Genetic Disorders
There are more than 7 billion people in the world, and while we are all uniquely different, our building blocks are the same.  Human genetics dictate that each of us receive 23 pairs of chromosomes, or 46 total – one set we receive from our mother and the other we receive from our father.  Those 23 pairs of chromosomes make us exactly who we are, and uniquely who we are.  While it would seem as though medical advances would allow us to know a great deal about these basic building blocks, the opposite is true.  We know very little about how these 23 pairs of chromosomes specifically pertain to the 7 billion different people carrying them.  Even more overwhelming is how little we know about our chromosomes when abnormalities begin to occur
1 in 200 people are affected by some form of genetic abnormality. That’s 35 million people!  These abnormalities can take shape when all or part of a chromosome is missing; when an extra chromosome is present; or in thousands of variations and combinations of each.

Harper at age 3, just after diagnosis.

With so many different types of abnormalities, there is just as many genetic disorders caused by these abnormalities.  Since no two genetic abnormalities are exactly alike, understanding our basic building blocks to help improve the lives of those with genetic disorders is a major challenge.  When combined with the sheer volume of people affected by genetic abnormalities this becomes an even more daunting task.  Daunting as it may be, further research, testing, and study is what is needed to create hope for finding treatments and additional support.
Already, research has shown that early detection and intervention can drastically improve the lives of children and adults with genetic disorders.  The future is waiting to be discovered with this additional research, come join us in the quest!  Harper’s quest!  

Harper on her 4th birthday!