Hello. My name is Abby. I'm eight years old and I was diagnosed with Rett Syndrome when I turned two. My parents work hard to help me make sense of the world around me and this blog is meant to help others understand my world and my journey with Rett Syndrome.

Tuesday, October 18, 2011

Abby stayed home from school today so that I could monitor her seizures.  She had been having one every morning last week, and then they increased over the weekend. On Monday, she vomited at school.  When she has an increase in seizure activity, it isn't unusual for her to vomit.  Also, if she was getting some sort of stomach bug, she would have seizures.  That makes it difficult to determine the cause, if there even is one.  She seems to be in a pattern where she has about 3-4 weeks without seizures and then she has a week or so with daily seizures.  I expected to spend the day at home, recording anything unusual on my phone so that I can show it to her neurologist later this month.

I had my phone ready to record Rett episodes all day, but nothing crazy happened.  Instead, I got a photo of Abby not doing anything too crazy at all, which was nice.  Well, now that I look at it, her lips aren't exactly pink, but that's okay. It was a nice day.  Tomorrow will tell if this seizure "phase" is over.  

If anyone has any insight into these seizure patterns, I would love to hear it.  I don't think there is a trigger.  She does well for several weeks, then she starts having a seizure or so every day for 4-7 days.   Those seizures are all short, about 20 seconds.  She stops breathing, lips turn blue, non responsive, eyes roll back or stare, her tongue is doing something weird (i can't really tell what, but it sounds like something is happening in her mouth), and she sometimes vomits.  When it's over, she is out of sorts for about 15 minutes (very jumpy and limps are flailing) and then she sleeps for about 30 minutes.  When she wakes, she is back to normal.  I haven't caught these episodes on an eeg.  Has anyone's daughter experienced similar episodes?  We've increased her Keppra, but they still happen.  We have also given her Klonopin during the week when she has these episodes, but it didn't stop them either. I think we may need to get them on an eeg before attempting to increase meds again, or just deal with them. She sees the doctor in a couple weeks.  

My post was going to be about how nice the day was because I was expecting to have to deal with seizures, but instead we spent the day hanging out and later listening to a webinar about the IGF-1 trial.  I got a little sidetracked. Even though she didn't have any seizures today, they seem to still be on my mind.

Friday, October 14, 2011

Device Update

The process of getting an eye gaze device for Abby has been painfully long, but we are getting very close... I think.  First, we had to get the trial approved by both our insurance and secondary insurance.  That took forever.  It took a while to actually trial all the devices.  Now we have made our decision and we're again waiting for approval for the purchase of the device.  Yesterday, I am happy to say, we received our approval from our primary insurance company!!!  It should have been a given that they would approve the purchase since they already approved the trial, but I was still holding my breath that it would work out.  As it stands now, we are just waiting on approval from her secondary.  That was the longest wait for the approval for the trial, but at least it is the last part of the process.  As soon as they approve, which they should since they already approved the trial (and it was successful), we will get the device.  I hope that PRC has a device available and we don't have to wait a long time to get one shipped.
Now that we have decided on the device, we made a low tech communication system using the symbols that will be on her talker.  It is not a perfect system, but it will keep her familiar with the symbols while we are waiting on the device, and it will give her a way to communicate that is similar to the talker.  Even when she gets her talker, she will need a low tech way to express herself using the same symbols for those times when her talker isn't working properly, or if we don't have it with us.  This is the first time we have used these particular symbols for anything other than the eye gaze device trial.  When I showed it to her, she looked super intensely at the "home screen" symbols.  I think she was expecting some sort of voice output (other than me) when she looked at the symbols.  I'm sorry Abby, but we're working on it!

Thursday, October 13, 2011

Laughing is better than crying, but...

sleeping is even better than laughing (in the middle of the night, anyway). I love to hear her laugh, but I don't love this laugh as much as her real laugh.  This laugh is the anxiety laugh.  It happened first when we gave her Claritin when she was 2. We thought the meds would make her drowsy.  It didn't.  It made her laugh hysterically for hours.  It was funny, but really weird.  She was out of control.  Since then, she has nighttime laughing a lot.  Most nights she wakes up laughing once or twice, sometimes for a few minutes, sometimes up to an hour.  I guess this is a Rett thing.  She is in her room in the dark in the middle of the night laughing hysterically.  I like to hear her laugh, I really do.  We've had lots of nights of crying, and this is definitely better, but I would rather she be sleeping peacefully.  Better yet, if she is laughing, I want to know what is so funny.  Then, I could laugh too.

Saturday, October 1, 2011

Abby does things that surprise me every day.  Sometimes they seems small, like starting to lift her foot up to go up the stairs.  Sometimes they're big.  Today, it was a big day. Fall is here, and though it was a little cool, the sun was out and the leaves are beginning to change, so we couldn't resist taking the kids to go hiking.  As you can imagine, we don't go on long hikes, but it's nice to just be in the woods.  Lately, Abby and I walk around at the trailhead with her wheelchair, and Logan and Wes run through the woods.  Today, however, I noticed that the trail was only going to be 1/2 mile roundtrip.  It was uphill for the first half, and down hill on the way back.  At the risk of carrying Abby uphill for the entire walk, we left her chair in the car and only grabbed her harness.  I thought that she would walk for a while at least, and then we could carry her or head back to the car when she stopped walking.  She does very well with her harness, but she doesn't have a lot of endurance and she sometimes goes limp when she gets anxious.  Much to our amazement, she walked up the entire trail with a huge smile on her face the whole way.  When we got to the top, she was out of breath.  She was breathing heavy and fast because she walked a quarter mile uphill, not because she has irregular breathing.  I don't think I have ever seen her out of breath out of exhaustion before.  Her body having a typical response-that's not something that we see every day.  Anyhow, after catching her breath, we turned around and she walked all the way back!  

She rocks!   

I think there will be many more trips to this forest.  I love paved trails in the woods.  Dirt trails with roots and rocks are tricky for unsteady little ladies.  When she gets unsteady, she gets anxious.  When she gets anxious, she collapses (hence, the need for the harness).  When she collapses, she needs to get regulated again before she can bear weight on her feet.  Paved paths may be just the thing for us this fall.  

With this being RS awareness month, I will focus a lot of my attention, and the attention of others, on Rett Syndrome.  This is a good thing because we need RS in the public eye to get the support needed to fund a cure and help our girls.  Sometimes it's hard, though, to be consumed with Rett Syndrome.  I hate what it is doing to Abby and all her friends.  I am going to take time this month to not only spread awareness, but also celebrate the amazing things that Abby is doing every day in spite of Rett Syndrome.  Maybe this will keep me from letting Rett Syndrome get the best of me this month.  On days like today, it is certainly not getting the best of Abby!

Rett Syndrome Awareness Month

It's October 1st, so let the awareness spreading begin.  IRSF has lots of creative ways to spread awareness throughout the month.  We'll be giving a few of them a try.  I have found all of Abby's purple bows and outfits, and we're on the search for purple nail polish.  I still need to print out a few pages of information cards to hand out during the month, but we're about ready.  Be on the lookout for the Rett Syndrome public service announcement on your local tv or radio stations.  Copies were sent to stations all over the county, and I'm hoping they are given air time.