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.

Monday, June 28, 2010

Brother and Sister

I often wonder what kind of relationship Abby and Logan will have as they get older. I know they will have a special bond, but I wonder what we can do to help them build this bond, since Abby isn't able to play and talk like most kids. I worry that Logan will resent all the attention Abby gets, and he will not be as "careful" with her as he needs to be with her. I wonder if Abby gets jealous with the ease at which Logan is able to walk, run, jump, climb, talk, and the list goes on and on.

But then, as I watch them interact with each other, my crazy-worry-stricken mind is settled.

Sitting in the double stroller, Abby hits Logan on the head..softly....repeatedly. Being hit in the head is something that would be problematic in a typical family, but we are not typical (if there is such a thing), and Logan already knows that Abby doesn't mean harm with her hands. What might be hitting to other kids is playing to Logan. They both get a kick out of it, laughing out loud and feeding off of one another. It's funny how they are learning to play with each other.

Later, Logan pushes Abby's stroller at the park and reaches out to help her off the slide. I am giving him the benefit of the doubt when I say he was helping her off the slide, and not pushing her off the slide,as it just sounds better, honestly. Either way, he is a sweet little guy and a great little brother.

I'm sure they will both do many not-sweet things to each other, but that actually is typical.

Tuesday, June 22, 2010

We finally got a little information about Abby's falling spells yesterday. I emailed a video clip of an episode to Jane Lane a while back, and she and Dr. Percy got back with us last night. Dr. Percy and Jane Lane run the Rett Clinic at UAB that Abby visits twice a year. They are both experts in all things Rett. It's amazing how well they both "get" our girls(and boys).

After watching the clip, they agree that the spells are not seizures. They are a conscious loss of tone, and are common with Rett. Sigh. Have I said that I hate Rett Syndrome yet today? Probably so, but not in writing. Anyway, Sometimes theses spells are referred to as melting spells. Unfortunately, we still don't know how long they will last, but we're relieved that we can rule out seizures and other medical problems that would cause her to fall. All we can do is work with her therapists to help her regain the strength and balance, and hope the drops are just a phase.

It's hard to just write something off as a "rett thing". Maybe it's still a little denial, but Im always trying to make it something else, something fixable. All these little "rett things" make her diagnosis that much more real. Now that we have some answers though, maybe I can stop obsessing about her walking and her lack thereof....maybe.

Saturday, June 19, 2010

workout time!

Last night, we bought a treadmill for Abby. We have been looking for one that we can prop the back up, so that it mimics walking downhill. Most new ones will stop if they are not lying flat, so we found an old one for $60 at a used sporting goods store. Yay!

Since she's still unsteady, I am just having her walk for a few minutes on it a few times a day. When she starts walking like she used to (which she will soon, hopefully), we will try walking downhill. We are having her practice the movement of walking down steps by walking downhill on a treadmill. At the conference, a presenter said that walking on a treadmill showed the same results as a session of physical therapy in a study they did with girls with Rett. Abby doesn't mind it, especially if she can watch a video while she walks. While we will always support her at her waist her arms, I do want to make something to go in front of her to hold on to. Maybe I can tie something to the handles, which are way too far apart for her to reach right now.

It does seem funny that she is the one person in the house that we want to gain weight, and she is walking on the treadmill.

Thursday, June 17, 2010

Today, I took Abby to her doctor.....again.  It's almost embarrassing how often we are there with weird issues. They're really only weird to anyone without a child with Rett.  For those of you who have been to these such appointments, you know the feeling.  There was the "she will swallow food, but not saliva" and the  "she has been scatching her diaper area for a year, but there's no rash".  There really are not any easy fixes to these problems, once the typical remedies don't work.  Today was another walking issue.  I even brought props with me to the appointment.  I used the calendar to show a timeline of when the craziness started happening and showed a video clip on my Ipad of Abby having a drop spell.  Since I have no idea what is going on with her, I have to explain every relevant piece of information that I can think of.  I think if I give him enough information, he will find a problem, and we can fix it.  Today, my explanation went something like this:

She started "dropping" a week after her immunizations.
She had knots in her legs after the shots. Any relation?
She only does it when she is bearing weight on her legs. 
It usually happens when she has been sitting or laying for a long time.
Since she started having "drops", she has been very unsteady and walks only with assistance.
The neuro thinks they are drop seizures and increased her medicine, making her even more unsteady. 
She maintains eye contact and smiles while she drops.
She drops 3-4 times a day, for the past month.

