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.
Abby's teacher emailed me this picture of Abby and classmate the other day. Aren't' they adorable?
I am so relieved that Abby is doing so well at school. First of all, she is just so excited and happy to be there. We run into kids all the time who say "hi" to her when we are out and about. It makes her giggle that she has so many friends of her own. We have been so blessed that she has always been placed with wonderful teachers who have her best interest at heart. I think she will be even more exciting when she has a communication device that will allow her to participate and communicate at a whole new level. After the holidays, PRC (the company supplying Abby's communication device) will be doing a training for Wes, myself, her therapists, and her teachers. That's a lot of people committed to helping Abby be successful with this device:) I think it will be coming SOON! That would be the best Christmas present ever!!! Well, not really. The best Christmas present ever would be a cure for Rett Syndrome, but a communication device would be pretty darn wonderful!
I haven't had much time to blog lately, but I do have a few photos to share. Abby has been doing well, just the usual Rett Syndrome stuff. We are still playing the waiting game on her device, but we're getting closer. We've increased her evening seizure meds quite a bit. Time will tell if the increase stops her morning episodes. We had a visit with our local neuro a few weeks ago and talked a lot about the current IGF-1 Trial. It's so exciting that doctors (not in the RS loop) are excited and knowledgable about what it happening at Boston Children's. He said that it's pretty "mind blowing"! The possibilities give me chills.
Abby is loving school, which is just wonderful. The best part is that the feeling is mutual with all her teachers and friends. They are crazy about her! She has been welcomed with open arms by everyone. I was so worried that she would have a hard time making friends, but that is just not a problem. Everyone knows Abby. Given the huge barriers that prevent people from being able to communicate Abby, I am so grateful for the special connections she is making at school. What a blessing!
This is a photo from her first field trip. She had a blast picking out a pumpkin and taking a hayride.
Abby and Logan were my little Supers for Halloween. Logan is addicted to sweets, so Halloween was just fantastic for him. Abby did much better this year, walking a great deal around the neighborhood. She, too, had her fair share of candy. I had two choices this year regarding Abby and trick-or-treating. If we pushed her in her chair, she could use a switch to say "trick-or-treat". We have done that in the past, and she really likes it. However, she also likes to walk (with help, of course) and that would allow her to go closer to the doors to get the candy herself. In the end, we let her walk without the switch. It wore her out, but I think she had fun.
A couple of weeks ago, Abby participated in an annual fashion show organized by the center where she receives some of her therapies. There were over 70 kiddos with special needs that participated in this year's show. Strutting out on the stage in their new digs makes everyone smile. It's a fun event. Abby had two escorts that made her feel like a princess.
I'm surprised I don't have any photos from Thanksgiving...not even one. I guess I was too busy eating, and keeping up with kids, and then eating some more. Anyhow, I hope you all had a very Happy Thanksgiving! We have the trees up and are gearing up for Christmas. Logan keeps asking me if Jesus is going to be here for his birthday party. I would love some help answering that one. I have yet to give him a satisfactory answer to the whole "but where are the pilgrims now?" question.
Tuesday, October 18, 2011
Abby stayed home from school today so that I could monitor her seizures. She had been having one every morning last week, and then they increased over the weekend. On Monday, she vomited at school. When she has an increase in seizure activity, it isn't unusual for her to vomit. Also, if she was getting some sort of stomach bug, she would have seizures. That makes it difficult to determine the cause, if there even is one. She seems to be in a pattern where she has about 3-4 weeks without seizures and then she has a week or so with daily seizures. I expected to spend the day at home, recording anything unusual on my phone so that I can show it to her neurologist later this month.
I had my phone ready to record Rett episodes all day, but nothing crazy happened. Instead, I got a photo of Abby not doing anything too crazy at all, which was nice. Well, now that I look at it, her lips aren't exactly pink, but that's okay. It was a nice day. Tomorrow will tell if this seizure "phase" is over.
