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.

Wednesday, February 23, 2011

I should have known better than to assume that anything with Rett Syndrome would go the way that I expected.  We dropped Abby's Keppra a little to see if she could tolerate a lower dose.  She could not.  I figured that we would increase it to the original dose, and they would go back under control.  Seems reasonable, right?  Not so much.  She is having weird episodes several times a day and it has been a week on her original dose.  She stares into space for a moment and is non-responsive.  Then, her lips turn blue, she gets jittery and spastic, and then falls asleep for about an hour.  Weird.  I know that if I call the doctor, he will want to either have us admitted for a 24 hr EEG or increase her Keppra.  That was exactly the OPPOSITE thing that I wanted to happen when we tried to lower her meds.  Rett Syndrome is the exception to every rule and it's driving me crazy.  Its an unsolvable puzzle. The more I try to help, the worse things get.  How is that even possible? 

Saturday, February 19, 2011

We took advantage of the unusually warm February weather today and went to the park.  Abby really enjoyed getting outside for a while.  It seems like we have been stuck inside all winter.  I'm afraid these last few days are just a tease, but I am SO ready for spring.  

Abby is still having the occasional seizure, but they are not frequent and she recovers very quickly.  When she had them last year, it was weeks before she gained her strength back.  It is such a relief that these are not having such an impact on her afterwards.  Maybe because these have not involved convulsions?  She sleeps for about an hour, and then is back to herself.  I think they will subside once her regular dose gets in her system.

Thursday, February 17, 2011

At least we know..

After talking with Dr. Percy and our local neurologist, we decided to start weaning Abby off Keppra, her seizure medicine.  When she first started having seizures last January, she was fighting off a bronchial infection and a stomach virus.  She was put on Keppra right away, and after a couple of weeks of changing the dosage, her seizures stopped.  She has only had one episode in the past 12 months. We wanted to know if the seizures were only due to the illness.  If that was the case, she could go off a daily medication, and only take something when her immune system is compromised. It was a long shot, I realize.

We lowered the dose on Friday.  We were hopeful that she would at least be able to take a lower dose, but that's just not the case.  She started doing some crazy neurological things yesterday afternoon.  I figured it could be a coincidence.  She does have Rett, and there is a little crazy just about every day.  Today, however, she had a seizure at school and then another two this evening.  We went ahead and increased her to her previous dose tonight. It may take a few days for the increased dose to get into her system, so we'll see what happens tomorrow.

I feel bad that we lowered her dose now that I see that she needs it, but at least now we know.  We have never confirmed her seizures on an EEG, so I always wondered if maybe the were just a "rett thing".  Regardless of what they are, her seizure medicine makes them stop (which I guess confirms that they are seizures), so she will keep taking it at the dose that she was on before. Of course, the seizures now are completely different than the ones she had last year.  She's mixing it up a little bit this time.  Blue lips, vomiting, no convulsing, blank staring, and then sleeping. Please pray they stop quickly and the Keppra will keep them under control.

On a lighter note, Abby was super excited for her Valentine party on Monday. She was all decked out in her cupcake tights and sequined hat.   

Tuesday, February 8, 2011

Natural History Study

Abby had a visit with Dr. Percy and Jane Lane last week.  We see them every 6 months as a part of the Rett Syndrome Natural History Study.  They collect data on Abby and we get a chance to talk about any concerns we are having with Abby.  It's so great to talk to doctors/nurses who know Rett Syndrome.  I think Abby is developing a crush on Dr. Percy.  She giggles nonstop every time we see him.  She has a way of falling on people when she wants them to pick her up.  He had to hold her....a lot. She's a flirt.  

Overall, they think she is doing well.  Like us, they are excited for her to get an eye gaze device.  They want to check her calcium and vitamin D levels because she has had a couple fractures this year.  Although her anxiety has increased a lot this year, they don't think its at the point of requiring medication at this point.  Its good to know that they have seen success with medicine though, in case her anxiety worsens. I attribute a lot of her not-swallowing episodes and not-walking episodes to anxiety, at least partially....I think.  It hard to tell.      

There are some concerns that she is getting a curve in her spine.  Bummer. We know the likelihood of scoliosis in people with Rett is very high, but we were hoping to avoid it.  It doesn't seem to be the case though, as she is leaning quite a bit to her right lately.  She has an appointment for an x-ray scheduled in a few weeks.  Dr. Percy noticed that one of her legs appears a little longer, which could cause her to lean.  Hopefully that is the case, but an x-ray will give us a better picture of what is going on. There was another time that her doctor suspected scoliosis, but an x-ray showed that her spine was straight. I am really hoping that is what happens again!!!  

Another concern is her BMI.  It has been decreasing for a while, and is now 13.8.  We were told that it needs to stay above 13 to avoid supplemental tube feedings.  To keep it from getting that low, they suggest two nutritional drinks per day that are high in fat and calories (Boost Kids Essentials 1.5).  We have tried this before, but the high fat drinks aggravated her reflux.  We're hoping that we can increase calories and fat without causing other issues. We may have to adjust her reflux meds, but surely we can figure out a way to get some weight on little miss skinny.

It wasn't the "everything's looking great" kind of visit, but we got some good information and have a few steps to take to get things moving in the right direction.