Journal

Wednesday September, 22 2010

Hi Everyone,
Sorry it has been so long since my last update. by the grace of god we are still in our house...well we have not been kicked out yet. We are hoping to be able to stay in it for a bit longer. We do have a family that wants to buy it, but they cannot buy it untill December. So I ask for prayers that we do not go into foreclosure. As for me I am in great health and doing well. We shipped my brother off to collage in southern Illinois. He is loving it. My mom and I are staying busy with the house. We are going up to Apple Hill next month and getting a bunch of fresh apples. Yumm...Anyway got to run. I will try to update more frequently.

Monday, April 5, 2010
Hi, Everyone,
So thing arround here are a little stressful. We are really needing to sell our house. We do not have a morgage payment for next month. So we may be homeless if our house dose not sell by May. If that occurs we may be moving to my grandmother's in Idaho in the middle of nowhere. It would not be a huge issue except there are no medical facilities to get to quickly if anything goes on with me.It is a couple hours drive to the nearest one. We are trying to move to north carolina so I can be close to my doctors, but if our house dosnt sell we cannot move to where I can get help. If you know anyone looking to buy a house our's is for sale.


Monday, March 22, 2010 4:30 PM CDT

Hi Everyone,
So here is the latest update. In November I got a sinus infection. If my sinus infection lasts longer than week I know I have to go in and get levaquin to get rid of it. Well here is what happened: My dad lost his job so the last day I had insurance was the last day of November. So I made an appointment that day. Come to find out my regular doctor was not in. GRRRRR... Anyway I saw one of her associates and told him what protocol was for me. He did not want to give me levaquin. He said that that was a strong antibiotic and would rather give me something a little less potent. It was a cousin to levaquin and it should have the same effect. Well we went back and forth about what I was going to take and eventually I gave in and said I would take what he wanted to give me. I know better than to give in!! Anyhow, I took the med and it killed most of the infection but not all of it. So I spent December with a little residual infection still in my sinuses. In January it decided to become a full blown infection in all my sinuses. And levaquin without insurance is $285 and I did not have that kind of money. So I did not go to get any meds. By the end of January the infection dropped into my glands in my throat and into my lungs. So I had pulled out the nebulizer and was using it so I could breathe. I also was downing many cups of ice a day for my throat. The first weekend in February my mom was at church and was talking to a family friend about what was going on with me and she had left the room and called her husband, who was a doctor. She told him what was going on and he said he wanted to see me immediately. I went in and saw his associate who he had called and given instructions to. She looked me over and asked questions about krabbe and we answered them. Then she gave me two weeks worth of sample levaquin for me to take and we were on our way. God is so wonderful and know what we need. The next Tuesday my dad’s cobra insurance kicked in. Nearing the end of the two weeks the infection and all that went with it was almost gone but still needed another week of the antibiotic. I called my regular doc and told her what had gone on. She said she wanted to see me. So I made an appointment and went in to see her. She wrote me a Rx for one more week of levaquin. Mid the next week I was feeling weird I could not put my finger on what was wrong. I did not feel good but I had not felt good in months. So I decided to take my blood pressure. To my shock it was 82/57!!! So I took myself off the last blood pressure med that we added Atenolol. I called my doc and told her what happened and what I had done and she thought it was a good choice. By that Friday all my infection was gone but I still felt horrible. By Friday evening my blood pressure machine would only take my blood pressure when it felt like it, or so it seemed. I still had low blood pressure but my heart rate the couple times I got a blood pressure was around 145. It would take both my mom’s and my brother’s but not mine. We spent all weekend trying to figure out why it would not take my blood pressure. Monday I made an appointment to see my doctor. We went in on Wednesday and my doc could not find a pulse in my arm. She found it in my neck. She listened to my heart and got about the same heart rate the machine got at home. She decided to send me to a cardiologist. We couldn’t get an appointment until Monday. On Monday we went in and met the cardiologist. He impressed me. He is the first doctor I have had in California to do research on krabbe before he saw me. Not that there was much to find about me but he looked. We proceeded to tell him the course of events that had brought us to him. At the end of our explanation he smiled and said I know what is causing your tachycardia. You took yourself off a Bata blocker cold turkey. So we made adjustments to my meds and made an appointment to see his nurse practitioner in 2 weeks. We made the Atenolol half a pill in the am and half in the pm. We did the same with the Spironolactone. A week into these dosages my heart rate was down to 110 which was better. But my blood pressure was still hanging around 90/60 which was still low. So I stopped taking the Spironolactone. My blood pressure went up and my heart rate actually started hanging around 100. When I met with his Nurse Practitioner at my appointment I told her what I changed and she thought it was a good change and that the Spironolactone might have been agitating something. She said to keep doing what I was doing and she will see me in a month. So right now I am doing well and trying to stay busy. I will be 6 years post transplant April 1st!!!!!







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.