This is the point where her doctor checks her reflexes in her legs, asks me a few questions, and gets Abby to walk around the hallway.  His take on the situation:

She is not having atonic seizures, and can return to her normal dose of Keppra.
She is not having a complication from the immunizations because she is having normal reflexes in her legs.
The problem is that she has Rett Syndrome, and abnormal motor function can happen.
He sugguests some therapies to help loosen her leg muscles, and recommends seeing her orthpaedist again to evaluate her gait.

What do you do with this information?

Tomorrow, I will make an appointment with the orthopaedist.

Tonight, I will pray for a cure for Rett Syndrome, and rejoice in the fact that the broken body that Abby is trapped in now won't be the one that she spends eternity in.         

Friday, June 11, 2010

Abby's pick

So, tonight we decided to go out to get a bite to eat. As I was getting Logan ready, I heard Wes asking Abby about her day. He then asked her what she wanted to do for dinner. He held up one hand for yes, and the other for no.

It went like this:

Do you want Salsaritas? No
Do you want to eat at home? No
Do you want to go to Chick-fil-a? No
Do you want McDonalds? Yes with a big smile!

What? I didn't think she liked anything at McDonalds. In fact, when we go to the play land, I pack our lunch, partly because I'm cheap and partly because I very much dislike McDonalds.

Anyway, when Abby communicates something so clearly, it would be a crime to ignore it. So, it was McDonalds for dinner, much to my dismay.

It turned out to be a good choice. She ate every bite, especially the apple pie. The girl knows what she wants. It's so awesome to see her able to express it. Go Abby!

Tuesday, June 8, 2010

This was the first day since school got out for Abby that we have all been home. Abby had a great day, playing outside and hanging out with Logan and their friends, Eliana and Joshua. I wasn't sure how happy she would be about not being able to run around and splash in the water tables, but she surprised me. She really enjoyed sitting in a little chair and splashing her feet in the water. Of course, the other kids filled buckets and cups of water that were sitting in her lap, so she got to splash her hands in the water, too.

Abby is still unsteady and had a few "drops" today. The neuro wants to increase her evening dose of Keppra, since most of her drops have been in the morning when she first wakes. After I described what she does, the neuro seemed sure she was having atonic, or drop seizures. They said that Keppra should stop them, so she doesn't have to add another medicine. Thank goodness. Hopefully, the increase will stop the drops without any other side affects.

Abby, Logan, and Eliana jamming with the drum set

Monday, June 7, 2010

Home at last

Wes and I are finally home, after 9 days away from Abby and Logan. After the conference in Colorado Springs, we spent a few days with my brother Patrick, and my sister-law, Teresa, in Estes Park. We had an awesome time, but we're so glad to be home with the kids!

Abby had a great time with my parents. She has them (and everyone else) wrapped around her finger. We are so blessed to have so many people who love our kids and wanted to spend time with them while we were gone. It's a great feeling knowing that they are so well cared for in our absence.

I was hoping Abby would be walking normally when we returned. She has been having some unusual walking spells for the past couple weeks. Abby has lots of unusual spells that often disappear as suddenly as they start. I was hoping this was one of those kind of spells, but now I'm not so sure,

Typically, Abby can walk independently on an even surface. She loses her balance sometimes, but she doesn't fall often. Lately, however, she has been abruptly collapsing a few times every day. Her knees seem to buckle, her head drops, and her arms fall. It looks like she is having atonic (drop) seizures. Obviously, she needs someone to hold her hand at all times, as these drops are completely without warning. Even when she does walk, her balance is very poor and awkward. If she is having seizures, that would explain her tiredness/weakness and loss of balance. I have called the neuro and I'm waiting for a call back. From what I can tell, the medicine she's on for tonic seizures does not stop drop seizures, so it may mean she needs to add a different medicine. Ugh! I hate Rett Syndrome something fierce!

Despite the (most) recent issue, Abby has been in a great mood. She has been laughing all day and is super cuddly. She was even happy to work on her belly and the therapy ball. Go Abby!