Rare Disease Day

What is a rare disease?


Wikipedia states:


A rare disease is any disease that affects a small percentage of the population.  Most rare diseases lack a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments.


Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear.  Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.  


Global Genes has estimated that more than 300 million people worldwide are living with one of the 7,000 diseases the United States define as "rare"


Scarlett was diagnosed with 1P36 Deletion Syndrome.  What is 1P36 Deletion Syndrome?


1p36dsa.org states:


1p36 Deletion Syndrome is a genetic condition in which a small amount of genetic material is missing (deleted) at the tip of the short arm of chromosome 1.  It causes birth defects, minor changes in physical appearance, and intellectual disabilities of varying degrees.  All children with 1p36 Deletion Syndrome are unique; However, they can share many of the the following common characteristics:


 - Low muscle tone

 - Seizure Disorder

 - Growth/Feeding Issues

 - Characteristic physical features

 - Developmental Delay

 - Intellectual Disability

 - Congenital Malformations

 - Cardiomyopathy

 - Hearing loss

 - Vision or eye problems

 - Thyroid problems

 - Behavior problems

 - Rare conditions


Why are net proceeds benefiting 1p36dsa.org?


1p36dsa.org is a non-profit organization that was founding in 2008 by concerned parents and caregivers affected by 1p36 Deletion Syndrome.  Their mission is "to help individuals affected by chromosome 1p36 abnormalities overcome the obstacles they face to be able to lead healthy, happy, and productive lives.  The organization sponsors annual conferences for families and caregivers working to fulfill that mission.  To learn more about the organization you can visit www.1p36dsa.org


Listed below are other organizations you can visit that support the cause of bringing awareness to rare diseases:


Global Genes - It is a leading rare disease advocacy organization with global reach to the worldwide rare community of patients, caregivers, advocates, and clinical partners.  Their mission is to eliminate the challenges of rare diseases.  On International Rare Disease Day, Global Genes encourages everyone to wear "Jeans" to bring awareness of rare diseases.  To learn more about the organization you can visit www.globalgenes.org


Rare Disease Day - Their main objective is to raise awareness with policy makers and the public about rare diseases and the impact on lives of patients, and to reinforce their importance as a public health priority.  They publish a yearly video to share around the world to promote awareness.  To learn more visit www.rarediseaseday.org

Guardian Hands - It is a Miami, Florida not for profit that was founded by a mother who has a child with a rare disease.  She holds an annual "Rare Disease Walk" .  To learn more visit www.guardianhands.org