| Resources for Children with Disabilities Developed by Margaret Rose Genetic Syndromes and Inborn Errors of Metabolism There are many support organizations and networks for children with various syndromes and inborn errors of metabolism and their families. A representative sample is listed here. For a more complete listing, contact the National Organization for Rare Disorders (NORD).  The American Society of Human Genetics 9650 Rockville Pike Bethesda, MD 20814-3998 Phone: 866-486-4363 Fax: 301-530-7079 Organization for professionals specializing in human genetics. Publishes The American Journal of Human Genetics and other resources. Arnold-Chiari Family Network c/o Kevin and Maureen Walsh 67 Spring Street Weymouth, MA 02188 Phone: 617-337-2368 Informal family support network for individuals with Chiari I and Chiari II malformations and their families. Literature and occasional newsletter provided on request. Avenues Post Office Box 5192 Sonora, CA 95370 Phone: 209-928-3688 E-mail: avenues@sonnet.com Publishes a semiannual newsletter that provides lists of parents, physicians, and experienced medical centers that are concerned with people with arthrogryposis multiplex congenita. Cornelia de Lange Syndrome Foundation, Inc. 302 West Main Street, #100 Avon, CT 06001 Phone: 800-223-8355 Fax: 860-676-8337 E-mail: info@cdlsusa.org Supports parents and children affected by de Lange syndrome, encourages research, and disseminates information to increase public awareness through a newsletter and informational pamphlet. 5p– Society Post Office Box 268 Lakewood, CA 90714 Phone: 888-970-0777 Fax: 714-890-9112 E-mail: fivepminus@aol.com Family support and information group for parents, grandparents, and guardians of individuals with 5p– (cri-du-chat) syndrome. Publishes a newsletter and sponsors an annual meeting. GeneTests•GeneClinics Phone: 206-527-5742 (GeneTests); 206-221-4674 (GeneClinics) E-mail: geneclinics@geneclinics.org; genetests@genetests.org Free medical genetics information resource developed for physicians, other health care providers, researchers, and the public. Provides GeneReviews, peer-reviewed articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients; international directories for genetic testing laboratories and genetic and prenatal diagnosis clinics; and various educational materials. Genetic Alliance, Inc. 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2304 Phone: 800-336-4363 Fax: 202-966-8553 E-mail: info@geneticalliance.org International organization of families, health professionals, and genetic organizations dedicated to enhancing the lives of individuals living with genetic conditions through the provision of education, policy, and information services. Helpline staff are available to address questions about genetics and to connect callers with support groups and informational resources. Genetics Society of America 9650 Rockville Pike Bethesda, MD 20814-3998 Phone: 866-486-4363 Fax: 301-530-7079 Professional organization that aims to bring together genetic investigators and provide a forum for sharing research findings. Cooperates in the organization of an international congress held every five years under the auspices of the International Genetics Federation. Publishes the journal GENETICS and other resources. Howard University Center for Sickle Cell Disease 2121 Georgia Avenue NW Washington, DC 20059 Phone: 202-806-7930 Fax: 202-806-4517 Screening and counseling for sickle cell disease; provides services to both adults and children, including medical treatment and psychosocial intervention. Little People of America, Inc. Post Office Box 745 Lubbock, TX 79408 Phone: 888-572-2001 (English and Spanish helpline) E-mail: LPADataBase@juno.com Nationwide organization dedicated to helping people of short stature. Provides fellowship, moral support, and information to “little people,” or individuals with dwarfism. The toll-free helpline provides information on organizations, products and services, and doctors in the caller’s area. National Gaucher Foundation 5410 Edson Lane Suite 260 Rockville, MD 20852 Phone: 800-428-2437 Fax: 301-816-1516 E-mail: ngf@gaucherdisease.org Publishes quarterly newsletter, operates support groups and chapters, provides referrals to organizations for appropriate services, and funds research on Gaucher disease. The National Neurofibromatosis Foundation, Inc. 95 Pine Street 16th Floor New York, NY 10005 Phone: 800-323-7938 Fax: 212-747-0004 E-mail: NNFF@nf.org Supplies information to lay people and professionals and offers genetic counseling and support groups throughout the United States. National Organization for Rare Disorders (NORD) Post Office Box 8923 New Fairfield, CT 06812-8923 Phone: 203-746-6518 Fax: 203-746-6481 E-mail: orphan@rarediseases.org Nonprofit group of voluntary health organizations serving people with rare disorders and disabilities. Dedicated to the identification, treatment, and cure of rare disorders through education, advocacy, research, and service. National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Brighton, MA, 02135 Phone: 800-906-8723 Fax: 617-277-0134 E-mail: NTSAD-boston@worldnet.att.net Promotes genetic screening programs nationally; has updated listing of Tay-Sachs disease prevention centers in a number of countries; provides educational literature to general public and professionals; and coordinates a peer group support for parents. National Urea Cycle Disorders Foundation 4841 Hill Street La Cañada, CA 91011 E-mail: info@nucdf.org Provides information and support for families. Supports and stimulates medical research and increased awareness by the public and the legislators of issues related to urea cycle disorders. Online Mendelian Inheritance in Man (OMIM) Web site database of human genes and genetic disorders with textual information, pictures, and reference information. Osteogenesis Imperfecta Foundation, Inc. 804 West Diamond Avenue Suite 210 Gaithersburg, MD 20878 Phone: 800-981-2663 Fax: 301-947-0456 E-mail: bonelink@oif.org Supports research on osteogenesis imperfecta and provides information to those with this disorder, their families, and other interested people. Prader-Willi Syndrome Association 5700 Midnight Pass Road Sarasota, FL 34242 Phone: 800-926-4797 Fax: 941-312-0142 E-mail: national@pwsausa.org National organization that serves as a clearinghouse for information on Prader-Willi syndrome; shares information with parents, professionals, and other interested people. Sickle Cell Disease Association of America, Inc. 200 Corporate Pointe Suite 495 Culver City, CA 90230-8727 Phone: 800-421-8453 Fax: 310-215-3722 E-mail: scdaa@sicklecelldisease.org Provides education, screening, genetic counseling, technical assistance, tutorial services, vocational rehabilitation, and research support in the United States and Canada. Support Organization for Trisomy 18, 13, and Related Disorders (SOFT) 2982 South Union Street Rochester, NY 14624 Phone: 800-716-7638 (English); 631-226-3986 (Spanish) E-mail: barbsoft@aol.com Chapters in most states provide support and family packages with a newsletter and appropriate literature underscoring the common problems for children with trisomy 13 or trisomy 18. Holds yearly conference for families and professionals. Tourette Syndrome Association 42-40 Bell Boulevard Bayside, NY 11361 Phone: 718-224-2999 Fax: 718-279-9596 E-mail: ts@tsa-usa.org Offers information, referral, advocacy, education, research, and self-help groups to those affected by Tourette syndrome. Treacher Collins Foundation Post Office Box 683 Norwich, VT 05055 E-mail: geomrf@hotmail.com Resource and referral for families, individuals, and professionals who are interested in developing and sharing knowledge and experience about Treacher Collins syndrome and related disorders. Publishes newsletter and makes print and videotape resources available by loan. Tuberous Sclerosis Alliance 801 Roeder Road Suite 750 Silver Spring, MD 20910 Phone: 800-225-6872 Fax: 301-562-9870 E-mail: info@tsalliance.org Offers public information about manifestations of the disease to newly diagnosed individuals, their families, and interested professionals. Referrals are made to support groups located in most states. Funds research through membership fees and donations. |
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