If anyone has any insight into these seizure patterns, I would love to hear it. I don't think there is a trigger. She does well for several weeks, then she starts having a seizure or so every day for 4-7 days. Those seizures are all short, about 20 seconds. She stops breathing, lips turn blue, non responsive, eyes roll back or stare, her tongue is doing something weird (i can't really tell what, but it sounds like something is happening in her mouth), and she sometimes vomits. When it's over, she is out of sorts for about 15 minutes (very jumpy and limps are flailing) and then she sleeps for about 30 minutes. When she wakes, she is back to normal. I haven't caught these episodes on an eeg. Has anyone's daughter experienced similar episodes? We've increased her Keppra, but they still happen. We have also given her Klonopin during the week when she has these episodes, but it didn't stop them either. I think we may need to get them on an eeg before attempting to increase meds again, or just deal with them. She sees the doctor in a couple weeks.
My post was going to be about how nice the day was because I was expecting to have to deal with seizures, but instead we spent the day hanging out and later listening to a webinar about the IGF-1 trial. I got a little sidetracked. Even though she didn't have any seizures today, they seem to still be on my mind.
The process of getting an eye gaze device for Abby has been painfully long, but we are getting very close... I think. First, we had to get the trial approved by both our insurance and secondary insurance. That took forever. It took a while to actually trial all the devices. Now we have made our decision and we're again waiting for approval for the purchase of the device. Yesterday, I am happy to say, we received our approval from our primary insurance company!!! It should have been a given that they would approve the purchase since they already approved the trial, but I was still holding my breath that it would work out. As it stands now, we are just waiting on approval from her secondary. That was the longest wait for the approval for the trial, but at least it is the last part of the process. As soon as they approve, which they should since they already approved the trial (and it was successful), we will get the device. I hope that PRC has a device available and we don't have to wait a long time to get one shipped.
Now that we have decided on the device, we made a low tech communication system using the symbols that will be on her talker. It is not a perfect system, but it will keep her familiar with the symbols while we are waiting on the device, and it will give her a way to communicate that is similar to the talker. Even when she gets her talker, she will need a low tech way to express herself using the same symbols for those times when her talker isn't working properly, or if we don't have it with us. This is the first time we have used these particular symbols for anything other than the eye gaze device trial. When I showed it to her, she looked super intensely at the "home screen" symbols. I think she was expecting some sort of voice output (other than me) when she looked at the symbols. I'm sorry Abby, but we're working on it!
sleeping is even better than laughing (in the middle of the night, anyway). I love to hear her laugh, but I don't love this laugh as much as her real laugh. This laugh is the anxiety laugh. It happened first when we gave her Claritin when she was 2. We thought the meds would make her drowsy. It didn't. It made her laugh hysterically for hours. It was funny, but really weird. She was out of control. Since then, she has nighttime laughing a lot. Most nights she wakes up laughing once or twice, sometimes for a few minutes, sometimes up to an hour. I guess this is a Rett thing. She is in her room in the dark in the middle of the night laughing hysterically. I like to hear her laugh, I really do. We've had lots of nights of crying, and this is definitely better, but I would rather she be sleeping peacefully. Better yet, if she is laughing, I want to know what is so funny. Then, I could laugh too.
Saturday, October 1, 2011
Abby does things that surprise me every day. Sometimes they seems small, like starting to lift her foot up to go up the stairs. Sometimes they're big. Today, it was a big day. Fall is here, and though it was a little cool, the sun was out and the leaves are beginning to change, so we couldn't resist taking the kids to go hiking. As you can imagine, we don't go on long hikes, but it's nice to just be in the woods. Lately, Abby and I walk around at the trailhead with her wheelchair, and Logan and Wes run through the woods. Today, however, I noticed that the trail was only going to be 1/2 mile roundtrip. It was uphill for the first half, and down hill on the way back. At the risk of carrying Abby uphill for the entire walk, we left her chair in the car and only grabbed her harness. I thought that she would walk for a while at least, and then we could carry her or head back to the car when she stopped walking. She does very well with her harness, but she doesn't have a lot of endurance and she sometimes goes limp when she gets anxious. Much to our amazement, she walked up the entire trail with a huge smile on her face the whole way. When we got to the top, she was out of breath. She was breathing heavy and fast because she walked a quarter mile uphill, not because she has irregular breathing. I don't think I have ever seen her out of breath out of exhaustion before. Her body having a typical response-that's not something that we see every day. Anyhow, after catching her breath, we turned around and she walked all the way back!
