Thursday, February 28, 2013

Rare Disease Day 2013

Today February 28 2013 is Rare Disease Day.

What is Rare Disease Day?
"Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year.  In 2013, it will be observed on February 28th. - See more at:"

What is a rare disease?
"In the U.S., any disease affecting fewer than 200,000 people is considered rare. This definition comes from the Orphan Drug Act of 1983 and is slightly different from the definition used in Europe. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases. - See more at:"

People with rare disease feel isolated and alone.  Even medical professional may not be aware of the disease. There is less research in rare disease because less people are affected by them.    

Abby is affected by a rare disease.  She is affected by Leber hereditary optic neuropathy  (LHON).   LHON is a mitochondrial disease. Its a disease passed on  by a mother to all her children.   Our families mitochondria is mutated.  We have the 11778 LHON mutation. Everyone that is in my mitochondrial line share this mutation. My mother, sisters, nephews, son, daughter, .......  Not everyone who  has the mutation will become blind or affected. It just sits there like  a switch that may or  may not be turned on. My son Sam statistiically has a 50% chance of becoming affected in his life time. 

Abby looking through a bunch of pumpkins that are the same. 
LHON generally affects men in their teens and early 20s but it can affect anyone with the mutation at age and sex.  It generally affects ones central vision different people affected by LHON experience all different levels of vision. 

So today think about those 1000s of rare diseases out there and the people affected in many different ways. You may be surprised how many people you know affected by a rare disease. 

To find out more about about Rare Disease Day

To find out more about rare diseases. 

To find out more about LHON

Are you a family affected by LHON  Check out the group on Facebook 

1 comment:

Anonymous said...

February 28, 2013

I hope your family finds peace and happiness today.