General Resources
NORD (National Organization for Rare Disorders)
NORD is “committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.” The site includes a rare disease database with information on over 1100 rare disorders as well as listings of organizations and support groups.
Global Genes’ mission is to connect, empower, and inspire the rare disease community. Global Genes provides extensive resources for patients and advocates.
Sponsored by the National Library of Medicine, provides access to consumer information on hundreds of disorders and conditions. Includes a medical encyclopedia, dictionary, directories, news, and clinical trials.
PubMed, a service of the U.S. National Library of Medicine, is the world’s largest searchable medical database. It indexes over 15 million articles from more than 480 medical journals. Abstracts (summaries) of the articles are included and sometimes a link to the full text of the article is available. For help using PubMed, please use the PubMed Tutorial.
Information on pregnancy and newborn health defects and genetics.
Center for Parent Information and Resources serves as a central resource of information and products to the community of Parent Training Information (PTI) Centers and the Community Parent Resource Centers (CPRCs) so that they can focus their efforts on serving families of children with disabilities.
National Institute of Neurological Disorders and Stroke
NINDS is one of the more than two dozen research institutes and centers that comprise the National Institutes of Health (NIH). NINDS conducts and supports research on brain and nervous system disorders.
Information on cavernous malformations
GeneReviews: Cerebral Cavernous Malformation, Familial
A technical article focusing on the genetic aspects of cavernous malformations. This is a regularly updated scholarly publication written by Alliance to Cure Cavernous Malformation Chief Scientific Officer Dr. Amy Akers and Alliance to Cure Cavernous Malformation Scientific Advisory Board Member Dr. Leslie Morrison.
Anatomy
An interactive tour of the brain
Symptoms and Diagnosis
Clear and concise information from Epilepsy Action.
Neurologic Symptoms and Examination
From the highly regarded Merck Manual, 2nd Home Edition Online.
Computed Tomography (CT or CAT Scan) and Magnetic Resonance Imaging (MRI)
RadiologyInfo presents current and accurate patient information about head and spine CT scans, head and spine MRI, MRA, functional MRI of the brain, and other diagnostic tests. Related video clips explain the basics.
How and why the test is performed and risks involved.
Management
General information on epilepsy treatments from the Epilepsy Foundation.
An encyclopedia of prescriptions and over-the-counter medications, supplements, and herbs that can be searched by the generic or brand name of the drug.
Genetics
From the National Library of Medicine, the site presents consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
The Genetic Alliance is “an international coalition comprised of more than 600 advocacy, research, and healthcare organizations that represent millions of individuals with genetic conditions and their interests”. The site offers disease information, genetics resources, and advocacy tools.
Genes In Life is an educational website that teaches people about genetics, how genetics impacts health, and how those with genetic conditions can live their best lives. This site also delves deeper into things like diagnostic testing, insurance, and working with advocacy groups and family to improve health..
National Society of Genetic Counselors
A searchable directory of genetic counselors
Other Conditions Involving Cavernous Angioma
VHL is a genetic condition involving the abnormal growth of blood vessels in certain parts of the body. Capillaries “knot” together to form benign growths known as angiomas. These may develop in the retinas of the eyes (retinoangioma), the brain (cerebellar hemangioblastoma), or in other parts of the body.
Hereditary Hemorrhagic Telangiectasia (HHT)
Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that causes malformed blood vessels and can affect multiple organs of the body. The disorder is also sometimes referred to as Osler-Weber-Rendu (OWR) after several doctors who studied HHT in the late 1800s.
Sturge-Weber Syndrome is a congenital, non-familial disorder characterized by facial birthmark and neurological abnormalities. Excessive blood vessel growth on the surface of the brain is typically located on the back (occipital) region of the brain, often causing seizures.
CLOVES stands for Congenital Lipotamous Overgrowth with Vascular Malformations and Structural/Skeletal Abnormalities. It is an extremely rare disease.
Related Disorders and Organizations
Vascular Birthmarks Foundation
VBF provides support and informational resources for individuals affected by hemangiomas, port wine stains, and other vascular birthmarks and tumors.
A division of the American Stroke Association, ASA offers stroke education and research support.
A United Kingdom Charity run by stroke survivors for stroke survivors. It helps younger survivors optimize their recovery, take control of their lives, and regain as much independence as possible by offering rehabilitative services, information, advice, and support.
Provides information and support for brain tumor patients, family members, and healthcare professionals.
Children’s Brain Tumor Foundation
This website provides an array of information and resources to assist in accessing expert care to ensure the quality of life for the child with a brain or spinal cord tumor.
Support Groups and Referral
Ask the Doctor: The Neurology and Neurosurgery Forum at Med Help
This site allows you to post questions on a public forum and receive answers from neurologists and neurosurgeons at the Cleveland Clinic. The Cleveland Clinic is rated one of the best hospitals in the U.S. by US News and World Report and has a national reputation for quality neurosurgical care and training. The forum archives are available online and date back to 1997.
Support for spousal caregivers.
A national grassroots clearinghouse for information and education concerning the health care of children with special health needs.
Information on Healthcare Professionals and Hospitals
American Association of Neurological Surgeons
Congress of Neurological Surgeons
American Psychiatric Association
American Psychological Association
National Association of Social Workers
American Board of Medical Specialties
The ABMS, a not-for-profit organization comprising 24 medical specialty boards, is the pre-eminent entity overseeing physician certification in the United States
