Hi Everyone, Lately I have been inspired to take on a new project. I am not ready to tell everyone what it is yet, but I would like it if you would pray for me to make wise decisions on undertaking my new concept. Hopfully I will be ready to share with all of you my increadable idea soon. Thank you for your prayers and support. I will write again soon.
Sunday, March 15 5:50 PM CDT Hi Guys, I am doing well. I have just gotten over my 2nd round of the cold I have had for 5 weeks...Yuck! Anyways I am doing well now and in school. I have just been transferred to a new neurologist. Well that is from my children’s neurologist to an adult neurologist UCSF. We made sure that he is willing to work with my team back east. He wants to learn about krabbe and all the tests they do for my post transplant check-ups. He seem to be very willing to learn and very open with us regarding all things medical. He also is not afraid to tell us he doesn’t know. (Which as you all know can be hard to find in a doctor.) I will write more soon.
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.
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