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.

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.

Tuesday, June 28, 2011


After Abby's appointment in Birmingham, we drove a few more hours and spent the weekend at the beach.  I think the pictures speak for themselves.

The water felt wonderful.  Abby ha just about outgrown this float, but it works so well.  I'm going to have to find something similar next year.  

Playing in a water-filled boat was a good way to cool off.

The boys spent lots of time at the driving range.

Abby was less than impressed with golf. 

Rett Clinic

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.    

Friday, June 3, 2011

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.  
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!