She rocks!
I think there will be many more trips to this forest. I love paved trails in the woods. Dirt trails with roots and rocks are tricky for unsteady little ladies. When she gets unsteady, she gets anxious. When she gets anxious, she collapses (hence, the need for the harness). When she collapses, she needs to get regulated again before she can bear weight on her feet. Paved paths may be just the thing for us this fall.
With this being RS awareness month, I will focus a lot of my attention, and the attention of others, on Rett Syndrome. This is a good thing because we need RS in the public eye to get the support needed to fund a cure and help our girls. Sometimes it's hard, though, to be consumed with Rett Syndrome. I hate what it is doing to Abby and all her friends. I am going to take time this month to not only spread awareness, but also celebrate the amazing things that Abby is doing every day in spite of Rett Syndrome. Maybe this will keep me from letting Rett Syndrome get the best of me this month. On days like today, it is certainly not getting the best of Abby!
It's October 1st, so let the awareness spreading begin. IRSF has lots of creative ways to spread awareness throughout the month. We'll be giving a few of them a try. I have found all of Abby's purple bows and outfits, and we're on the search for purple nail polish. I still need to print out a few pages of information cards to hand out during the month, but we're about ready. Be on the lookout for the Rett Syndrome public service announcement on your local tv or radio stations. Copies were sent to stations all over the county, and I'm hoping they are given air time.
We have finally decided which eye gaze communication device we are going to get for Abby. We have had a brief trial of the Dynavox, a month with the Eco2, and couple of weeks with the Tobii. It wasn't easy to get a test of all 3, but our SLP begged and pleaded until the rep. just let us borrow one. The Dynavox was not a good fit for her at all. I don't know if it was her glasses or just the device itself, but we couldn't get it to do much of anything while it was here. She did great with the Eco2 and I really like the language system. The Tobii is also nice. It was easy to set up and calibrated to her very quickly. There are lots of girls who are having success with both the Tobii and the Eco2, so I wanted to be sure that we got the one the Abby would be most successful with. Finally, after much deliberation, we have decided to submit our paperwork for the Eco2. Abby really did better with it than the others, and I think it will do everything that we need it to do for her. I hope now that we have done the trials, the purchase will go smoothly.
What an amazing day! We had the perfect weather for the strollathon again this year. It was great to see all the families and their teams supporting our girls and our effort to fund research for Rett Syndrome. Our treatment is coming! It feels great that this fundraising could play a part in making RS the first treatable neurological disorder. The Tri-State Strollathon is huge! I think they said there were over 50 teams participation this year. It raised over $175,000 for IRSF. Isn't that crazy? When all the offline amounts are totaled, we will have surpassed our $5,000 goal again this year! I can't thank those of you who support Team Abby enough, whether you participated in the walk or made a donation to our team. You rock. It means so much to our family to have so much support! Here's a few photos of Team Abby. They make the 2 hour drive to Cincinnati every year to stroll for a cure:) Go Team Abby!
Wes and his mom, or as she is known by the kids, Nonnie
Fundraising is not my favorite thing, to say the least. I don't like asking people for money. If those of us with kids with Rett Syndrome could fund the research needed to save our children ourselves, we would.....gladly. It's just too expensive for even this very committed community. We need the support of lots of people. It's just that simple. Asking people to give up their hard earned money isn't an easy task, though. Thankfully, this year's fundraiser reminds me again how blessed we are to have such amazingly generous people in our lives.
