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.

Saturday, January 30, 2010

Chuck E. Cheese

We went to Chuck E. Cheese today for a birthday party. Everyone had a great time playing and eating pizza. Of course, all the comotion was a bit much for Abby, so she spent much of the time watching her movies with her Papaw.

Abby found a comfy spot on Papaw's lap.
Logan loved all the action!
Happy Birthday Kaden!!!

Friday, January 29, 2010

Abby seems to be feeling better. She is over the stomach virus and the bronchial infection. She hasn't had a seizure in 3 days. Yay!!! In fact, she is sleeping right now, in a room all by herself (for the first time in 2 weeks). Of course, we have invested in video monitors to keep an eye on her while we are awake and she is asleep. It's not a perfect system, as we still don't know how to let her sleep in her room while we are sleeping in our room. We definitely wouldn't hear her seize, and of course, we wouldn't see it on the monitor while we're sleeping. These past few weeks have been the first times she has ever slept in our bed. She really likes her bed in her room. We all like her in her bed in her room. Three is definitely a crowd. I'm sure she is more than ready for me to give her some space. She doesn't need to say it, her face tells it all. It has "mom, get a life" written all over it. That's my girl.

Abby did much better sitting up today. She can sit up for about a minute without falling, which is a big improvement from earlier in the week!

Monday, January 25, 2010

We are trying to get used to our new "normal". We still get upset when she seizes, but not as much as before. When a child is sick, seizures are more difficult to control. We are hoping that is just the case with Abby. She is having a few seizures when she sleeps, but much fewer than last week. We think that they will stop when she gets over her bronchial infection and stomach bug. That is our hope, anyway. We are very new to this, and aren't really sure what to expect. Should we expect for her to have no seizures at all when she takes the right medicine? The most upsetting thing is that she is still so weak, unable to walk or hold herself up. While we expect for her to gain her strength back, it's hard to see her so helpless. It's also a little tricky taking care of miss Abby and Logan. Since she usually seizes when she sleeps, someone has to be with her when she is sleeping. We are so thankful that Abby's Nonnie has come in town to help out. My mom had Logan last week while we were at the hospital, and now Nonnie is staying with us. It's great having so much help and support.
We love having Nonnie stay with us. We sure will miss her when she goes back to Texas!

Friday, January 22, 2010

It has been a crazy week, to say the least. Abby went to the doctor on Wednesday with a bronchial infection. After talking to the neuro about the fact that she was still having seizures every time she fell asleep, he admitted her back to the hospital. He told us she would be directly admitted, but he did not send the referral to the hospital, so we had to wait for 5 hours before getting a room. There are a whole list of ridiculous things that happened at the hospital this week, but I will not start venting or this post will take an hour to write.

I might just vent about one thing. We learned that hospital staff throw around the term "morning" for every time of day. Abby could not eat when we got to the hospital on Wednesday night because she was going to have an MRI the next "morning". In fact, the MRI was going to be at "about" 1:30 in the afternoon, so Abby also couldn't eat on Thursday morning either. After talking to the doctor at 1:00, they realized she didn't need an MRI at all. It's a good thing she went 20 hours without food or drinks. Anyway, I am not going to vent. Abby's seizures on Wednesday night did not stop until she was given Ativan at 5am. We were frustrated that we were sent to the hospital by her neurologist, but they apparently were not expecting us, and didn't have any particular orders from the neurologist who sent her.

On Thursday "morning", the doctor doing rounds was Dr. Puri. We had a consult with him when we got Abby's diagnosis. He has treated many people with Rett, and was so great with Abby. He knew exactly what to do, and it worked. He gave her a different medicine last night, and it was the first night she has had without a seizure in a week. I am now his biggest fan. We are so much more comfortable after talking to him. She will have seizures again, maybe even tonight, but we aren't so scared now and we know what to do to get them to stop. We have been extremely concerned that Abby hasn't been able to sit up, or bare weight on her legs she her first seizure last Friday. He assured us that, though she is very weak now, the seizures should not have any permanent affect on her ambulation or balance. It's a relief to know that Abby will get back to herself soon. Thanks for all the prayers and encouragement. We are glad to be home just in time to celebrate Logan's 1st Birthday.

