Hi Everyone, We got home safely early monday morning with only a little plane delay. I wish symposium was longer, it always seems like there isn't enough time and it always leaves me wanting more time with everyone. I can't wait to see you all again next year. I'll write more later. Love y'all
Friday July 4th Hi Guys, I can't wait to see everyone in a few days. I am soo excited!!Oh yeah Happy Fourth of July!
Wednesday, May 7, 2008 1:24 PM Hey Everyone, I got back from my four year post transplant check up at Duke. All my testing came back amazing!! The skin oppenings were caused by too much cortizone in my body. So Dr. K took me off all my Hydrocortizone. One Less Med.!!Yea!! All my openings have finally closed up!!! I will be going to Symposuim, Dr. K is using me as an example on how well transplant can work. I am excited to get to see everyone again, I can't wait!!
Sunday, April 20 Hey guys, I'm back at Duke all my testing is going well. I will write after I get home on Tuesday.
What is Krabbe Disease? Globoid Cell Leukodystrophy, more commonly known as Krabbe (crab-a) Disease, is an inherited neurodegenerative lysosomal enzyme disorder affecting the central and peripheral nervous systems. Children who inherit the disorder lack an important enzyme (GALC) that is needed for the production of normal myelin (white matter) in the central and peripheral nervous systems. Myelin is the protective covering of the nerve cells and acts like insulation surrounding an electric wire. When the enzyme GALC is deficient it produces toxic substances in the brain, causing myelin loss, change to brain cells, and neurological damage.
The Cause Behind Krabbe Disease
Krabbe disease is inherited in an autosomal recessive manner. If both parents carry a disease-causing mutation in the GALC gene there is a 25 percent chance of having a Krabbe affected child with each conception, a 25 percent chance that each offspring will be a carrier and a 50 percent chance of having a child who does not carry a disease causing mutation. This genetic disease is found in all ethnic groups. The carrier rate in the general population is estimated to be 1 in 125. Krabbe Disease occurs in about 1 in 100,000 births in the United States. Diagnosis can easily be made by testing the white cells from a blood sample for GALC activity.
Your gift will help millions of people stay connected with friends and loved ones during challenging times.
This page has been viewed 35654 times.
Site Sponsored by:
Duke Pediatric Bone Marrow and Stem Cell Transplant Program
Note: The foregoing information was
authored by the patient, parent or guardian, or other parties who
are solely responsible for the content. Such announcements or their
content are not necessarily endorsed by CaringBridge, Inc. or any
sponsoring agent. This information does not confirm that anyone
is or was actually a patient at any facility.
