Updated Articles and Resources

From Mary Kugler, R.N., Former About.com Guide since 2000

Familial Dysautonomia Created: Friday, November 23, 2007 Updated: Wednesday, April 10, 2013
Information about familial dysautonomia, an inherited nervous system disorder in Ashkenazi Jewish people, including its symptoms, diagnosis, and treatment.
Gaucher Disease Created: Friday, February 27, 2009 Updated: Thursday, March 28, 2013
Information about Gaucher diseases, its differents types, its symptoms, diagnosis, and treatment.
Jewish Genetic Testing for Rare Disorders Created: Thursday, June 15, 2006 Updated: Monday, March 25, 2013
Article describes genetic testing of Ashkenazi Jews by Dor Yeshorim and Jewish family service organizations, including the history of the programs and the issues involved.
Kennedy Disease Created: Saturday, July 24, 2004 Updated: Friday, March 16, 2012
Article describes Kennedy disease (also known as spinal bulbar muscular atrophy), its symptoms, diagnosis, and treatment.
Foot Gangrene Bubonic Plague Infection - Picture Of Bubonic Plague Created: Monday, February 02, 2009 Updated: Wednesday, November 10, 2010
Foot gangrene caused by bubonic plague
Bubonic Plague Pictures - Pictures of Bubonic Plague Created: Monday, February 02, 2009 Updated: Wednesday, November 10, 2010
Pictures of what bubonic plague (the "Black Death") looks like and how it is spread.
Multiple Myeloma - Blood Cell Cancer - What is Multiple Myeloma Created: Friday, June 01, 2007 Updated: Wednesday, November 10, 2010
Information about multiple myeloma (blood cell cancer), its symptoms, diagnosis, and treatment.
ALD and Lorenzo's Oil - ALD and Lorenzo Odone Created: Friday, November 21, 2003 Updated: Wednesday, November 10, 2010
Information about adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.
Bone Marrow Transplants - How They Work Created: Saturday, September 24, 2005 Updated: Wednesday, November 10, 2010
A bone marrow transplant is when special cells (called stem cells) that are normally found in the bone marrow are taken out, filtered, and given back either to the same person or to another person...
Bubonic Plague - Information About Bubonic Plague Created: Tuesday, December 02, 2003 Updated: Wednesday, November 10, 2010
Information about bubonic plague, including its symptoms, how it's spread, diagnosis and treatment.
Lou Gehrig's Disease - Effects of Lou Gehrig's Disease - What Is ALS Video Created: Friday, September 28, 2007 Updated: Thursday, July 29, 2010
Amyotrophic Lateral Sclerosis, also know as ALS or Lou Gehrig's disease, leads to a loss of voluntary muscle movement and coordination and has no cure. Learn how Lou Gehrig's disease affects the bo..
Sickle Cell Disease - What Causes Sickle Cell Disease Video Created: Wednesday, October 03, 2007 Updated: Wednesday, July 28, 2010
Persons with sickle cell disease have abnormally shaped red blood cells. These abnormal cells can cause bone and joint pain, anemia and organ damage. Find out more about sickle cell disease and its..
Silicosis - The Dangers of Inhaling Silica - What Is Silicosis Video Created: Wednesday, January 14, 2009 Updated: Tuesday, July 20, 2010
People who work in mines, quarries, or with glass often inhale a substance called silica and may suffer from silicosis. Here's more information on the symptoms of silicosis and how silica affects t..
Radiation Sickness - Radiation Sickness From Radiation Treatment Video Created: Wednesday, January 14, 2009 Updated: Tuesday, July 20, 2010
Radiation treatment may cause radiation sickness and can weaken the immune system. Learn more about what causes radiation sickness and its symptoms.
Rare Diseases - All About Rare Diseases Created: Wednesday, December 17, 2003 Updated: Tuesday, May 04, 2010
Rare diseases basic information and FAQs.