Wednesday, January 20, 2010

Unfortunately, Abby is still seizing when she sleeps, is falling asleep, or waking up. She had a really rough time last night. She had 4 within a couple of hours, so we called the on-call nuero, who increased her meds again. She continued to have a seizure every couple of hours until she woke up. She sleeps reasonably well, only waking while she seizes. She just looks so pitiful when it happens. It breaks my heart. She also coughed a lot during the night, so I took her to the doctor today to check it out. It turns out she has a bronchial infection. That could be what triggered the seizures, or what is causing them to persist. If I am told that neurology is not a "perfect science" again, I am going to scream!

Monday, January 18, 2010

We have known since Abby's diagnosis that the likelihood of seizures was extremely high, especially as she got older. I have been thinking about the possibility a lot lately because the onset is often around 4 years old or older. Even so, it took me by surprise when my little girl started seizing on Friday. At first, I thought it might have just been a tremor. I read a little about them in my Rett Handbook before the next one hit about an hour later. By that time, there was no doubt what it was. Abby had 5 seizures by the time we got to Kosair Children's Hospital, and another 3 while we were there on Friday. The next 24 hours were without seizures, thanks to the high dose of medicine that she was given when she was admitted. Though there were no seizures, the was also very little sleep and definitely no smiles. One side affect of the medicine was agitation, and Abby was feeling it pretty bad. When it wore off on Saturday evening she was much happier, but began seizing several times a day, and continues to do so. She seized about 5 times last night, and once during a nap today. Her medicine is either not all in her system yet, needs to be changed, or she needs more of it. It was raised this morning and I suspect when we talk to the doctor tomorrow, it will be raised again. This has been a very scary weekend for all of us. Thanks for the messages and prayers. We definitely appreciate it. Abby is blessed with so many people who love her. I don't know how we would get through all this craziness without you. We aren't sure why this is happening to Abby, but it's a relief knowing that God is in control. Despite the seizures, Abby has been in a great mood this evening. Hopefully she will have a restful night!

Abby had an EEG while at the hospital. Thankfully, she was asleep (because they needed her to be still for 20-30 minutes). If you know Abby, you know how difficult that can be. People with Rett typically have abnormal EEG's. Abby is no exception. It showed a lot of spikes coming from different areas of the brain. Her neuro said it is likely that these were not her first seizures, and that she probably has been having them while sleeping. He also said she will most likely have to be on anti-seizure meds indefinitely. Not the best news ever, but at least the seizures are usually manageable with the meds.

Abby was happy when we brought some of her favorite toys to the hospital.

Thursday, January 14, 2010

Abby had a Barium Sallow Study today. I'm so happy that it was normal! She ate and drank all the different consistencies without any problem. She didn't even flinch at the barium, probably because she was so hungry. Unfortunately, the study did not include an upper GI like I thought. Apparently, infants can get them both at the same time because they are so small. I wish I was given this info. beforehand, and I would have scheduled the 2 different tests for the same day. Oh well, I can't complain after getting results that say "normal".

Sunday, January 10, 2010

Wes just got an app on his iphone that allows him to make videos. They aren't the best quality, but it works. I am trying to figure out how to put them on a video bar.


Remember to vote again today! You can vote up to one time every day. Rett Syndrome Reversal is the photo of a couple holding a baby (on the 5th page).


Friday, January 8, 2010

Rett Clinic

Abby had her appointment at the Rett Clinic in Birmingham this morning. The appointment went really well. She looks so darn skinny, but she has actually gained weight. She has also grown 9cm since her last appointment in June.

It's always nice to talk to Jane Lane and Dr. Percy. They have so much experience with Rett Syndrome. They gave me some great ideas for her to work on with her OT, and encouraged us to continue trying to get her to finger feed. Last December, she was able to pick up goldfish or snacks and put them in her mouth independently. She would miss sometimes, but she did very well. Over the past year, she has almost lost the skill completely. She reaches for the snack, but she doesn't seem to be able to close her hand to pick it up. Her hand function has decreased quite a bit. Jane suggested working those skills with her hands that she was once able to do more often than working on skills that she has never mastered. It makes sense that she would be successful at those skills first. I honestly had resigned to the fact that she wouldn't be able to do it anymore, so it was the encouragement we needed to start practicing again.

