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, October 28, 2009

Today, we took advantage of the break from the rain and took a walk. We found a great trail not too far from our house, perfect for checking out all the fall colors before it's too late. We got some great photos of the kids. You wouldn't know it from looking at the pictures, but Abby was VERY upset when we started walking. Like, lets just go home, upset. After about five minutes, she was laughing. Her mood swings today are making me dizzy. She did the same thing at therapy this afternoon. She's ecstatic one minute, devastated the next. I have to remind myself that it is so much more aggravating for her not to be able to communicate than it is for me. But, my goodness, the mood swings.

Monday, October 26, 2009

We had a nice relaxing weekend. We usually read stories every night to help Abby and Logan get ready for bed, but for the past few nights, it hasn't quite worked out the way. Abby has been getting VERY giddy at bedtime.

Wednesday, October 21, 2009

After school today, Abby went to Kids Center to see Mrs. Linda, her OT. Abby is usually sleepy when she gets out of school, but not when she gets to Kids Center. She gets a sudden burst of energy. Abby likes getting a snack while she works on feeding herself, playing games, and working in their sensory gym.

Linda helping Abby hold a crayon.

No, Abby is not dressed up like a cat burglar, she is wearing a SPIO garmet. It's made of a lycra blend, giving her compression to help her body awareness, among other things. She used it last year, but I didn't see that it helped much. We are reintroducing it again to see if it makes a difference.

After working hard, Abby took a break in the ball pit. Even Logan got to play!

Abby got a new Tripp Trapp chair tonight. She has grown too tall for her highchair, so this adjustable chair is a good fit. She likes it already. What a big girl!

Monday, October 19, 2009

Abby was back at school today, after missing most of last week. She was very excited when she was getting ready (which takes forever to get all her gear ready to get on the bus) She was a little out of sorts at school, though. I think she just needs to get back into the routine after some time at home.

This morning, I was trying to get Abby or Logan to say "dada" on camera for Wes, since he has been out of town for a few days. Logan says it a lot, and Abby has been saying it more lately,too. I asked her to say "dada" and she did. It was very intentional. Usually it seems like she is babbling with or without Wes around. This time was different. It was very cute. I will post it when I figure out how to do a video clip.

Saturday, October 17, 2009

Abby is relaxing today after a busy day yesterday. Now that Abby is in school, we have less time to spread her therapies out. She goes to physical therapy every Friday. She works with the PT in the clinic for 30 minutes working on the treadmill, stairs, and transitions. Yesterday, she worked on gaining back skills like rolling over and standing up that she has lost since regression. She rides a horse with the PT for another 30 minutes. Being on a horse has helped Abby's balance and core strength tremendously.

After her (too short) nap, we went to her aquatic therapy. She is participating in a 10 week study to measure the benefits of aquatic therapy for children with autism spectrum disorders. This was only her second session, so she is still getting to know the therapists. Yesterday, they worked with her to bare weight on her hands, hit a ball, and float in the water. She enjoyed being in the water, but was tired. She was trying to rest her head on the noodle every chance she got. I think she was glad when she was finished and we visited with her Nanna and Grandpa. Friday's are going to busy for a while, but I'm anxious to see how she responds to the aquatic therapy.

Thursday, October 15, 2009

Abby is at home again today because she had a rough night last night. She is on medicine, which I think is keeping her up. She's not crying, but not sleeping either. I didn't want to send her to school sleepy, so she stayed home. I'm a little bummed because today was picture day and the first day her class gets to go to the pool. Her class gets to use the school's pool once a month. She loves the water, so she'll have a blast.

I am posting a photo that Abby's teacher sent home last week. She is using a spinning switch to say the (prerecorded) Pledge of Allegiance over the intercom at school. How cool is that? She looks like one proud little girl.

Wednesday, October 14, 2009

Abby was a little under the weather yesterday, so I kept her home from school to make sure she was feeling okay. She liked playing with all her toys and taking it easy. Her favorite toys are those that make music or light up when she hits them. She is not able to isolate her fingers well, so toys that she can push with her whole hand are the most fun for her.

Abby spent time practicing using an augmentative communication device to make choices of snacks, activities, books, etc. This is just one of the many ways Abby is communicating her needs to us. With so many unintentional hand movements, accuracy if often difficult, so we are still trying different devices and strategies to see what works best for her. Abby understands what we are saying and definitely wants to communicate, but her body makes it very difficult. She is doing such a great job and is so excited when she is able to show us what she wants.

Tuesday, October 13, 2009

How we got where we are now

Hello. Let me first tell a little about how we got where we are now. Abby was born April 13, 2006 a healthy beautiful little girl. She was everything we expected and then some. It was not until she was about 6-9 months old that we began becoming concerned about her development. She was a late crawler, walker, and the list goes on. I was assured, for a while anyway, that she was just delayed and that, with work and time, she would catch up. When Abby’s development continued to lag into her second year, we began the search to find the root of the problem. After a few rounds of tests at our pediatrician’s office, we were sent to a geneticist to run additional, more specific, tests. The geneticist did not expect any of the test to come back positive, and predicted that Abby had some anomalies that may result in learning disabilities to some degree, but nothing too severe. We were very shocked to get a call back telling us that Abby had tested positive for a Mecp2 mutation causing Rett Syndrome. After our next trip to the geneticist to get more information, we were devastated. The future for our little girl would not be anything like we had imagined. Not only would it be unlikely for her to gain additional skills, but also she would likely lose many of the ones she had already acquired. I knew God had a plan for Abby, but it was not going to be how I imagined.

A little about Rett Syndrome:
www. rettsyndrome.org

  • Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.

  • Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

  • Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

  • Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

My goal with is blog it to share what it is like for Abby and her family to live with Rett Syndrome. When we first got Abby's diagnosis, reading about other girls' journeys helped us prepare for what is ahead. I hope that sharing Abby's story is helpful to other families facing the same diagnosis as well as spreading awareness. I don't know what the future holds for Abby, but I know that a cure is a very real possibility. I hope our blog helps you understand more about Abby and gives you the motivation that we have to find a cure.