There are several donations to Abby's fundraising page from complete strangers. Maybe these are families who follow her blog? Maybe they are in the same line of work as Wes and have stumbled upon his blog with her link? Again, amazing generosity! We've had donations from old friend and neighbors. And then there are our family and friends. Most importantly, they support us by loving and accepting Abby. We know they celebrate her accomplishments and are praying for a cure. They participate in the strollathon every year and give to her cause. We have been blessed with a very supportive family. Just this week, Abby's cousin, Emily, celebrated her birthday. Instead of receiving gifts at her party, she asked her friends to make donations to Team Abby. Wow. How cool is that? Her birthday party raised over $300 for Team Abby! I hope Abby makes friends in school who are just as sweet as these young ladies!
Lately, Logan has been very curious about what is going on with his big sister. We were playing catch last week, and he wanted to throw the ball to Abby. I stood by her to help, and he said he wanted me to move so he could throw it to her. Well, letting him throw a ball at her was not going to turn out very well, so I had to explain in a way I thought he might understand that Abby's hands don't work very well, and she can't move them in the same way that he can move his hands. He looked at me like he completely understood, and continued playing catch, without insisting I step aside and let Abby play by herself. Several times since then, we have noticed Logan trying to hold Abby's fingers apart and stop them from patting. When asked what he is doing, he tells me he is helping her. Makes me happy and sad at the same time. I love that he wants to help but it breaks my heart that she needs so much help.
I wish Abby and Logan could play together, even argue with each other, like other siblings, but I am grateful for the special relationship they do have. Logan has learned how to play carefully around Abby. He is a very energetic little boy, but he has never knocked his very unsteady big sister over when she is walking near. How is that even possible? If he were to bump into her, she would surely fall down. He runs near her, bounces around her, even hugs her while she is standing, but she doesn't fall down! That's really amazing! When he plays with toys while she is walking, he doesn't leave anything that she could trip over on the floor. When his friends come over, he makes them pick up their toys because "they will make sissy fall". He tells me when she is reaching for food or a drink, or if he thinks she is wanting something. And she gets a kick out of him and his nonstop talking and running around like crazy person. He cracks her up....most of the time. She pats his little head when they watch cartoons and smiles when he talks to her. They clearly care about each other, and show it in their own way.
And while they don't argue, they do take a little pleasure in the occasional distress of each other. Abby often laughs when Logan throws a fit in the car. She laughs OUT LOUD, which makes him cry even more. The other day, Logan was screaming (like only a 2-year-old can), and I commented to Wes that Abby was laughing...again. Logan stopped crying and said "that's rude, Abby". Yeah, its a little rude, but very funny. Logan is not completely innocent either. If I give him candy to share with Abby, he does his version of asking her a yes or no question. He does not, however, use any yes/no cards or use eye gaze to determine her response. If he asks her if she wants a piece of his candy, he determines (through telepathy, I guess) that her answer is almost always NO. Imagine that. Abby never wants Logan to share anything with her. Funny.
There are many times that I wish they could have a different kind of relationship, one where they didn't need an adult to intervene for them to interact. I guess there will be time for that, though. Logan is still only 2, and he will learn how to interpret her communication as he gets older and she will have a device that will help her communicate. We are still very hopeful that there will be a treatment in the near future that will give Abby much more control of her body. Who knows, maybe Logan will be helping Abby catch the ball after all!
Abby has been super excited about kindergarten for weeks. We've talked and talked about it, and she has made lots of comments on her trial device about kindergarten and her new school. Very exciting. Her first day was supposed to have been on Monday, but it was cancelled due to power outages until today. She woke up in a great mood and was ready to go! She had a great send off party, with a surprise visit by her Grandpa, Nanna, Nonnie, and Papa Dave. Only Abby can get such a crowd out at 8:00 in the morning.
