HypoPARAthyroidism Association Nonprofit patient organization working to improve lives touched by hypoparathyroidism through research, resources and education. www.hypopara.org International Bipolar Foundation Advances research toward the elimination of Bipolar Disorder, provides and enhances care, resources and support services and works to erase the stigma associated with mental illness through education. 8895 Town Centre Dr. #105-360 SD, 92122 858-764-2496 www.ibpf.org International Foundation for CDKL5 Research Information, research and support on CDKL5. www.cdkl5.com International FOXG1 Foundation Information and research for those with FOXG1. www.foxg1.org International Rett Syndrome Foundation Funds research for treatments and a cure for Rett Syndrome while enhancing the overall quality of life for those living with it by providing information, programs and services. 800-818-7388 www.rettsyndrome.org
KAT6A Foundation Family group that registers families, supports research and disseminates information related to KAT6A. www.chloekat6a.org KBG Foundation Research, information and supports for children living with KBG and their families. www.kbgfoundation.com MalaCards Integrated database of human maladies and their annotations. www.malacards.org Mended Little Hearts Education, advocacy, support for families with children with heart disease. 888-432-7899 www.mendedhearts.org Mowat-Wilson Syndrome Foundation Patient registry, research, grants and family support for those with MowatWilson Syndrome. www.mowat-wilson.org Muscular Dystrophy Association National organization dedicated to research and cure with resources for care, support and recreation. 800-572-1717 www.mda.org
International Trisomy 13/18 Alliance Information and support groups for those with Trisomy 13 or Trisomy 18. www.internationaltrisomyalliance .com
National Organization for Rare Disorders (NORD) Federation of voluntary health organizations dedicated to helping people with rare diseases and assisting the organizations that serve them. Committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service. 800-999-6673 www.rarediseases.org
Jeffrey Modell Foundation for Primary Immunodefficiency Nonprofit patient organization providing a physician finder, resources, research and advocacy for people with immune issues. www.info4pi.org
Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS) Research, information and family supports for kids with Smith-Magenis Syndrome. www.prisms.org
Phelan-McDermid Syndrome (PMS) Foundation Information, patient registry and support for people living with 22q13 Deletion Syndrome (PMS). www.pmsf.org Pitt Hopkins Research Foundation Resources, research and support for people with Pitt-Hopkins. www.pitthopkins.org Potocki-Shaffer Syndrome Information and support for those living with 11P 11.2 Deletion www.potockishaffersyndrome .org Prader-Willi Syndrome Association (PWSA) USA Family support and medical resources for those with Prader-Willi Syndrome. 800-926-4797 www.pwsausa.org Pura Syndrome Global Research Network Information and support for children with a genetic anomaly of 5Q 31.3 www.purasyndrome.org Public Health Grand Rounds (CDC) Monthly series created to foster discussion and debate and increase awareness and advocacy on major public health issues. 800-232-4636 www.cdc.gov/cdcgrandrounds/ index.htm Rare and Undiagnosed Network A group of advocates, families, and healthcare providers who work to empower rare and undiagnosed patients with genomic information and community through advocacy, networking and support. www.rareundiagnosed.org Reflex Sympathetic Dystrophy Syndrome Association (RSDSA) Information, research and coping strategies for those with RSDSA/ CRPS. 877-662-7737 www.rsds.org
SATB2gene.com Medical information and resources for people with SATB2 (Glass Syndrome). www.satb2gene.com Simons VIP Connect Online community that supports families with rare genetic variants associated with Autism and developmental delay. Provides access to resources, information and family support. www.simonsvipconnect.org Sjögren’s Syndrome Foundation Information on diagnosis, treatment, support and clinical research on Sjogren’s Syndrome www.sjogrens.org SOFT Information and support for people with Trisomy 18 or 13. www.trisomy.org STXBP1 Disorders Parent organization that provides funds for research and supports scientists and medical professionals dedicated to ending STXBP1 Epileptic Encephalopathy. www.stxdisorders.org Stickler Involved People (SIP) Support group and resource page for those with Stickler Syndrome. (Stickler’s Syndrome) 316-259-5194 www.stickler.org Tracking Rare Incidence Syndromes (TRIS) Project Seeks to increase the knowledge base on rare incidence trisomy conditions, and to make this information available to families and medical professionals. www.tris.siu.edu Turner Syndrome Society Provides resources, support and clinical care guidelines for those with Turner Syndrome. 800-365-9944 www.turnersyndrome.org Unique The rare chromosome disorder support group. www.rarechromo.org v
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