Still the only one?

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 single mutations are rare but known, statistically we have been told we had a better chance of winning the lottery than having a child with someone else with either of these mutations. At this time, we still are unsure if there are any others with this disorder.  We were informed by the NIH there may be 1 other child in Canada however they have been unable to get much information from them. 

Asher is 9 years old now and in the 4th grade.  Asher at first glance appears to be a "normal" 9 year old. He is still walking, running, jumping, playing, etc. He is a very curious person, always trying to figure out how things work and what each button does, especially his father's. He loves to make people laugh and a good cuddle.  He is also very strong willed, which I have to frequently remind myself serves him well when applied appropriately.  I believe this is partially why he is still doing as well as he is doing. 

His ataxia has progressed since my last posting.  His hands tremble much more frequently and school has moved away from having him write with paper and pen to using the computer to type or use talk to text software. He also has ataxia of speech.  He is still able to be understood but his speech pattern is slow and sometimes has difficulties with pronunciation. His gait seems to be stable at this time and has not had many problems since the initiation of some of his medications, in fact he is doing so well he is not having to wear his orthotics!

Asher really struggles in school. It is difficult for him to perform tasks that cross back and forth across the brain (right side to left side and vice versa).  This encompasses so many things such as reading, writing certain letters/numbers, being able to tie his shoes, etc. Thus he gets pulled from class frequently to the resource room making it difficult to still make him feel "part" of the class.  His school and teachers are doing a tremendous job with him!  I can not say enough good things about them! They do whatever they can to make him feel part of the class and utilize the learning style that works best for him.

Since my last post, we have not received any official results from the NIH study. Recently we were told it will be soon and they were deciding on how best to proceed with the information, including informing us in a manner we can understand. I also have been contacted by a couple of other researchers and they are also doing some work on the subject.  I feel blessed to have a few different studies going however I know this last year have delayed some of the progress.

In light of all this, I try to hold out for some hope.  Hope of any more understanding and answers. Hope of a name for this stupid disease/disorder, you wouldn't believe the relief of giving it a name vs this calling it this vague disorder would give to us.  Hope they will then be able to put it in the official genetic database for other researchers instead of only being listed as a candidate gene. We would then have a real chance of finding others out there.  Lastly the hope for a slow progression and a happy meaningful life for my son, whatever that may look like.