It's been a while....

Well, I unintentionally took about a 6 month hiatus from this blog. I'd like to say that was because nothing was really happening in our rare disease journey, but there's always something going on.

An update on Elliot:

Elliot has been doing well overall medically. We continue to do weekly speech and feeding therapy. We have taken a break from doing occupational and physical therapy but are considering restarting those services. I'm hopeful that Kidz Club will be offering those services again in house soon as this would be the easiest way to incorporate them again logistically. We've made some progress with feeding, Elliot is more consistently eating pureed food and we were able to see on his most recent swallow study that he didn't aspirate the pureed food. That was my biggest concern with trying to get him to transition more to that from his formula. We attempted to start potty training, he initially was interested and had some success but we've kind of fallen off on that. Sometimes we are just juggling so many different needs that balls get dropped and that's one of them right now. We also were approved for the Tobii Dynavox and got his new device and just haven't gotten into a good routine with using that yet, but he does communicate some of his wants with it (like what he wants to watch or eat). Some days I feel like I'm not doing enough and then I remember that most parents aren't doing half of what we are doing, it's just that Elliot's needs are more than what his peers are.

We also started the process of transitioning from KEIS over to early intervention in the preschool setting. We are planning on starting preschool in August as long as he continues to do as well as he's doing. Part of the process of this transition is setting up an IEP, typically this is specifically for developmental delays only but with Elliot we actually chose to do an IEP for other health impairment since that will last his entire education career versus those for developmental delays only lasting through the "developmental period" which is considered age 9 for these purposes. As a part of creating this plan, Elliot had a psychological evaluation with the school psychologist and a classroom observation. In all honesty, that meeting made me more emotional than I had anticipated. I know what Elliot's needs are- I'm acutely aware of it- but something about seeing it on paper was just hard. The school personnel definitely saw Elliot's potential, but those tests really just highlighted how behind he is. Right now his delays range from moderately to severely delayed. I know my education and experience in the mental health world has me more prepared to deal with that than most, but I'm sad that Elliot's life experience is going to be vastly different than mine or his dad's in a pretty substantial way. I just hope that when he's aware of his differences that we are able to be the type of support that he needs.

We met with Elliot's developmental specialist this week and Elliot has officially been given the diagnosis of childhood apraxia of speech. Apraxia of speech is a neurological disorder characterized by the inability to plan and coordinate voluntary muscle movements related to speech despite having the desire and physical capability to perform them. Elliot's apraxia is likely a result of his genetic condition affecting his brain development and negatively impacting motor planning. This specialist encouraged us to advocate for more speech therapy sessions in his IEP, request OT/PT interventions be provided by therapists and not teachers, and to request a safety person for Elliot while eating and while on the playground. So, we likely will be having more discussions with school about what his interventions and goals will need to be. She also encouraged us to get more training on the Tobii dynavox so we can work more with him on it.

We also did our quarterly routine abdominal ultrasounds and I'm happy to report we are still tumor free. I think this was the first time walking in the ultrasound room without anxiety, since his ultrasound at 7 months. I'm not sure if that it's just become so routine to me that it's not anxiety producing anymore or if I was just too exhausted by the time we did the ultrasound yesterday.

For those of you still reading, thanks for taking the time to read my thoughts about Elliot's journey. I'm happy to report that despite all the things we still are doing and have to do, that medically we are in a good place.

Non-medical update....we bought land! This has been a goal we've been working towards for some time now. Jack and I want Elliot to grow up with all the experiences we loved as kids, and being outside is a big part of that!.