Thursday, July 28, 2011

Rare Disorders - Raising public awareness

A special insert in the Washington Post this week highlighted rare diseases, the need for more treatments, and the challenges of having a rare disease.  Below are two of several good articles that appeared in the Post.  If you want to see the entire insert, send the KDA an email ( and I will forward you the PDF document.


According  to the National  Institutes  of  Health  (NIH),  there  are nearly  7,000 diseases defined as rare, or affecting  fewer than  200,000  Americans by U.S. definition.  

Somebody  you  know  has one  of  these  diseases,  and  the patients and families coping with them  need  our  help.  They  live with  day-to-day  challenges  that are  vastly  underserved  at  this time  by  our  medical  and  public health systems. 

This results in shattered dreams,  unnecessary  expense,  lost  productivity,  and  all  too  often,  premature death.


What are the challenges?


Even  though  each  disease  is unique, the problems associated with having a rare disease tend to be consistent. They include:
  • Delayed or inaccurate diagnosis
  • Difficulty finding a medical expert
  • Too little research
  • Few, if any, treatment options
  • Insurance  or  other  reimbursement problems
  • Lack of awareness and understanding of the patient’s needs
  • A sense of isolation.
Rare  diseases  are  often  called  “orphans”  because  they  are  forgotten  and  “unclaimed.”  Many  rare  diseases  are  not  being  studied  by  any  researchers  because  there  is  little  or  no  public  funding  for research.

In  fact,  much  of  the  research on  rare  diseases  today  is  being funded  by  patients,  families, and  patient  organizations  raising money through golf tournaments,  bake  sales,  and  other  means  to provide grants for researchers at universities and hospitals.

Seek Treatment


Only  about  200  rare  diseases  currently  have  treatments  approved  by  the U.S. Food and Drug Administration (FDA). That leaves many patients  and  their  families  in  the  position  of being treated with products not specifically approved for their disease or  not being treated at all. 

Furthermore,  more  than  half  of  the patients are children. The organization  I  represent—the  National  Organization  for  Rare  Disorders  (NORD)—receives phone calls and  emails on a daily basis from parents  who are coping simultaneously with  the  challenges  of  having  a  desperately sick child, appealing insurance denials, finding appropriate medical  care,  and  educating  their  families  and   friends  about  their child’s disease.  It’s  a  lot  to  deal  with,  and  no  one should have to do it alone.

Just by becoming more aware of  rare diseases and the needs of the  children and adults who have them,  you  can  help.  The  word  “rare”  is  misleading.  These  diseases  touch  lives all around us, and as a society  we need to pay more attention.  It  could  be  your  son  or  daughter,  or  your  elderly  parent,  who  is  affected. 

If we all focus a little more  on these issues, we could improve millions  of  lives,  reduce  unnecessary  healthcare  spending,  and  put meaning  in  the  phrase:  Alone  we  are rare. Together we are strong.
Peter  L .  Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)



Mothers lead the way in researching rare disorders


Few  medical   conditions a re as difficult  to  diagnose  as  rare  disorders. Many patients wait seven to  10  years  before  receiving  a correct  diagnosis,  and  when  the disease is finally given a name, 
the  person  behind  that  diagnosis  is  often  a  mom.  Why? 

  • First, 80  percent of all rare disorders including  cystic  fibrosis,  childhood  cancers,  and  numerous unnamed  diseases  are  diagnosed  during  early  childhood. 
  • Second,  physicians  receive  little medical training in rare disorders and  can  spend  an  entire  career without  ever  encountering  one. 
  • Third,  and  most  importantly,  is the strength of a mother’s instinct  to  protect  her  young  –  she  is  literally  fighting  for  her  children’s lives.  Empowered  by  the  inter-net, these mothers research and network  with  unmatched  skill.
“The  Internet  gives  patients  and  caregivers  access  to  medical journals , clinical trial investigators,  advocacy  organizations and  government  officials.”  Additionally, mothers employ the  use of social media for sharing news,  experiences  and  resources.

“Having support and encouragement  right  at  their  fingertips  can transform  a  family’s  solo  ordeal into  a  shared  journey;  stripping away  feelings  of  isolation  and bolstering  their  faith  and  determination.”  A  simple  click  of  a  mouse  can  make  a  world of difference. 

Wendy White 
Founder and President, Siren Interactive


  1. Thanks for posting this. Enough cannot be said about raising awareness. It's a lonely scary feeling when even my Primary Care Physician admits they had to 'Google' Kennedy's Disease because they had never heard of it or that the Local Neurological Center says nobody there has any training or experience with anybody with SMA.

  2. Mike, I could not agree more. Those of us veterans (the ancient warriors so to speak) have been educating not just doctors, but also Social Security employees, employers, the public for years. I wonder how many doctors-to-be at Emory University I have given explanations and reading material to over the last eight years? (A bunch is as good a number as I can come up with)


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