IRSF Conference 2011

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.  

IGF-1 Study 

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....

  

      

Preschool Graduation!

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!

Waiting...

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?!?    

How Abby is getting around these days

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.    

Happy Birthday Abby!

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?

Happy 5th Birthday sweet girl!

4/13/2010

4/13/2009

4/13/20008

   4/13/2007

4/13/2006

Game Time!

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. 

Ups and Downs

Today was a gorgeous day to go to the park.  As most of you can imagine, its a little difficult for Abby to play at the park.  Its a little difficult for me to respond to other little girls asking her to play.  Today, however, the sweetest little girl wanted her to play.  I told her that Abby would love to play, but that I would like to join them.  The little girl, Olivia, seemed okay with that idea.  We went on to play hide-and-seek, ring around the rosie, and racing down the slides.  I was Abby's hands and legs most of the time, of course.  She had a blast.  She knows that a playground is often just therapy, but today she had fun....laughing out loud fun.  This was the first time that another kid had been so "normal" with Abby.  She held her hand, talked to her, and laughed with her.  It would have been the perfect trip if I could stop the story now.  

As I get ready to get the girls on the swings, I hear Olivia's father calling her over.  I can't hardly believe what he told her.  He reprimanded her for playing with Abby.  "There's something wrong with her.  Can't you see she't not like the other kids?"  He was actually aggravated that his daughter picked Abby to play with, a child who clearly was not a suitable playmate.  I just couldn't believe it.  Despite her fathers comments, Olivia returned to the swing set, only to be yelled at again.  Unbelievable.  I don't think Abby heard any of this, as she was completely distracted by the other kids playing. Wes definitely did not hear it, which is also a good thing, as he would most likely be behind bars right now.  

I wish I could say that I confronted the man.  But I didn't.  I may have, but the lump in my throat prevented it.  It was a good thing I wore sunglasses because I was a mess.  It was just such a shock that someone would be mad that their child was playing with Abby.  And he said there was something WRONG with her!  Who says that?  I still just can't hardly believe it.  I wish I had said something.  I don't know what it would have been, though, in front of Abby.  Maybe I'm naive, but I have never thought that any parent that would not want their kid to play with her.

I'm starting to think of a few things that I could have said to him now.....