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All about Josh's First video Blog I wanted to talk to you guys about GA1 and show you what it was like for me as as baby and show you guys what its like for me a young boy and what its like to be a adult with GA1 and show you guys that I know how to have a good time too. Just watch through the first part, where my cousin and I lived together, then it goes to when I was 21 months old and got sick from GA1. I Wanted to do all of this in one video. I Know some of you may not like or get wrong ideas about the video by the intro but the next one will be a lot better. The next one I am going to try to do me walking around and some other stuff.Some of this stuff in this video is just for fun and to make it longer. This video is about me a few years ago and whenever I first got sick with GA1. So can I get some likes.
Latest Videos
This is my second video blog. In this video I will talk about how I met Stormie and what happen to her and how handled what happen to her. I will also talk about me being put in handcuffs and what else happen to me and much more.
This is what I do in the mornings most of the time between my moms and dads house and my house Check it out
This is something I haven't did a video on for a long time. So watch this video if you want to see me clean my house like make my bed and things like that. I just do things a bit different everyone else.
GA1 Stories & GA1 Research
Mohannad is a 2 year old boy who was born a healthy child. However, at the age of 11 months he became unwell and was rushed into hospital. After having many tests he was diagnosed with GA1. This disease is very nasty and has left Mohannad physically disabled. He can no longer walk, support himself in an upright position, talk or eat without his food being puréed. There is no cure for GA1 but with the help of special medicine and a low protein diet Mohannad can lead a happy and fulfilling life. tyles.
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.
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.
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. n and set other styles.
Mayfield-Tv News
This is the new newsletter of Mayfield-Tv. It will be going out on Fridays It will contain the latest blog post and latest videos from the Mayfield-Tv site, my youtube channel and JKMGA1STORY. Since I'm coming out with new content 2 days a week I shouldn't have no problems coming out with a newsletter at the end of the week that being Fridays.
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This book is about a rare disorder called GA1. It is cause by to much protein build up in the body. This book is also about how I grow up with it.
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