Saturday, January 30, 2016

Progress, or something like that

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.   ( 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 is, these samples are fragile so due to our cold climate can not be drawn until this spring and we have been warned it will take a long time to process the samples.  So, yea more waiting but it still progress none the less. We also have been warned the answers we get back from any type of research may still be more gray than black and white.  To which my answer is, as always, I have to at least try.
We also have come closer to setting a time to do a skin patch biopsy.  The materials needed have been collected and the pathologist located, who will also be working with a pathologist who worked on the project with the dogs.  The team will be sending pictures of the slides for their examination. All that is left to do on this, besides scheduling, is a little more back and forth between the docs on the fine details.  We hope to only do this once.
In the meantime, we continue to go to work, go to multiple appointments, therapy, and try to live a "normal" life. Asher again is showing great strides, thanks to his SMOs, in PT however has taken a backslide in OT.  His hands are weaker.  He also been more behavioral this week and we have the challenge of determining if he is doing this because of his difficulties, possibly pain, disease progression, or just being a 4 year old boy.  All are very possible.
Lastly, I just want to thank each and everyone of you for your love and support.  We could not have gotten this far without you.  Your willingness to simply share our story has made a big impact on our lives.  Thank you! We could not be more grateful!


  1. That's great to hear! I had actually sent an email to someone at UMichigan who worked on the ATG5 cohort because of the similarities. I didn't know they had publicized yet. I'm delighted that you have already connected with them!

    1. Thank you! We are very excited here and it sounds like they are too!

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