Number 1 is the Loneliest Number- my son and ATG4D

In light of today being Rare Disease Day, I thought it fitting to do a MUCH needed update to this blog and a promise to keep it going. taken 3-2020 while on vacation   So many times have I sat down to write, so many nudges from God, and each time I was unable to do so. Maybe it was my way of living in a little bit of denial, making excuses of being too busy or what not.  To write this is to admit each and every time that I look at it or respond that this real and feel all of the emotions that go along with it. I could also blame my job and Covid 19 for the delay, as I am an Critical Care Nurse and we'll just say its been a difficult year. Whatever it may be, here we are today again wishing none of this was real but facing it and moving forward. So first off, for those of you who don't actually know me, my son Asher has a very rare neurodegenerative disease. In fact, he is the first person EVER to be identified.  It is a recessive disorder involving gene ATG4D. Both of our singl

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

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!

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!

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

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