Abby had a lot to be excited about. She has been placed in a school with a great team of teachers and therapists working with her. It was a very late placement, but we pulled together a meeting on Friday to go over her IEP and discuss the many things that make Abby.....well, Abby. I think this team is going to be great! Her teacher is as excited to have Abby in her class as we are to have her there. She read this blog when she found out the we were interested in her classroom. How cool is that? The therapists had lots of great questions at the meeting and I'm confident that Abby will be challenged in this school. I was so frustrated over the summer about how students are placed in schools in our district. I found classrooms that I liked, but I didn't feel like my input was taken into consideration. At the beginning of the summer, I decided that I had done everything I could do in regards to her placement, and I wasn't going to worry about it anymore. I had a "we'll have to wait and see" mentality. I just prayed that Abby would go to a school and work with a team the would care for her, keep her safe, and help her learn. I was so happy when the very school I wanted for her had a spot open up the week before school started. How wonderful a feeling it is to be able to spend the day with Logan and not have to worry or feel guilty about not being with Abby. And it was so nice spending the day with Logan. A little one on one time could be just what he needs.
Abby was exhausted when I picked her up from school. She slept on the way home, and took catnaps until an early bedtime. Its going to take her a while to get used to the long day. Her teacher said she was happy all day, was successful on the potty and ate well. Yay! So proud of my big girl!!!
So, Wes and I have been in the Rett Syndrome business for three years now. In that time, we have talked about Abby and her battle with RS a lot, but usually it is with people who work with Abby or our family and friends. We haven't done any news articles or talked about the strollathon on our local news. Ive thought about it, but haven't been quite comfortable enough to do it yet. This week, though, we took a step out of our comfort zone to raise awareness, and hopefully funds, for Rett Syndrome.
Wes's employer participates in a giving campaign that encourages it's employees to make charitable contributions taken out of their paycheck to the United Way. During the past year, he has worked to enable employees to make their donation to IRSF, through their United Way donations. Last week, they held a meeting which, in part, discussed their contributions. It was the perfect opportunity to educate the other members of his department about RS, and what an impact their contribution could make. He invited Jenni Grammer from IRSF to talk about the foundation and what their mission is. She showed a terrific video, talked about what RS and what a difference they could make by making a financial contribution. Jenni is a great speaker and advocate for our girls. It was awesome seeing her again! I introduced everyone to Abby and talked a little about her and her journey with RS. I kept her introduction pretty short because the last thing I wanted to do was get teary eyed. It worked well. I asked if anyone had any questions....and they did, which was great. They asked lots of questions that gave us the opportunity to share all kinds of aspects of Abby's life that I wouldn't have thought to mention. I'm so proud of Wes for getting the whole process started. He was a little anxious about sharing this part of our family with everyone that he works with, but he is now glad that he did. They were extremely supportive.
Abby getting a hug from Jenni before she heads back to Cincinnati
It was a small step, but I talked about Abby and Rett Syndrome to a group of people, some who I don't even know, without getting too flustered or crying at all. I can think of things that I wish I had said, but I guess that will always be the case. After all, Abby's journey is not one that can be summed up easily in an hour. The response was very positive, which gives my confidence to do it again.
First of all, let me explain why we need to have a trial for an eye gaze device. As you all know, Abby doesn't talk and doesn't have functional use of her hands. Yeah, Rett Syndrome, thanks for that. This combination makes communication extremely complicated. Her most reliable means of communication is her body language and her eyes. With her eye gaze, she responds to yes/no questions and makes choices. This very simple communication system doesn't allow her many options to express herself. This is where an eye gaze device comes in to play. These devices are meant for people just like Abby. It allows a person to use their eye gaze to activate a device that generates speech. With the device, Abby can use her eye gaze (or dwell) on a symbol that represents a phrase or word, and it will say that phrase, or lead to another page of words to say. It can be as simple or as complex as the user needs. Pretty cool.
While we know that Abby can use this type of device, a trial is necessary for insurance. Her speech therapist will submit documentation that Abby is able to successfully complete a trial. We want to trial the ECO2 and the Tobii Ceye because we want to see which one is easier for her to access and which language system is the best fit. One device may work better with her glasses, her head movements, her strabismus, and such. Also, the language system in one device may be preferable to the other. The Adapting Creatively blog describes the trial process very well.
