Hawaii has a beautiful tradition of cherishing our keiki, so it is disappointing that our state officials have chosen not to join 29 other states in declaring February 28, 2009, Rare Disease Day in our state.  As part of a global effort, the National Organization for Rare Disorders (NORD) coordinated a campaign to encourage governors across the United States to proclaim the last day of February Rare Disease Day.  According to the National Institutes of Health (NIH), rare diseases are defined as affecting fewer than 200,000 Americans.  There are almost 7,000 rare diseases that affect close to 30 million Americans, many of them children.

As a director of Chromosome Disorder Outreach, a non-profit organization that provides information and support to families affected by rare chromosome disorders, I wrote a letter to Governor Lingle explaining the purpose of Rare Disease Day and requesting that she recognize this important day in Hawaii.  I first emailed my letter to Governor Lingle with no response.  I sent it to her a second time, at which time I copied it to Lt. Governor Aiona’s office.  One of his staff telephoned me hours after receiving my email to say that they had forwarded it to the Constituent Services Office.  That office never contacted me, so I sent the same letter again to Governor Lingle, Lt. Governor Aiona, and the Constituent Services Office.  As I write this letter, it is now February 26, so it appears that time has run out.

Rare diseases affect our children here in Hawaii.  My daughter, Cayli Pualani, was not diagnosed with a rare genetic disorder until she saw specialists on the mainland.  She had suffered from seizures, a severe language disorder, and sensory integration issues with no satisfactory explanation, until a blood test determined she is missing part of her third chromosome.  We are among the lucky ones; at least we have a diagnosis.  Many children suffer multiple medical concerns for years without a reason why.  Understandably, this can be an incredibly stressful situation for a family to endure.

Increased awareness of rare disorders is necessary to enable doctors to properly diagnose them in a timely manner.  This would lead to the development of effective and appropriate treatments for these conditions.  My hope was that recognizing February 28, 2009 as Rare Disease Day in Hawaii would help accomplish this goal.

Sarah Johnson Carter, J.D.
Director, Chromosome Disorder Outreach, Inc.
Kailua, Hawaii