Owen's Medical Fund

Hello,

My name is Owen and I am 23 months old. I was born on mothers day 2012 (which was the best mothers day gift my mom could ask for). I was born a healthy 7 pounds and was all boy. My parents watched with delight as I grew and hit all my mile stones. I was rolling, sitting up, pulling myself up onto furniture, crawling and playing pattycake. But one day When I was about 9 months old my grandmother noticed that I didnt seem as strong as I once was, as if I was losing some of my muscle tone. Instantly my parents took me to my doctor expecting to just be told I had some developmental delays. One test turned into many, days turned into months and my parents hopes began to diminish as did my abilities. When I was 16 months old I was finally diagnosed with a very rare lysosomal storage disorder called GM1. No one in our family had heard of it but apparently it was in our genes. It is a disease in which there is a lack of the production of an enzyme thats job is to break down another in the brain. So as that enzyme builds up it cuases inflamation and brain damage usually ending in failure of the heart or complications from phenmonia.We were told by the University of San Fransisco that there was nothing we could do but stand by and watch me slowly diminish. Fortunatley my parents didnt except that as an answer and worked with my amazing locol nuerologist to find help. We were led to the University of Minnesota where they are trying to slow down the regression process with a drug called miglustat combined with the ketogenic diet (almost no carbs). Its not a cure, but it may buy me some time until there is one. We will have to travel to minnesota every 6 months where I will endure test such as a spinal tap and mri to see how my regression is doing. In the midst of all this my parents have had to deal with the daunting task of dealing with our insurance company to get me everything I need to live a comfortable life such as a bathing chair, wheel chair, stander, neck brace, etc. As I can no longer crawl, sit, eat by mouth or pretty much make any major movements on my own. We have been asked by many to set up an online page for people wanting to donate to help us with our expenses as they arise, for example my wheel chair was approved but not the straps to hold me in or the tray to hold my toys. Mom and dad can pay for most, but things add up and as you know insurance doesnt pay for everything.Also our trips to minnesota cost out of pocket as well since the study is not funded by the hospital. I hope you read my story and share it with all you know because this is a very rare disorder and it took my family months to find a diagnosis and even more time to find help. So it is my hope to raise awareness of GM1 so that it may help other families out there as well.