Update!

-
Just wanted to give everyone a quick update on what one little blog can do!  We are very excited to hear, there are researchers at the NIH who would like to further examine Asher as part of their research project! This is a huge step forward! More details to come!

Comments

Post a Comment

Popular posts from this blog

Seeking Answers

-
Image
My name is Jennifer Lange.  I am a wife, a nurse, and the mother of 2 children Asher (4 years old) and Lorelei (8 years old).  My husband, Robert, and I are desperately seeking answers for our son's disorder, a neurodegenerative vacuolar storage disorder that has only been identified in dogs with changes to Atg4d as the identified cause.   http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005169 Asher was born at 41 weeks gestation weighing 7 lbs 11oz. He sat up,  crawled, climbed,  walked and talked within appropriate times. He was strong but always a little clumsy. At his 2 year well check up,  the pediatrician noted he was a little floppy for his development.  She suggested getting him in the pool and try and strengthen up his core muscles. So we put him in swimming lessons,  let him "swim" in our big tub and things looked good. Then late August 2014, Asher was 3 years old and 2 months, we were out fo...
Read more

National Institute of Health update!

-
Image
Ok,  so I know it's been way too long since I last updated everyone.  It was a crazy summer and then we slammed into fall! Time flying by is an understatement! Over the summer we took a short break from OT but started pool therapy for PT. Asher loved it and it was a great modality for him! He had always been obsessed with anything water so this was a definite win for him!  Other than that just the usual juggle of parks, kids, friends, dance (Lorelei), swimming, appointments, birthdays, and of course work. Asher is now 5 years old and started kindergarten! He loves his new teacher and was very excited one of his best friends is in his class! We had to have "the meeting" of course before school began to go over his IEP and so the whole team could learn more about him and what to watch for. We also got our official date and approval for going to the NIH, the largest research campus in the United States, and we are leaving tomorrow! This was all arranged sometime in Au...
Read more

Progress, or something like that

-
Image
Just wanted to give all of you out there a little update on what has been going on this week.  People are still continuing to share around the world and we have been contacted by several different people about resources/ tools that are available to us. Our team of doctors have been hard at work as well.  Communicating back and forth not only with each other but also reaching out to another researcher! Just this week there was a press release of a Dr. at the University of Michigan, about a set of siblings who have ataxia and it has been contributed to ATG5, a family member of ATG4D. They were able to examine it and determine how the autophagy process was disrupted.   ( http://www. biosciencetechnology.com/news/ 2016/01/rare-find-two- children-leads-discovery- about-autophagy ) Our team reached out to them and they are very interested in studying Asher!  They are a project that already has funding in place and it is much easier to ship samples to Mi...
Read more