So now we have our first trial, the ECO2. Wow. It's just amazing. I played with it for a day before getting Abby in front of it to personalize some of the pages and get it ready for her. I found it fairly easy to create and modify pages. There is a lot of personalizing that can be done, which is great. The first task with Abby was to calibrate it to her eyes. At first, I used the dot that she was supposed to follow with her eyes. We found she was more successful when she tracked a zebra picture. Her glasses and strabismus don't seem to be a problem, which is a relief. After calibrating it, I gave her some time to "target practice". She needs to figure out how long to dwell on an object before it is selected. There are a few different ways to practice, but the train demo seemed to suit her. It is a simple enough activity that kept her interested.
There are a few different communication sets that we are using for the trial. There is a exploration wizard with a 15 key area that is working well. The symbols/icons on this device are foreign to Abby, so an area with only 15 keys is low stress and will give her a decent amount of things to say. Each of the keys leads to different pages with more choices. I have also been giving her time working on a user area with up to 45 keys. This would be the user area she would use if we decide to go with the Eco2, so I want to see how she is able to work with that user area also. It is set up different than most other devices, so I want to see how she can navigate it. I am just giving her time to explore, and responding to anything she says. Its important to make it is as no-stress as possible. So far, I'm noticing that she is able to make choices in the center of the screen easier. I sort of expected that. She will go to the outer keys, though, just not as often. I have also noticed that she navigates to a few of the pages more often. She has been going to the phrase based page about herself repeatedly. She says "my birthday is April 13th", "my name is Abby", and "I am five years old" over and over. That seems pretty typical for a kid playing with language for the first time.
I am resisting the urge to ask her questions that would result in a right or wrong answer. The teacher in me wants to get some sort of assessment of her progress, but I 'm realizing that Abby doesn't quite fit into that model. Thanks Colleen for reminding me that the device is for Abby to communicate whatever she wants, not just for me to assess what she understands.
I am SO anxious for her to really be able to use a device to start expressing herself, but that's going to take a while. Learning the meaning of the symbols and the navigation through the pages is going to take a long time, but it will be so worth it. She already is enjoying being able to choose what she wants to say, even if she hasn't completely figured it out yet. It's just amazing....and we're just in our first week. We have it until August 18th, so I'll be posting updates.
I have lots of videos that I have on my phone that I will post. I'm having trouble getting them on my computer, though. It is telling me that they are corrupt?? Wes will figure it out and I'll post them later.
Thursday, June 30, 2011
I don't know if you can tell in the photo, but Abby lost her first tooth yesterday. She's getting SO big!! As it turned out, she already had an appointment scheduled at the dentist today. She is pretty happy about all the attention that her big girl smile is getting, but she was less than thrilled to see the dentist. She cried big tears the entire appointment, which took forever. Her teeth look healthy, except for the damage of grinding. Thankfully, she was calmed down by the time we got to the car.
Maybe PT, dentist, and hippotherapy was too much for one day?
Logan tagged along with us to the dentist. I thought he could warm up to the idea of a teeth cleaning since he has one coming up. Let's just say, after witnessing Abby's apparent torture, I doubt he gets in that chair without a fight. Yikes.
Abby just had her appointment at the UAB Rett Clinic. The big concern from our last appointment was her weight, so we're relieved that she has gained a few pounds and her BMI looks good now. Yay! We talked about supplements and such, and we'll see what the endocrinologist recommends later this week. She'll probably need some additional vitamin D or calcium. She has had a few seizures over the past few weeks, but they seem to have subsided now, so we're not changing any medicines. We talked a little about communication devices also. We haven't had any big issues that we needed support with in the past 6 months, so the visit was rather short. That sounds funny because its not as if she hasn't had any issues. There are always issues. She has Rett Syndrome, but we're a little more confident that we can handle most some of them on our own with the help of her local doctors. I think that's progress. We didn't even ask him if he thought she was doing okay. It seems like we have asked Dr. Percy that at every appointment. I don't know what we expected him to say....something like "she is doing so well that I question whether she really has Rett Syndrome at all". Yeah, right.
