Tuesday, January 21, 2014

Update on the Family Part 2: Emmalina

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I was looking back over posts to figure out when my last update on Emma was, and found most of my recent posts had been about STX209.  So we'll start fresh today!

Emma will be two in about 2.5 weeks.  As you know from reading previously, we have had her in early intervention since about 6 weeks old.  She started with just physcial therapy and a general developmental specialist.  At 10 months we added in speech therapy and dropped physical therapy.  Now, at 23 months old we are doing one final evaluation for some sensory issues with an occupational therapist and as long as everything is fine we will be dropping all services.

Needless to say, developmentally, Emma is doing fantastic.  I don't know her exact age ranges for all the different areas but for speech she is around 24-26 months.  Her vocabulary is huge right now and she is making small sentences.  We are having her fine motor checked out with the OT coming, but while that is lagging a little right now I believe this is just due to her language exploding.  She has consistantly been ahead in one area and a little behind in one then will catch up in a month or two.  It almost always worries me, but she always catches right back up.

Our areas that have small concerns are sensory and anxiety.  She very obviously has sensory issues, but I'm not sure how severe they are.  (the reason I am bringing an OT in).  They manifest very differently than Ayden's issues.  He has tactile defensiveness, but also craves deep pressure. Emma does not like deep pressure and often will crave vestibular input (like spinning in circles, rocking in a chair, or hanging upside-down).  She doesn't want these all the time, but you can tell when she is upset she asks for those things.  She has aversions to loud noises like the vacuum and the food processor too.  The other difference between her and Ayden is that she fights and often overcomes any aversions she has.  We had to teach Ayden to calm himself and help himself work through (which he still does not do well) but she understands on some level how to do it.  All these sensory things are tied to anxiety as well.  She presents as very shy, but I can tell it is more anxiety of going up to a person.  For example, we can tell her to go hug someone and she will hang back and act as though she can't walk forward until they put their arms out - then she runs into them.  She doesn't talk much around people she isn't around often either.   All of these things I mention can be typical kid things, but together and because she does have Fragile X I believe they are more.  What I'm not sure of is if she needs any therapy to help with it.

In the coming month we will have an OT evaluation from EarlyOn, then she will have a full evaluation at our 24 month visit to UNC and also her evaluation from the team at USC (two research studies we are involved in from when she was 6 months old).  We also will be getting her FXS test redone with the more sensitive testing to find out her AGG repeats and methylation percentage.  The new test is part of one of the research studies (I will also be re-tested).  For now, it is nothing more than good information - but going forward (into family planning years) it will be good for her to have.  You can look for updates on all of our research studies over the next few months.


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