Abby's first visit to Boston for the IGF-1 Trial

Though I haven't blogged in a while, I think this is a good time to start again.  We just got back from our first trip to Boston, where Abby is participating in the IGF-1 trial.  We enrolled Abby in the trial a couple of years ago, and again in October.  We are so very excited to finally get started! This trial is the first ever designed to treat Rett Syndrome, rather than just addressing individual symptoms of the disorder.  IGF-1 is already FDA approved to treat children with a deficiency of IGF-1, which leads to growth problems.  The expected outcome is that the growth hormone will aid in the maturation of the synapsis in the brain. The immaturity of the synapsis in the brain of those with Rett Syndrome prevents the signals from the brain from getting to the rest of her body.  The potential effects are improvements in behavior and communication, decreases the irregularity of her vital signs including breathing and heart rate, decreases in anxiety and hand stereotypies, and improvement in the way the brain communicates with the rest of the body.  It's very exciting to be a part of this trial, as the potential could be life changing for Abby and all girls with Rett Syndrome.

We were in Boston for 2 weeks, while the researchers assessed Abby to verify that she was a good candidate for the trial and to do a lot of baseline assessments.  The tests are all non evasive, and Abby handled them like a rockstar.  I was concerned that being away from home and having to undergo these tests in a strange place would be stressful for her, but I think she understands that everyone that treated her was trying to help her.  The team in Boston is wonderful.  They were comforting to her and they made me more confident that enrolling Abby in this study was the right decision.  

    Abby very much appreciated EEG helmet.  It was much easier, comfortable, and less painful to put on than the ones used at most hospitals!  

Much of the testing was just monitoring Abby's breathing, heart rate, and hand movements.  She wore bands on her chest and sensors on her hands that detected movements. 

Dr. Kaufmann, the principal investigator, was wonderful.  I'm very comfortable with her in his care for the duration of the study. 

After 12 days of testing, the day finally came for us to get Abby's first dose of the medication. I've never given myself or anyone else an injection of any kind, so I was a little nervous.  After instruction by the nurse though, it was easy.  Abby didn't even flinch and had no adverse reaction.  We will continue to give her the injection twice a day for the next 20 weeks.  After 20 weeks, she will get no injections for 28 weeks to washout any medication in her system.  She will then start taking the injections again for 20 weeks.  One of these 20 week periods will definitely be IGF-1, while the other will be a placebo.  We don't know when she will get the IGF-1, but we hope she's getting it now!  It will take her a few weeks to work her way up to the full dose, so we don't know how long it will take for us to expect to see some improvements if she is on the drug. We'll have to just wait and see. 

We tried to make the most of our trip to Boston.  Wes, Logan, and myself went with Abby for the first week of the trip, and then the boys went home for the second week.  We wanted Logan to see what Abby was doing in Boston to help him understand the injections and the trial.  While the four of us were there, we had a few days without appointments that we took full advantage of.  

Happy Easter!

Go Red Sox!

Having to travel to Boston 6 times, with 4 of those trips being 10 days, is quite an expense.  We enrolled Abby in the trial and then immediately started looking for ways to make it happen. We are so blessed to get connected with the Molly Johnson Foundation.  After hearing Abby's story, they graciously offered to fund our transportation for our trips to Boston.  We are SO grateful!  They even stopped off the week of our trip and dropped off a care package to help get Abby ready for the trip.  She was so excited when she came home from school to find a bag full of goodies, PJ's, treats, and fun travel games.  Their support, and the support of family and friends has been awesome!    

We have a long way to go, but we're so excited to be a part of this trial.  It feels like we are in the process of finding a way to make Abby better, rather than keeping her from getting worse.  Four years ago, we were told that Abby had Rett Syndrome.  We were told that there was no treatment, and even if there was, she would never be eligible, as the damage to her brain was permanent.  A lot changes in four years.  On our four year diagnosis anniversary, we were in Boston participating in a drug trial to treat Rett Syndrome. This drug trial is only the first of many. We are so much more hopeful for Abby's future than we even have been before!!   

