals; collects and disseminates information to members and the public concerning developments, current research, and legislation; and acts as a clearinghouse.
Publications: The Wilson's Disease Association publishes brochures on Wilson's disease. Serial publication: Wilson's Disease Association Newsletter, (quarterly)—tips for patients and reports about current research and legislation.
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) conducts and supports research on many of the most serious diseases affecting the public health. NIDDK conducts a broad range of basic research studies that rely on the principles and tools of genetics, chemistry, biochemistry, chemical physics, pharmacology, pathology, physiology, and molecular biology. NIDDK conducts clinical research on diabetes, other metabolic diseases such as cystic fibrosis, endocrine disorders, digestive diseases, nutrition, kidney diseases, and blood disorders.
The NIDDK's three extramural research divisions—the Division of Diabetes, Endocrinology, and Metabolic Diseases; the Division of Digestive Diseases and Nutrition; and the Division of Kidney, Urologic, and Hematologic Diseases—support basic and clinical research and research training through investigator-initiated grants, program project and center grants, and career development and research training awards.
The above information is from the National Institute of Diabetes and Digestive Kidney Diseases