Down syndrome from a father's perspective.

Down syndrome is one of those things you forget but are then reminded about

Atlantoaxial Instability

I would not normally be writing a post so soon after my last one but I am finding some therapeutic benefits to this process.  As you know, my last post centered around Treyton’s visit to the doctor to get some x-rays.  They were checking for atlantoaxial instability which occurs in about 15% of kids with Down syndrome.  My post was actually more about the doctor than it was the reason for the visit.  Today’s post is different.

HWS seitlich Annotation

By Hellerhoff (Own work) [CC-BY-SA-3.0], via Wikimedia Commons

One bummer of a phone call

Just before supper last night the kids and I were sitting around watching the Olympic swimming trials while Leigh Ann was taking care of the last few details for supper when the phone rang.  Leigh answered it and I could immediately tell it was the doctor calling with the results from Treyton’s x-rays.  It wasn’t the news we wanted, at all.

Earlier in the day Leigh called me and said she was concerned that she had not heard from the doctor yet.  I didn’t think anything about it, I could think of a lot of reasons why the doctor had not called yet.  I guess I was wrong.  The doc’s words were something like, “the x-rays looked suspicious and we need to make an appointment with an orthopedic doctor to get a better reading.”  There you have it, so far Treyton had missed most of the major health issues common to kids with Down syndrome but it is not looking like he is going to miss this one.

Brief overview of AAI

Atlantoaxial Instability or AAI is a condition caused by extra space between the first and second cervical vertebrae (see image on the right).  The concern is that with the extra space there is potential for the vertebrae to move slightly and damage the spinal cord.  This condition can occur in anyone but is also one more thing that is common in kids with Down syndrome (15%).

According to a 1985 study of AAI in kids with Down syndrome published in The Journal of Bone and Joint Surgery, a space of 4mm or less is considered “normal” with a space of 5mm being the absolute upper limit.  It is interesting to note that many professionals will admit that an x-ray is not the best method to diagnose AAI, but, it is currently the only method we have.  Also, as kids grow this issue can disappear or develop despite earlier findings.

Why am I so bummed?

I must say that last night’s phone call really bummed me out. So much so that it actually surprised me how much I was bummed. It often takes me a while to process my own feelings, to figure out what it is exactly that is bothering me. Last night I was just pissed. Why couldn’t something just be easy, right now it seems like everything is so damn hard and this is just one more thing? But I think it was more than just the additional bad news, it was the type of bad news.

In terms of the way that Down syndrome can affect the cognitive development of Treyton I have been okay with it. I believe that Treyton is very high functioning and even though it may take a little longer, eventually he will be able to catch on to almost anything. I am committed to working through that process with him and know that his mom and sisters feel the same way. BUT, this time it was physical. I think that is what bothered me. If Trey really does have AAI there is no level of effort and commitment that will be able to change the fact. Man that sucks.

Going forward

Leigh Ann could tell it was bothering me (something that is very unusual for me) so she did a little more research. The reality is that even if my little man has AAI it will not be a problem for him. Some believe that people with AAI are more at risk for neck injury but there are others starting to realize that the type of accident that would make AAI an issue would likely be a problem for everyone, even if they don’t have AAI.

Obviously our primary concern is Treyton’s well-being. After a second conversation with the pediatrician later last night, Leigh Ann is confident that Trey will be fine. It seems that most experts are realizing that most cases of AAI are asymptomatic. But that doesn’t mean people won’t hold him back because of this. At this point it seems that our biggest concern is that if Treyton does have AAI it will be another label people can put on him. Please pray that does not happen.

Rob Arnold has been married to his high school sweetheart for almost 19 years. Together they have three daughters and one son. He earned his bachelor's degree in General Business from Grand Valley State University as well as an MBA in Strategic Management from Davenport University. He enjoys reading, hunting, scuba diving, and spending time with his family.