Patient Resources

If you would like to find out more about your or your child’s condition, or to find out if you or your child are eligible for an evaluation by one of our physicians, please peruse this website and contact us for further information, by e-mail or phone.

Please note that in order to maintain accuracy and to safeguard our resources, patients may contact us with specific questions, but should only be referred for assessment by physicians using the forms provided on the ‘information for referring physicians’ page.

Several links are provided here that are recommended on the basis of their completeness and usefulness. * The links are provided for informational purposes only. They may not be applicable to you or your child. You are strongly encouraged to discuss any questions with your or your child’s healthcare provider.

National Institutes of Health Office of Rare Diseases
Information on Glut1 Deficiency Syndrome. The Office of Rare Diseases (ORD) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH). On November 6, 2002, the President established the Office in statute (Public Law 107-280, the Rare Diseases Act of 2002). A rare disease (also called an orphan disease) is a disease or condition affecting fewer than 200,000 persons in the United States. An estimated 25 million people in the United States have a rare disease.

Geneclinics.org
Provides authoritative, professional information on genetic diseases and links to research and clinical testing laboratories. Contributions to the site are peer-reviewed. The site is maintained at the University of Washington and is funded by the National Institutes of Health. Access requires a free subscription.

Colleen Giblin Found
The site of the Colleen Giblin Foundation, established by the Giblin family for the charitable support of research and patient activities in the area of pediatric neurology and other diseases of development. The Foundation is staffed by parents and volunteers and hosts a variety of parent and patient-oriented events year-round in the New York-New Jersey area.

Spinal Muscular Atrophy Clinical Research Center
The Pediatric SMA Clinic is committed to providing comprehensive patient care, supporting research into the cause and cure for spinal muscular atrophy, educating tomorrow’s health care professionals, and reaching out to the community we serve.

Columbia Child Neurology
The home site of the Division of Pediatric Neurology at Columbia University. Includes a list of faculty and their publications and lists a large variety of patient-directed links related to pediatric neurological conditions.

Milestones For Children
Milestones for Children raises funds to support finding cures for rare pediatric diseases.

Columbia University
The site of Columbia University, the host institution of the Colleen Giblin Laboratories. The site includes a variety of useful academic and New York City resources.

New York-Presbyterian Hospital
The site of New York-Presbyterian Hospital, which represents the clinical branch of Columbia and Cornell Universities in New York City and associated institutions.

Children’s Hospital, NewYork-Presbyterian Hospital
Historically known as Babies and Children’s Hospital of New York, the pediatric medical center of New York Presbyterian Hospital at the Columbia University Medical Center, which houses the Irving Clinical Pediatric Research Center, where the study of patients with complex neurological and many other diseases of childhood is carried out.