Post Archives

Visitor Survey

Visitor Survey

orphan disease

Link: How the rare disease community can help Mark2Cure help rare disease research

Now, imagine if patients could even more1 to advance research on their own disease? Would being able to say, “I helped discover that” be empowering? There are some examples of when patients or parents of patients became research experts and pioneered new discoveries about a disease, but that is not the norm.

Read more about Mark2Cure by visiting this post by “ginger” at http://sulab.org/2015/01/how-the-rare-disease-community-can-help-mark2cure-help-rare-disease-research/.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Too Rare for Research? People with rare diseases often experience significant delays in diagnosis and access to few, if any, treatment options.

When Jon Soeby snipped his newborn son’s umbilical cord, baby CJ grunted. Astonished, the doctor joked that CJ was already trying to talk. But CJ’s parents felt something was wrong.

The article talks about CJ, a child born with a rare disease called hypothalamic hamartoma. Orphan diseases (affecting less than 200,000 Americans) can and often do experience long delays in diagnosis and treatement of their conditions. Treatment options are often few and far between, if there are any at all. A diagnosis may be years coming, if one comes at all. This is a terrifying reality for thousands of individuals around the world.

The full text can be found at Neurology Now in the April/May 2012 edition.

 

Copyright ©2012 American Academy of Neurology

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.