Planning Disney with a child with special needs

Like I said before,our trip to Disney was wonderful. We all had an amazing time, but I have never made so many lists in all my life as I did trying to get ready for this vacation.  I have always been a planner, but with Abby, my lists take on a whole new level.  The last thing I want to happen is to run out of seizure meds in Orlando, or for her to have a seizure in the park & not have a change of clothes.  I even made a list of things to pack in the bag to take to the park once we got to Disney.  I know I'm not alone in the planning and packing frenzy that comes with taking a child with special needs anywhere, let alone to a theme park.  I practically fill my trunk just to go to the zoo.  I know there are a million websites with Disney tips, but I thought I would share a few things that we thought were useful and that may help another family plan a little easier.

When we went to Orlando, the temperature was about 90 degrees at the hottest time of the day.  There were rain showers that cooled it down, but it did get pretty hot at times.  Abby doesn't tolerate heat well, so we packed a few things to help her cool down.  This little fan was perfect on the days when it was overcast, but still humid.  It also worked well in the shade.  In the sun, however, it was just blowing warm air in her face.  I could put ice water in it and mist her with it, but we mostly just used the fan.

We put the fan in this mounted cup holder.  Its purpose is to allow her to get a drink without help, but it worked great to hold the fan as well.  She uses one that is similar at our dinner table, but this is the only one that I have found to be strong enough to hold a cup at the right level on her wheelchair while the chair is moving.  She drinks a lot, so its nice for her to be able to do it independently.  We even put it on her carseat on the road trip.  It was expensive, but worth every penny.

Another thing that kept her cool was this cooling towel. When wet, the towel stays cool until it dries. Vendors were happy to let us use their ice water to dampen it, and then it kept her legs protected from the sun, and cooled down. 

If possible, I also highly recommend bringing a few of these.  Squeeze them in your trunk if you have to.  Having more adults than children is always to good thing.  It was great that Abby could relax with my parents while Wes and I rode a few rides with Logan.  I'm glad we got to share this experience with my parents. Logan and Abby loved having them join us.  In fact, we were only an hour into our trip home when Logan started crying that he missed them.  Thanks, mom & dad.  We wouldn't have had nearly as much fun without you guys!   

While researching our trip, I learned quickly that we would need to go to the guest relations office and get a guest assistance card.  This card told the people at the entrance to the ride two things, that her wheelchair was a wheelchair and the she can use an alternate entrance when available.  I don't really know which rides provide an alternate entrance other than the wheelchair accessible entrance.  Every ride we entered used the fast pass entrance as the accessible entrance for wheelchairs.  For us, the useful part of the card was to identify her wheelchair.  For some reason, everyone assumed she was in a stroller.  I think lots of big kids who typically would walk use strollers at Disney, so they're used to big kids in strollers, and don't consider that they could be in a wheelchair.  After a few days, one of the workers suggested that we get a red tag on our "stroller" that said it could be used as a wheelchair and then we wouldn't have to search for the card at every ride.  Even though I was tempted to argue that I didn't need that because it WAS a wheelchair, I am thankful for her advice.  Once we got the red tag that indicated that our "stroller" was to be used as a wheelchair, we no longer had to show the card or explain that it was a wheelchair. As soon as the workers saw the red tag on her chair, they showed us where to enter.  If you have a wheelchair that looks anything like a stroller, even if it says "pediatric wheelchair" and has footplates, go ahead and get the red tag put on it at guest relations.  It will save you from having to explain or keeping track of the the GAC card.  We didn't use the GAC card at all after we got the tag, but maybe some rides had an alternate entrance that we didn't use?  I'm thinking that an alternate (air conditioned) entrance might be used if the accessible line was long and outdoors?  While we were there, the lines were short, so this wasn't an issue. I'm thinking in most circumstances the tag would do the same thing. 

If you have a child who gets overstimulated, then you are probably like me and have a pair of headphones in your bag all the time.  If you don't, you may want to invest in some for Disney.  It gets loud.  The restaurants are loud.  The parades are loud.  The rides are loud.  The fireworks are loud.  If I had earplugs, I would have used them myself.  It can be a bit much, so be prepared. 

It takes a lot of planning to pull it off, but it is SO worth it! If you're planning a trip soon, I hope this gave you a few ideas.  

