Number 1 is the Loneliest Number- my son and ATG4D

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...

We have a researcher! A researcher was found from the UK who has been studying ATG4D in a functionality sense. We have been in contact via email and I am currently working on getting him in touch with Asher's doctors.  We also have a couple of more leads to look into as well however Asher still remains the one and only at this time. Asher also had made great strides himself this week.  He was fitted for SMOs  (a type of brace/orthotic) and he took them home almost 2 weeks ago.  He loves them! They have batman on them,  which he chose of course,  and was able to do things in PT today that he hasn't been able to do.  A  simple 2 footed jump is nothing to most of you but it was a big step for this guy!  He has also has been able to run and walk more easily with less falls. This entire week we have felt incredibly blessed from the outreach and support of everyone. This little blog has been viewed over 9,000 times and had reached more than 10 di...

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...