Saturday, July 30, 2011

3 year check-up

July is wrapping up and it has been a great summer so far. I haven't posted in a few weeks, mostly because it has been relatively quiet. We spent a day at Martha's Vineyard visiting Gramma and Budda, Auntie Amy and Uncle Chris which was a wonderful day. Mer got to ride the Flying Horses, she went to a fair with Budda and painted a seashell and decorated a cupcake while Greg and I went with Chris to Menemsha to fish and hit The Bite for some chowder. We had a great time and it was a nice visit. Meredith has been doing very well in school and seems to really be loving it there. They are busy with activities and field trips. They swim and play in water at least a couple times a week. Meredith is always coming home with neat prizes from their projects; tie-dye T-shirt, a "lava lamp" the kids made for 70's week, an ice cube necklace, a flower wreath for her hair, cookies, etc.

Meredith has only had a handful of seizures this summer. All single seizures, no clusters. It's amazing. She has probably had a total of 4 in the last couple months, which for her, is just incredible. Her eye contact continues to improve which we are loving. She had her 3 year checkup this past week and weighed in at 28 pounds 3 oz. and 35 inches long. Her weight is no longer a concern which is nice, she's back up to a healthy weight. She's 20th percentile for weight, 5th percentile for height and still not on the charts for head circumference.

Developmentally, we are focusing more on communication and interaction. We have introduced the next level of switch play with Meredith. There are lots of websites and apps you can use with a switch on your laptop or ipad to play computer games. When she hits the switch, something squeaks, beeps, jumps, etc. She does great with it! She's definitely understanding now that when she hits that switch, she's making something happen. We also use flashcards to help teach her how to communicate with us and teach her how to make choices using eye gaze. We use yes/no cards and flashcards. "Do you want this? Yes or No?" We show her both cards and whichever she sets her gaze on, we go with that. We also use flashcards with pictures of familar objects and activities. This is mostly to help her make choices and help her anticipate what's going to happen next. "Would you like milk or banana?" We'll show her a picture of her tub and tell her, "we're going to take a tub now Meredith". "Do you want to play with Elmo or with the mylar?" You get the idea : ) Gross motor is still a struggle, but she does seem to be getting stronger. She's still can't sit independently or feed herself, but we're working on both. We desperatley want to get her off the bottle and are trying to train her onto a straw. We have not had much success here yet. She moves a ton and kicks around and flails her arms around, but there's not much control to her movements.

The other big development with us is that genetic testing is back on the table. At Meredith's last appointment with her Neuro, he mentioned that he'd like us to go meet with the Rett Specialists at Children's Hospital. Meredith has had genetic testing for both Rett and Atypical Rett and both came back negative. Clinically though, she seems to fit the profile for Atypical Rett. So we made our appointment (not until October) to go see those guys are are preparing ourselves for a possible clinical diagnosis. In the meantime we started googling around again on Atypical Rett and discovered that there is brand new science and testing being done on 2 genes specifically linked to Atypical Rett. We got in touch with the geneticist and they confirmed that Meredith has not had those 2 specific genes tested. So we quickly got the ball rolling with that, and she had blood drawn to test the FOXG1 and TCF4 genes. We don't know when to expect results, but the testing (which is only done in 3 places in the country) is being done right at BU, so hopefully it won't take too long. Somehow this time around it doesn't feel as scary doing these tests. I think we've just been at this a little longer now, and at this point all it would really change are 3 things: we could officially stop the hunt for a diagnosis which would just be nice, a diagnosis could potentially answer the question about whether this is a fluke that just happened or if either Greg or I are carriers of a gene, etc. and third, it would be a lot easier to explain to people what Meredith's condition is. It really wouldn't change much about our daily life at all. Well this post has turned into a real novel, if you've made it this far reading, you're probably ready for a nap. Signing off until next time where I'll post some pix of Mer's second field trip to Patriot Place to watch Tom Brady throw some practice touchdowns : )

Meredith Goes on a Field Trip

Two weeks ago, Meredith's class went on their first field trip. They went to Patriot Place in Foxboro and went to the movies! Mer saw her first movie - Mr. Popper's Penguins. She's wearing the tie dye shirt she made at school during 60's week.

Thursday, July 7, 2011

John and Matt visit from CA!

Wednesday morning my two brothers arrived from California for a much anticipated week long visit. We spent a lot of time together and even got to have a little sleepover with cousin Graham while John and Jackie met up with friends. Check out the pic of them snuggling during an Elmo movie. Having handy Uncle Matt around also meant we were able to get our swingset built - woohoo!! After a few days at home, we all headed to the Cape Friday night to continue the family vacation there. We visited with everybody, hit the local beach, went for a long bike ride, got the famous lobster roll at the Raw Bar, did a couple runs over to Popponesset Island and went to Nauset Beach and enjoyed the big waves. We celebrated birthdays for Matt and Dave, got in some good rounds of paddleball, played a little cards and played with snappers which always make me feel like a little kid. Family friends have a place nearby on the water and invited us over to watch the fireworks they do off their dock on Sunday. We were in for a treat!! These were no dinky fireworks - these were real deal, professional-style fireworks! It was really fun and they were kind enough to take us for a ride in the boat too. Thanks again Kathryn and Plato : ) It's been a great vacation so far. It's hot and sunny and Greg and I are enjoying our quiet time here now, just the 3 of us.