Ummm... it turns out, that is bad question. I don't even know how to answer it when other people ask me how Abby is doing.
What an amazing weekend! The conference this year was even better than last. Here's my attempt to summarize some of the highlights:
First of all, I got to spend time with my Rett family. Many faces I had already met, and some have only been in our club a few weeks. These are friendships that were made because of the diagnosis of our daughters. These women have changed the way I see our journey with Rett Syndrome. Their support and insight gets me through those rough days. It is always wonderful to actually see them in person, instead of keeping in touch only online. The atmosphere is so comfortable. The laughs and tears come very easily among this group, especially on a weekend like this, when we have so much to be hopeful for, but are constantly reminded of the difficult reality of our daughter's diagnosis.
One of the memorable moments of the weekend was the keynote speaker, Dick Hoyt, of Team Hoyt. The man is the father of a Rick Hoyt, a young man with cerebral palsy. He has raced with his son in marathons, triatholons, and Iron Man races across the country. His story is amazing. He has opened doors for his son in a way that I just can't even believe. So inspiring!
In the world of Rett Sydrome Research, there is much to be hopeful for. The acceleration of research has led to the first ever drug trial to treat Rett. This trial is taking place at Boston Chilren's Hospital, and was one of the leading reasons for my attendance at the conference. I was so excited to hear how the trial was going. I attended several sessions discussing the specifics of the trial. While I was in the session, it all made perfect sense to me. When I tried to recall this information when I returned home, I was at a complete loss. You will have to trust me that it is all good news. The IGF1 trial has real potential. Phase I of the trial is nearly complete. There have been no adverse side affects of the drug. Yay! Secondly, there are improvements in function of the girls taking the drug. That is a great thing. For those of us with girls with Rett, improvements are not taken lightly. Abby has been working on walking up steps for 3 years with no improvement. She has been in speech therapy since she was 2. She has been trying to put her spoon to her mouth for nearly 2 years. She has been trying to grasp objects with her hand since she lost the skill 4 years ago. Can she do it? Not so much. And she works really hard. She goes to therapy a lot and practices every day at home and school. Improvement often seems out of reach, rather maintenance of function is our goal. If she doesn't lose a skill, we are happy. It would be remarkable for Abby to receive a drug that would improve her function. The neat thing about this drug is that is doesn't just target one symptom. The increase in IGF-1 is proposed to mature the synapsis, which would improve multiple symptoms. It almost sounds too good to be true. I got goosebumps listening to the remarkable progress that is being made and the researchers and doctors that are making it happen. I think the Rett Syndrome World Congress next June will give us even more exciting news!
It is truly humbling that so many brilliant people have dedicated their lives to helping our girls. Of course, the IGF-1 trial is not the only avenue of research that is currently being pursued. There are other trials in the making and other ideas being explored. I feel more hopeful than ever that a treatment or treatments will be available soon that will dramatically change Abby's life. Yeah, I am actually letting myself believe that without trying to protect my heart from the disappointment of the "what if is doesn't happen". It will happen.
Dr. Omar Khwaja, lead researcher for the trial (and one of my new favorite people)
Lastly, I went to sessions that helped me better understand eye gaze communication, gastrointerology, endocrinology, education, literacy, and genetics in relation to RS. It was packed with useful information that I can use to help with therapies, communication, medical issues and the transition to kindergarten. The speakers were so knowledgable and down-to-earth. As a parent of a child with special needs, we are often faced with what our kids are unable to do. It is refreshing to spent time listening to experts tell us what potential our kids have. It reaffirms what we do everyday.
I'm not at all superstitious, but this was the fortune in my cookie on Saturday night. I'm just saying....
