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  • Comments • 35

    Mayfield-Tv
    Helen Elizabeth Oakley - Where to start about my experience of GA-1, well I had a crisis at 7 months and another crisis at 18 months I think. My mum didn't know that I had GA-1 until I was 7 months old, there was no knowledge like now so I had brain damage twice. My mum had to learn how to cope with GA-1 and it really was very very hard on my mum and dad.
    Mayfield-Tv
    Check out whats coming to Mayfield-Tv on youtube 05/08/2019 New Mayfield-Tv Channel Video Intro - Mayfield-Tv Its a video channel intro where I talk all about my channel and what the channel is about and invite you to my websites. All day Youtube 05/13/2019 Reviewing Magnif-fect Seeing Impaired App - Mayfield-Tv I use this app a lot on my phone because I have problems seeing it sometime so this little is nice. You can get it here. It's free https://play.google.com/store/apps/details?id=com.magniffect.chetan.magniffect&hl=en_US
    Mayfield-Tv
    Morning Routine Part 2 - Day In The Life Of A GA1 Adult - Mayfield-Tv Coming out Monday at 12am
    Mayfield-Tv
    There's no more mayfield-tv.info web site because I wasn't getting the views like I am on here to keep it up but if you type in jkmga1story.info or mayfield-tv.info it should forward you to this page on my youtube channel. Thanks!
    Mayfield-Tv
    I do youtube for fun and I made Mayfield-Tv for fun and I am having a blast doing it so keep watching
    Mayfield-Tv
    Research on Glutaric Aciduria Type 1 at the Icahn School of Medicine at Mount Sinai - The Icahn School of Medicine at Mount Sinai is an international leader in medical and scientific training, biomedical research, and patient care. The Department of Genetics and Genomics Sciences has been studying of inborn errors of metabolism for several decades leading to many scientific breakthroughs and the development of new therapies for patients. One of our current projects focusses on Glutaric Aciduria Type 1 (GA1). GA1 is caused by a defect in one of the (enzyme) steps in the breakdown of the amino acid lysine. Due to this defect specific breakdown products such as glutaric acid accumulate. This accumulation is thought to be harmful and the cause of the brain damage after a so-called acute encephalopathic crisis. Current treatment of GA1 aims to reduce lysine intake through a specific diet, and prevent encephalopathic crises through specific emergency measures during illness. Our research project on GA1 has 2 aims. To better understand the disease in particular which processes cause the brain damage Although our understanding of GA1 is very advanced, there are also some questions that remain unanswered. For example, although all experts believe that the brain damage is caused by the intolerable accumulation of metabolites derived from lysine breakdown, the exact identity of toxic molecule(s) is unknown. Also the process that leads to the brain damage is incompletely understood. Answering these questions is a very challenging problem, but the use of a GA1 animal model can help. Animal models are selected based on their resemblance to the human disease. In the case of GA1, there is a mouse model that displays many of the features of the human disease such lysine-induced brain damage. The use of a mouse model enables us to study aspects of GA1 that are impossible to address in human patients. To develop new treatment options that prevent the accumulation of harmful breakdown products through modulation of the lysine breakdown process There are humans with defects other than GA1 in the lysine breakdown process. Surprisingly some of these defects are considered not harmful. We are using this knowledge to investigate if we can manipulate lysine breakdown in GA1 patients in such a way that the accumulation becomes less harmful. For this research, we are using cells that have the same defect as GA1 patients. Ultimately, we will also use the mouse model. The ultimate goal of our research is to improve the lives of GA1 patients by increasing the knowledge about the disease and develop additional treatment options.
    Mayfield-Tv
    I will be live later on here so watch me
    Mayfield-Tv
    I know I'm going to do with my first sponsorship you guys. That's get rid of all of my watermarks on everything that I put on youtube because watermarks suck. So come sponsor me anyone. Please!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
    Mayfield-Tv
    Happy early mothers day to all the moms out there on youtube
    Mayfield-Tv
    Josh's Second Video Blog coming soon
    Mayfield-Tv
    Sunday, October 20 from 11 to 3 Byrd Center in Pine Grove I will be live on Twitter Facebook and YouTube at my mom's Amy Lowe benefit for cancer
    Mayfield-Tv
    Email update - My jkmga1story.info email is back up
    Mayfield-Tv
    I know I didn't upload nothing this morning but that's because I am partying a lot over the weekend with friends and family I will upload a new video Wednesday. Thanks!!!!!!!!