We also talked about her reflux. They suggested we get an upper GI done to check out what is going on, in addition to the swallow study she is doing next week. They will both give us information about her digestion. I'm just happy that, despite the fact that I don't know what to feed her that is not going to upset her reflux and that will help with weight gain, she is still gaining weight.

Anyway, two days of driving has worn everybody out around our house. Abby liked having her video in the car, but not for 7 hours. She was very glad to get home and play with her toys. I think was having withdrawal from not being able to push any of her buttons. The clinic is great, but it's definitely good to be home.

Wednesday, January 6, 2010

Here's another easy way to help raise money for Rett Syndrome Research. Check out this contest from the Extraordinary Measures film. It raises awareness for rare diseases. The cause with the most votes will win $10,000 for research. You can vote up to one time every day. Rett Syndrome Reversal is the photo of a couple holding a baby (on the 2nd page).


Thanks Nonnie and Papa Dave for the Idog! Abby can't get enough of it. She likes touching it's face, and hearing it "sniff" her. It's great because it plays her favorite music.

Abby was so excited to be back to school yesterday. She was all smiles as we were getting her ready for the bus. She had a good day. Of course, she slept on the way home. She gets sleepy enough for a 10 minute nap on the bus, but not enough for nap after lunch. I think we need to have a talk about the difference between a blink and a nap.

I spoke with her doctor about her reflux issues, and he scheduled a swallow study for next week. That will show if there is any problems with chewing and swallowing. It's a pretty simple study. She will eat different textured foods that are coated in barium. They watch what is going on inside her body on a monitor. An SLP will be there with us, and will show me what's going on as she watches the video. Hopefully, it will just show that everything is working the way it is supposed to and we can look into other causes for her spitting up issues.

Sunday, January 3, 2010

Abby was pretty tired today. She had a rough night last night. She got sick several times in her bed while she was asleep. I'm still not sure what the deal is with that, but it is quite an ordeal getting her a bath and back to sleep three times. She doesn't do it at all during the day. I thought it was reflux, which is worse when she lays down, but one time she was asleep sitting up with us. I will have to talk to her doctor tomorrow. We haven't seen a GI doctor yet, but I think it's just about time. It is such a minor issue compared to the other GI issues that are common in Rett. I am so thankful that this is our biggest concern with her eating. Many girls have difficulty even chewing and swallowing. I'm not sure what a GI doctor can do with kids her age, but it would be nice to explain what Abby is doing and see what he/she thinks. Maybe it is not that bad, but her pain tolerance is pretty high and she can't tell me how she feels, so it's better to be safe than sorry.

Saturday, January 2, 2010

Go Cats!

Whether its a commercial break or not, it's time for a story when Abby pushes her book button.

Logan and Aunt Teresa

These games are just too long!

Friday, January 1, 2010

Happy New Year!

I hope everyone had a great Christmas! Abby has really enjoyed her break from school and therapy. She loved visiting with her Nonnie and Papa Dave, who came in from Texas. We can't wait until they move back!!! She has been a bit moody the past couple of days though, so I think she is ready to get back into her routine. She's getting a little bored with us at home. She does seem to like her new toys. She especially likes to touch the Idog and see the lights blink. We got her some drums, but she hasn't paid much attention to them yet. It sometimes takes her a while before she will try a new toy, so we'll have to wait to see if they ever interest her. Of course, she loves her Little Einstein movies. We are trying to limit how much time she watches them during the day, fearing that she will have withdrawal when school starts and our schedule doesn't allow so much down time. She might also have a difficult time not being able to sleep in. Yesterday she slept until 9:30! I could get used to that.

We are going to the Rett Clinic in Birmingham on Friday to see Dr. Percy. I'm looking forward to talking to him about Abby's reflux. She has vomited a few time during the middle of the night over the break, even though she is taking Prevacid to control acid reflux. We have also had to stop giving her so many high fat foods to prevent her from spitting up, especially in the evening. I weighed her this morning and I think she has lost at least a pound. Dr. Percy was a little concerned about her BMI in July, so I hope it hasn't dropped more this time.

Our New Year's Resolution: Abby will eat more. I will eat less.