I just can't believe that Abby is going to be in kindergarten next year, and that she will leave the teacher and aides that have been so wonderful to her for the past two years. She will have a new school next year with all new teachers and therapists. Yikes! It's going to be quite an adjustment, especially for me. She has such a great relationship with her preschool teachers. They just "get" her. They really do, and she is hard to get sometimes. I will be forever grateful to them for showing me that I can trust others to care for Abby. I was hesitant to let her out of my sight on the first day, but after seeing how wonderful they were with her, I was not only comfortable leaving her in their care, but I was confident it was the perfect fit for her. She has had a great preschool experience!
I am learning that getting any equipment for Abby is going to take a long time. Our insurance is notoriously slow. Add to that the fact that Abby's disability qualifies her for Medicaid, which is very helpful, but carries along with it a lot of additional red tape. Maybe the goal is to make the process of getting equipment so slow and painful that people will eventually give up? I'm not sure. In any case, it's ridiculous. We have been working on getting a trial for an eye gaze communication device since November-ish. I just got a confirmation last week that the company had all the necessary documentation to submit the claim to Medicaid. Finally. It had already been approved by our insurance, which is probably what took the first 7 months. Now we wait. And I know it will be worth the wait. I'm just SO anxious for her to have a talker! There are plenty of girls who haven't acquired a device until a much older age than Abby, and are doing well. I don't think there is a closing window of opportunity. But its just crazy that we know there is something out there that will allow her to communicate and its taking so long to get it. I am not ungrateful. It appears that our insurance is considering it a covered expense, which is a good sign, its just that it is taking SO LONG to get it!!! I think it could be much simpler.
The patient cannot talk. She cannot use her hands. She shows the required cognition to use such a device. Give it to her!
See? Pretty simple.
I hope I don't sound ungrateful. We have been so blessed. Whenever we really need something for Abby, we have been able to find a way to get it. Its just that I think this will be the closest thing to hearing Abby talk. We've already been waiting a long time to hear what Abby has to say and she's been waiting a long time to express herself in a way that others understand. Can you tell I'm a little anxious?!?
A few nights ago, we took Abby to the toy store to get some gift ideas. She always surprises me with her choices. I figured she would want either Strawberry Shortcake or Princess theme toys/party supplies. She has been loving them both lately. I was wrong, though. She consistently wanted Dora the Explorer and these little dogs. Funny.
We used her new harness, so her hands would be free to let us know what she was interested in. I am really liking this harness. I'm still afraid to let her walk independently, as she still has "melting" spells occasionally, and I just don't want her to fall and get hurt. We can hold her hand, but that puts a lot of strain on her arms if she suddenly loses her balance. She has broken both arms in the past year, so I like that the harness gives me the piece of mind that I can catch her if I need to, but she has the independence that she wants.
When she's walking very well, she wears this backpack. It has a lightweight cushion stuffed in it. Abby almost always falls backward, so this protects her head if she stiffens and falls. There will be times when I still use this (maybe on carpet), but there are lots of times when the harness will be a better option.
"another birthday photo....really?"
And there are times when only her chair will get her from one point to the next. We got great news yesterday. Her Convaid Cruiser was finally ordered and should be here in the next week or so. It is little different than the loaner that we are using now, and its going to be purple, which she will love.
Abby has been a little all over the place with her mobility since last January. Its nice to have some good options to keep her walking when she's up to it, and to wheel her around when she needs it.
Today, we are celebrating Abby's fifth birthday! She is riding to school in style in her new glasses, with her chair adorned with balloons and streamers, and a tierra atop her head. There will be no mistaking that it is her birthday. She is bringing cookies and treats to share with her classmates, and we'll be having pizza and cake this evening. It's hard sometimes to plan what I think she might like to do on her birthday, but who can go wrong with balloons, tierras, pizza, and cake?
Logan has been super excited about the NCAA Tournament, especially since his team was in the Final Four. The game didn't start until nearly 9:00 on Saturday, so it was a late night for Logan and Abby, who are usually both in bed by 8:30 (in bed, not necessarily sleeping).
"GO CATS!!"
"MAKE A BASKET!!!!!"
Despite our cheers, Kentucky lost by one point. Bummer. Logan watched the entire game, but Abby couldn't quite make it that long.
