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Showing posts from 2016

National Institute of Health update!

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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

"I wish to swim with the dolphins!"

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We're on our way home from the most fantastic week that all started with a wish,  some loving friends and family,  and an incredible organization called Wishes & More! Asher's wish was to swim with the dolphins and we were sent on a Disney Cruise by Wishes & More with a dolphin excursion in Cozumel! It has been a surreal experience! We were able to get away and be taken care of like we have never been before! Wishes & More arranged everything and Disney Cruiseline took it from there! We only had to try and remember what day of the week it was.  We truly could have not had a better experience and are eternally grateful for this experience!

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!

An update from Life in the Gray

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Life in the gray.  I refer to that phrase frequently because that is what our life had become.  So called answers, end up with very little clarity and yet more questions. Sometimes it's depressing but most of the time,  it's just what it is. It's like we are trying to navigate in a really dense fog, so dense you can't even see much more than in front of your face. So we keep moving,  attempting to navigate and praying we are moving forward but sometimes find out we have just been walking in circle. Nonetheless we continue onward because you never know what you will stumble upon in dense gray fog, some good, some not so good. So as an update to our journey, almost 2 weeks ago all 4 of us had our blood drawn and sent to the University of Michigan! We won't know anything for quite some time. They actually stated, "a long time," so what that actually means I have no idea because their idea of time is much differnt than mine.  For example,  an urgent appoint

Progress, or something like that

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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 Michigan than across an ocean! The catch

Forward Movement!

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 differnt countries.  A simple share fr

Seeking Answers

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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 for a walk and stopped at a park.  He got