  

The Happiest Place on Earth

What an amazing week! Following our trip to the Rett Clinic at UAB, we headed to Disney World.  It was the first time either of the kids had been, and the first time in 10 years for Wes and I.  I was apprehensive taking Abby to Disney.  I've heard that it's a great place for kids with special needs, but I feared she would get over-stimulated.  That could make her have lots of seizures or just sleep the whole week. Thankfully, she did neither.  We all had a wonderful time!  It really is the happiest place on earth.  The people who worked there went out of their way to accommodate Abby.  They were courteous and polite and helpful.

For the most part, we went to the parks in the morning and rested at the pool or in the room in the afternoon and evening.  I use the term "rested" loosely because Abby rarely napped the entire week.  I don't think she wanted to miss anything.  I can't believe how calm she was in the middle of all the chaos that surrounded us.  She took it all in.  She did get a little too excited on the way to her breakfast with the princesses and had a seizure.  But even then, she stayed awake after and was able to attend the breakfast. I'm so relieved that she recovered so quickly because the breakfast was perfect.  She met all the Disney princesses and seemed to enjoy every minute of it.

Logan said he didn't want to go and certainly didn't want to hug any princesses, but his mind was changed by the bikini-wearing Jasmine, who assured him she was not a real princess.

We spent our first day in the parks at Animal Kingdom. Abby and Logan both loved the raging rapids and the safari.  We also spent a lot of time in Dinoland USA.  Logan is a little obsessed with dinosaurs lately.  We spend about 4 hours at Animal Kingdom, and then headed back to the resort.  It was a beautiful day, not too hot or humid. 

                                 

The next day, my parents flew down and spent the rest of the week with us.  It was great to have them there to share the experience with the kids and to help out!  For the rest of the week, we went to Hollywood Studios and revisited Magic Kingdom.  It was so much fun!  Abby rode almost everything that we did, with the exception of a few fast or jerky rides.  She really seemed to enjoy herself.  

                                 

She loved the electric parade!

Slumber Party

After our appointment with Dr. Percy, we checked into a hotel.  Wes had a conference in Vancouver and wouldn't meet up with us until the following evening, so it was just the three of us.  Getting settled in the hotel went unexpectedly smooth.  We played in the pool and then got ready for bed.

"Hey guys, we're going to get some popcorn and watch a movie in bed!  Won't that be fun?"

(all smiles)

"And then you guys are both going to sleep in this bed"

Wow.  Sometimes she doesn't really need words. She didn't really have to share a bed with Logan.  I thought I would try it, but she wasn't having it. 

Rett Clinic Update

Every year, we take a trip to Birmingham to the Rett Clinic to see Dr. Alan Percy and Jane Lane.  They are the experts in all things Rett Syndrome.  We made our first trip when Abby was two, just a few months after her diagnosis.  At first, the visits were nerve racking.  We were scared about what new symptoms were appearing, what toll Rett was taking on her body, and what to expect.

After 5 years of visits, the appointments are much more relaxing.  It is just nice talking to doctors who understand what she is dealing with.  When I explain her most recent weirdnesses, they've seen it before.  They don't give me blank stares.  They don't have to tell me to wait, while they look up something on their iPad.  One of my biggest concerns for her now is her leaning to the right and spasming.  Her spine x-rays are straight, but sometimes she leans so much that she can't stand, walk, or sit.  When she is leaning, she is also rocking and it's impossible to straighten her out.  Dr. Percy says she has dystonia in her trunk.  Dystonia is involuntary contracting of a muscle/group of muscles causing repetitive or twisting movements in the affected area. Thats exactly what is happening to her trunk.  Not surprisingly, there isn't an easy fix.  Right now, it is happening a few times a day.  It lasts for a few minutes, and then she regains control again.  When she gets dystonic, she needs to be held or put in her wheelchair and wait until it passes.  It can be brought on by anxiety, which seems to be the case sometimes.  If the dystonia becomes more of a problem more often, then there is medication, but it isn't something that we are going to try yet.   She also has dystonia in her ankles.  That is the reason why they are twisting inwards and causing her to walk out the outsides of her feet.  She will need to wear braces on her feet all the time.  She has been wearing them at nights, but I've been less consistent about daytime wear because I wasn't really sure she needed them.  Dr. Percy says wear them all day so wear them all day she shall.  They will hopefully keep her feet from turning in and prevent her heel cords from tightening.