    Mayfield-Tv
    Órla is 6 weeks old today! Her diagnosis came as a result of NBS when she was 9 days old. She was admitted to a hospital which specialise in metabolic disorders to begin treatment the same day. Órla had further tests to confirm her diagnosis, an MRI to assess if there were any abnormalities to her brain - thankfully, it just showed the changes to the brain which are expected to be seen in a baby with GA1 (larger spaces between the lobes), she now has a strict feeding and medication plan with an emergency regime in place should we need it. We are reviewed every week at the moment to ensure her feeding and medication plan is appropriate for her weight. Our next hurdle is her vaccinations due in two weeks, fingers crossed she doesn't experience any adverse reactions/fevers/crisis.
    Mayfield-Tv
    Hi! I have Glutaric Acidemia Type 1 and my name is Josh Mayfield and I am 35 years old. I founded JKMGA1STORY as a teenager in high school in 1999 it had a really long web address back then. I made it because I wanted to help people with GA1 also known as Glutaric Aciduria Type 1 also know as Glutaric Acidemia Type 1 and to spread awareness about this disorder. I will refer to it as GA1 just because its easier. Now back to my story. When I was first born I was a normal baby then I started walking and talking like a normal baby would. Then one night I just started not acting right. I lost all capability to do anything that night. I was life-flighted from New Martinsville Hospital in Wetzel county to Pittsburgh Children's Hospital to find out what was going on with me. There we met Doctor Bergman and Doctor Finegold. They did a few test at Pittsburgh Children's Hospital one of them was a spinal tap test. They did find GA1 in the spinal tap test and diagnosed me with GA1. I was put on a low protein diet back then. Back when I was diagnosed not to many people had this that we know of. I got all of my capabilities back over years and years of hard work. I had to go back to Pittsburgh Children's Hospital to see the doctors every now and then to make sure that my protein was stay down. Then I went back one day and the doctors told me I could eat whatever I wanted. So that was good. But anyway a little about GA1. GA1 is a protein disorder and the protein builds up in the body of the person that has it and damages the Brain and damages other parts of the body like the nervous system. I have no brain damage from GA1 I don't think. I think I'm pretty smart. The time first I met someone with GA1 was from my website and his name was Matt him and his family came to my school to meet me. It was fun and I will never forget it. I passed school with a 4.0 and I had a job during school. But I had teachers aids during all of school and a few special ed classes and I graduated from Valley High School in 2002. Then from there went to The West Virginia Division of Rehabilitation Service to get my masters masters degree in web mastering but that didn’t pan out because they didn't have that service there any longer so there for I took life skills and janitorial classes witch didn't do me any good because I was voted out of my janitorial class and made to come home because they was afraid I would fall and get hurt. Then after I came back home from there I moved to town with my cousin and I made friends with a woman and a guy named Leslie and Jay. They had 2 kids named Cady and DJ. Cady had PA also known as Propionic Acidemia I'm just going to refer to this disorder as PA and DJ had autism and after we met we was asked in 2007 to go for a bill signing in Charleston West Virginia to get new state wide newborn screening so that the doctors could catch PA and GA1 and I forget what all else earlier. We all helped get that bill passed. But after this happen I went back to college online. I went to University of Phoenix online to become a webmaster and at this time in my life I met Stormie. She had CP also known as Cerebral palsy but she was the girl I wanted to marry and the girl I wanted to spend the rest of my life with. I moved to Clarksburg with her then I dropped out of school cause it was to hard going to school and having a girlfriend that I wanted to spend time with. We live in Clarksburg for 2 years I made a movie and wrote a book about my life with GA1 whenever I was with her in Clarksburg. then we moved back to New Martinsville so that I could be near my family and friends. Then Stormie passed away and I moved back to my moms and dads because stuff just got to hard for me to handle with her passing away. I got me one them tiny houses at my moms and dads. Well lets just say I'm making into a tiny house. Now let me tell you about other stuff I'm working on I'm working on coming up with stuff for Video blogs and live videos for you guy and but for now that’s all I have to write. Thanks for reading.
    Mayfield-Tv
    My jkmga1story.info email is going to be down for a few days. Just a heads up.
    Mayfield-Tv
    Happy thanksgiving to you all and I hope you had a safe and happy one
    Mayfield-Tv
    I am trying to come up with some new videos just not sure what I want to upload next
    Mayfield-Tv
    I would like to be friends with other small youtubers if you like and grow our channels together
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