Rare Disease Research

I visit Klippel Feil Syndrome websites and online groups quite often. I like to stay abreast of any new research as well as connect with other parents who have children with KFS. On every website dealing with KFS, there is one name we, as parents, are all familiar with. One lone researcher living in Australia studying KFS and possible chromosome involvement. Dr Raymond H. Clarke was able to identify a gene that may be responsible for the syndrome in some patients. Dr Clarke was our only hope of discovering more about this syndrome and apparently he has moved on. Breast cancer research. A very important topic of research, but where does that leave my child?

Studying rare diseases doesn't just help the small population directly affected, but any research and any knowledge gained about our medical health can and will directly benefit the population at large. Take KFS as an example. KFS is a rare congenital disorder affecting approximately 0.2 cases to 0.7 cases per 1000 people (Gjorup & Gjorup, 1964). True incidence is not known because of the lack of cross sectional studies of the general population. The incidence could be greater than we think knowing that many people have a very mild form of the syndrome and aren't diagnosed until adulthood and entirely by accident not experiencing any symptoms whatsoever. It's probable, many people escape diagnosis completely. 

KFS is defined by a congenital fusion of the cervical vertebrae. Leaving out the other associated conditions, KFS deals with the spine, vertebrae and brain. It's quite possible and probable that researching KFS will lead to more information that could benefit people with other congenital spine disorders or people who have traumatic injuries to the spine and vertebrae. When you look at the list of associated conditions, this research could also lead to more information about deafness and kidney disease. 

We also have a moral obligation to children and their families. The truth is that I probably know more about KFS than most pediatricians or WebMD. Having a child in the house with KFS and speaking to other parents of children affected, I know there are more associated conditions than listed on any website or orthopedic pediatric textbook. Parents of these children, could write a wonderful addendum to the tiny KFS section of any medical textbook.  

Luckily, there is a nonprofit organization raising money for rare disease research. The National Organization for Rare Diseases raises funds to support rare disease research. 

National Organization for Rare Diseases

Raising money and raising awareness by celebrating Rare Disease Awareness Day, February 28th, 2011. In addition, the Global Genes Project is asking people to wear jeans on February 28th. Because it's in the genes!  :)

Here is an older video by the Global Genes Project that I really love.