We also talked about seizure control.  Although her seizures are fairly mild, she still has them on a regular basis.  She has about 4-6 per month.  He thinks we need to increase her Lamictal in the morning, so we'll start doing that this week and see if it helps.  She is on a moderate dose of Lamictal, so there's plenty of room to increase until we can get them to stop.  If we get them to stop, our plan is to stop taking the Keppra.  I'm also going to talk to her pediatrician about trying Lexapro again.  She tried it for anxiety, but we didn't notice any changes.  Since the dystonia could be brought on by anxiety, it's worth it to try to manage the anxiety again.  The Lexapra dose that we tried last year was very low, so we may just need to increase it to get some improvements in her anxiety level.

Overall, Abby is doing well.  We're making some changes with meds and she needs to gain a few pounds (which is hard to believe because she eats A LOT), but that's always the case.  She is always so happy seeing Dr. Percy, and is determined to see what is written in that folder of his. She constantly hovers over his work and pats his papers.  This visit, she managed to knock the whole thing on the floor.

I really don't know what we would do without Dr. Percy and his team.  Their advice drives most of the decisions that we make about Abby's care.  They make recommendations of her specialists, which they always follow.  They are always available to answer questions or write recommendations.  Dr. Percy's letter was one of the things that got our district to provide her a designated aide in the classroom.  The dedication they have to girls and women with Rett Syndrome is just amazing.        

Back to School

Today was Abby's first day on first grade, round two.  She missed a lot of school last year, so we thought this would be a good year to repeat.  My only hesitation was that she absolutely loved her mainstream class last year.  They were great with her and I hate that they are moving on without her.  I hope that this year's first grade will be just as great.  She has been telling me with her computer for the past few weeks that she wants to go to school, so I know she was ready.

She is riding the bus this year for the first time since preschool, so that will be one change.  She enjoyed the bus then, so I don't expect it to be a problem.  When she has seizures, they do tend to occur in the morning at around the time of pick-up, so I'm hoping that isn't an issue, but we'll just have to wait and see how it goes. This morning the bus was very early.  We rushed her out with barely enough time to snap a picture!

I haven't posted in so long!  Here's a few photos from the summer.  

We went on a trip to Gulf Shores this summer and had a great time.  The kids got to spend time with their cousins and aunt that they don't see that often, and their memaw and papaw.  It was perfect timing as Abby's fellow Rett sister, Avery, who lives in Gulf Shores, was having a birthday party while we were visiting!  I met Avery's mom, Carrie, since shortly after Abby's diagnosis, but it was the first time Avery and Abby met.  Girls with Rett seem to have an immediate connection that is so sweet to watch.    

Abby enjoyed playing in the water and walking in the surf.  The heat didn't seem to bother her for the most part.  She only had one seizure on the trip, and that was on one particularly stressful day.  

She sleeps a lot on trips.  I think its her way of dealing with all the overstimulation that comes with vacationing.  She can sleep anywhere!

Abby spend a lot of time early in the summer playing in the water, both in the pool and standing in her gait trainer against a water table.  

Summer was fun, but we're all ready for the routine that the school year brings!   

    

Abby starts with A!

Something amazing happened this week.  Alison, Abby's speech therapist,  and I were talking with her today about school.  Abby kept grabbing the turkey that she made earlier that day at school.  I guided her to the "art class" page on her computer so she could tell us about it.  She immediately said "red, yellow, orange".  It's not often that Abby is that quick and consistent.  I could tell she was "on".  She then went, on her own, to the alphabet/spelling page.  The letters are arranged like they are on a rotary phone (remember those?), with each box representing three letters.  When she hits the ABC box, she has the choice of selecting any of those 3 letters.  In the spelling page, she can also say things like "it starts with", or add punctuation.  Anyway, she immediately spelled her name.  A-B-B-Y!!!  She was able to go in and out of the letters three times and find all the letters.  We hadn't even asked, which is probably why she was able to do it without getting anxious. Amazing.  So her therapist and I both went crazy and Abby proceeded to say "it starts with A".  And thats not all.  She kept tapping the turkey with her hand and then said "it starts with T U".  She was so proud of herself. My girl is learning how to spell!!!