Brown-Vialetto-Van Laere Syndrome - BVVL- Information About BVVL Created: Thursday, May 08, 2008 Updated: Monday, October 19, 2009
Information about Brown-Vialetto-Van Laere syndrome, including symptoms, diagnosis, and treatment.
Waiting For A Diagnosis - I'm Still Waiting For A Diagnosis Created: Friday, June 12, 2009 Updated: Wednesday, September 02, 2009
People who are waiting for a rare disease diagnosis share their stories.
My Symptoms Were A Mystery - Mystery Symptoms Created: Monday, April 13, 2009 Updated: Wednesday, September 02, 2009
Readers tell their stories of searching for a rare disease diagnosis, and mystery symptoms, and going without a diagnosis for a long time.
ALS: A Guide For Patients And Families - Review of ALS: A Guide For Patients and Families Created: Friday, August 28, 2009 Updated: Friday, August 28, 2009
Review of the book Amyotrophic Lateral Sclerosis: A Guide For Patients and Families by Hiroshi Mitsumoto, MD, 2009 3rd Edition, published by Demos Medical Publishing.
Clinical Trial - What Is A Clinical Trial Created: Friday, August 07, 2009 Updated: Saturday, August 22, 2009
Information about what a clinical trial is, what the different types of clinical trials are, and what the phases of a clinical trial are.
Why Is Getting A Rare Disease Diagnosis So Difficult - Rare Disease Diagnosis Created: Monday, November 03, 2008 Updated: Friday, August 21, 2009
Reasons why getting a diagnosis for a rare disease can be a difficult, long and frustrating process.
In Need Of Diagnosis (INOD) - Information About In Need Of Diagnosis Created: Friday, August 21, 2009 Updated: Friday, August 21, 2009
Information about the organization In Need Of Diagnosis (INOD) including its mission, resources, and contact information.
Hydrolethalus Syndrome - What Is Hydrolethalus Syndrome Created: Wednesday, August 19, 2009 Updated: Friday, August 21, 2009
Information about hydrolethalus syndrome, a genetic disorder, including its symptoms and diagnosis.
Informed Consent - What Is Informed Consent Created: Friday, August 14, 2009 Updated: Tuesday, August 18, 2009
Information about what informed consent is and how it relates to a clinical trial.
Clinical Trial - What Is a Clinical Trial Created: Tuesday, August 04, 2009 Updated: Friday, August 14, 2009
Information about what a clinical trial is and why it is done.
NDRI - Information About The NDRI Created: Wednesday, August 12, 2009 Updated: Wednesday, August 12, 2009
Information about the NDRI (National Disease Research Interchange), including the National Rare Disease Biospecimen Resource (NRDBR).
Rare Diseases Clinical Research Network - Information About Rare Diseases Clinical Research Network Created: Tuesday, August 11, 2009 Updated: Tuesday, August 11, 2009
Information about the Rare Diseases Clinical Research Network of the U.S. National Institutes of Health (NIH).
Scoliosis - What Is Scoliosis Created: Wednesday, July 29, 2009 Updated: Sunday, August 02, 2009
Information about what scoliosis is and why it happens.
Marfan Syndrome - What Is Marfan Syndrome Created: Wednesday, July 22, 2009 Updated: Sunday, July 26, 2009
Information about Marfan syndrome, a connective tissue disorder, including symptoms, diagnosis, and treatment.
Comprehensive Metabolic Panel - What Is a Comprehensive Metabolic Panel Created: Friday, July 17, 2009 Updated: Friday, July 24, 2009
Describes what a metabolic workup is and how it might be used in diagnosis of an illness or disease.
Syndrome - What Is a Syndrome Created: Wednesday, July 15, 2009 Updated: Monday, July 20, 2009
Definition of what syndrome is in medicine and examples of some rare syndromes.
SMA - Information About SMA Created: Tuesday, July 14, 2009 Updated: Monday, July 20, 2009
Information about SMA (spinal muscular atrophy), including the types, symptoms, diagnosis, and treatment.

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