The Fabrys Walkabout
“Where there is charity and wisdom, there is neither fear nor ignorance.”
St. Francis of Assisi
My name is Courtnay Midkiff.
I am 23 years old and I suffer from an illness called Fabry Disease. What is Fabry Disease (Fabrys)? Fabrys is a very rare genetic disorder found in only 1 in 40,000-to-60,000 males. Classified as a Lysosomal Storage disease, Fabrys is a defect in a gene that causes a deficient quantity of an enzyme. This enzyme is necessary for the daily breakdown of a lipid (fatty substance) in the body. When proper metabolism of this lipid does not occur, it accumulates in the majority of cells throughout the body. The resulting progressive lipid accumulation leads to cell damage, which causes a wide array of symptoms. These symptoms range from the inability to sweat, stomach problems, fatigue and chronic pain in the fingers and toes, to severe symptoms, including potentially life-threatening impacts such as kidney failure, heart attacks and strokes (which my brother, who also suffers from Fabrys, experienced in November, 2011, at the age of 26).
Fabrys can affect males and females of all ethnic and cultural backgrounds. Because of the progressive, destructive and potentially life-threatening nature of Fabrys, early identification, evaluation and diagnosis are critical to the health and well-being of individuals with this disease.
There is a treatment for Fabrys, but currently no cure. The treatment now is most commonly administered every two weeks by an infusion of a synthetic enzyme to replace the one Fabrys sufferer’s bodies don’t produce. The treatment is very expensive, costing about $265,000 a year. As you can imagine it is very difficult for people to afford such a treatment, so many people go without, causing their health to deteriorate over time, as the disease is progressive without the treatments.
On March 1st, 2013 I will embark on a backpacking trip from coast-to-coast. I am taking this on with the sole purpose of raising awareness of this little known and chronic disease, and hope to raise $1,000,000 to support a great organization that helps people like me, The National Fabrys Disease Foundation (“NFDF”).
The NFDF is dedicated to supporting the Fabrys community. Their five primary functions are: assisting with Fabry disease education, facilitating Fabry disease identification to improve Fabrys recognition and diagnosis, providing various forms of assistance to individuals with Fabry disease, supporting Fabry disease research and promoting advocacy for Fabry disease issues.
This backpacking trip will, I believe, provide dual benefits, both of which would be positive for the Fabrys community. On one hand, I intend to raise money to help further research and development of treatment; and on the other hand, I expect to give those diagnosed hope, by showing that just because we have Fabrys, doesn’t mean we can’t be as active as anyone else.
Living with Fabrys has made me a stronger person and taught me to never give up or quit anything. Even with the chronic pains in my hands and feet, I’ve had a very active life thus far: I am an Eagle Scout, I love camping and hiking and all sorts of adventures. I also like biking, swimming, surfing, rock climbing and cliff jumping. No matter what condition I am in I will always explore, travel and be adventurous.
My trip will start on March 1st from Virginia Beach and I will be walking through 10 states and nearly 3000 miles of the United States to the Pacific Ocean in California. I will document the entire trip with pictures and videos, and update a website/blog with a weekly video. I will carry cameras and a laptop to view and edit the website and videos from the road. I will be showing my progress on the walk, and the sites I stop in. Im going to be sleeping in tent and sleeping bag and making my own meals for most of the trip, so I am anticipating an interesting and exciting journey.
This trip will be far from free. With the cost of food and gear, I’m hopeful that I can get sponsors to help cover the cost of these items, as well as pledges to be made to the NFDF so they can continue their life saving research and expand the support they provide to those of us who suffer from Fabrys. All contributors will have the benefit of being a part of something that will potentially save lives, as well as being recognized and thanked in all of my updates(tweets,blog entries,videos).
With your help, I can make this possible. With great support, there can only be a great outcome!
Thank you for your time and I hope I can count on you for support in this great venture, for a very worthy cause.