2q23.1 Microdeletion Syndrome – Amelia’s Story – 2018 UPDATE

 

As many of you know, our sweet Amelia has a very rare genetic condition called 2q23.1 Microdeletion Syndrome or MAND, and it’s been a couple of years since I’ve typed up a written update.  So, what’s been going on with her in the past couple of years?  Well, a lot really.

 

She’s now 6 years old.  We still have her baseline frustrations of shaking, wobble-walking, and weird eye movements.  She’s still only sleeping through the night about as often as she isn’t but we do have some nights that we’re all able to get some sleep so, while it’s by no means perfect, I’ll take it.

Playing doctor at the Discover Center (her happy place) 🙂

 

She’s currently 2-ish deep down inside.  She’s gotten much better control over her emotions but we still have the stray “I NEED that toy” freak out…and it’s always about a toy.  The kid is absolutely smitten with them and even though we take a small pile of toys everywhere we go, sometimes it’s just not enough.  2-year old logic, right?

She continues to be very difficult to understand, although less so than in years past.  She still uses her body and sign language to speak but has been preferring words as her method of communication more and more.  She speaks like English is her second language (because it sort of is) so we’re working on that but, like everything else, it’s a slow process.

Pottery class. All the other kids spun bowls on the pottery wheel. Amelia spun a thimble. She’s so silly!

Her vision is also a constant frustration.  She’s losing the vision in her right eye (again).  We’ve spent many, many thousands of dollars trying to fix what ails her eyes but she always fights it.  Glasses will last a day or two.  A week maybe.  I think we had one pair last a whole month once.  She has been telling me that with her current set, she can see better without them so the script is probably off, again.  That right eye though, it’s always going for a wander.  Yet another thing that is so, amazing frustrating…and that I’m always working hard to accept.

So, medically speaking, not a whole lot has changed, and that’s ok.  We’ve exhausted every possible resource to find a potential cure or her quirks or heck, even reasonable treatment that is (A) within an hour-ish drive from home if it’s a multi-day a week therapy or within a day’s drive if it’s something we need to keep up with less often, and (B) something that actually works for her.  Since neither seems to exists in our little hole in the map, I’ve spent a lot of time becoming comfortable with the fact that some things just can’t be changed.  Some things are just crappy and they simply…are.  So, that’s where we are with all of that.

On a much more positive note,  Amelia is finally potty trained and hasn’t had a single accident since the week we officially started training her.  It’s a HUGE milestone for her and one that I honestly never thought she’d reach.  She took to it amazingly well too.  SO exciting!  For the first time in 6 1/2 years, I was able to remove diapers from my monthly Amazon shipment.  Woohoo!  I cannot even begin to explain how great that felt.

For the longest time, Amelia seemed to be stuck behind a cloud, if that makes sense.  Every so often she’d have a clear day where she seemed to really understand what was going on around her.  She seemed less confused.  But then the next day, and for months following that, she’d be stuck back behind that cloud.  It was so intensely painful to see her so full of life and seeming so…normal…just to disappear on us again.  That was such a big thing for so long.  Oddly enough, I don’t even remember when that cloud finally drifted away but it seems to be a thing of the past…I hope.

Since the cloud has lifted and speech has become easier for her, she’s been able to let her personality shine.  And do you know what?  She’s really witty!  She’s hilarious, really.  She’s always saying or doing something that keeps us laughing.  She’s silly and spunky and just a really fun person to be around.  She is as happy as a lark in the morning and carries a similar mood to bedtime.  She’s our little love bug and our ray of sunshine and we love her so very much.

 

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