We just returned from being in Boston for 4 days. We enrolled Anna in a clinical trial at Boston Children's Hospital entitled "Early Diagnosis of Autism in Children with Tuberous Sclerosis Complex." Kids with
TSC have an alarming 60% chance of developing autism and we decided to enroll Anna in order for her to get additional
neurodevelopmental testing. We wanted second opinions on her development and whether she would benefit from any therapy, as we know that early intervention is key for all developmental delays. We also wanted to meet with Dr.
Sahin, the pediatric neurologist that runs the
TSC clinic at Boston Children's, who is one of the most renown doctors in the country. Again, we wanted to make sure we were on the right track with all of Anna's current treatment and make sure he would do the same thing regarding weaning her from her current medication and at what
time frame he would do this. We will have to return in August, when Anna turns 2, and one more time next August when she turns 3.
In a nutshell, we feel that we got really good news. She did have an MRI, which she will continue to have yearly. The results of the MRI showed that she hasn't had any change in the growth of her
subependymal nodules, which is AWESOME! These little nodules surround the ventricles in her brain (the fluid filled cavities) and in some kids can grow into larger tumors (called
SEGA's) and although they are benign they can cause major problems because they block the flow of the fluid throughout the brain. She does have 2 nodules along with the many tubers, which have remain unchanged in size and will have to continue to be monitored.
She also had 2 different
EEG's that were very short (only 15-30 minutes each.) Although Dr.
Sahin said he would like to see results from a longer EEG, and specifically one from when she is sleeping, the results of her EEG were normal. We will take this good news because we know it can be abnormal even in a short period of time, which hers was a year ago when first diagnosed.
She also had 2 different days of developmental testing in which specific tests were administered that consisted mostly of "play therapy." She scored normal in all developmental categories except for expressive speech, which is the words she can actually say. Since she can only say 4-5 words, they put her more in the 14 month age range than the 18 month age that she actually is. We also know that speech can be so extremely variable at this age as some kids are talking and some really aren't. I know Emma didn't really start talking until much closer to the 2 year mark and then it was an explosion, which we can only hope for Anna. They recommended speech therapy to work on this and we have already started the process of getting her started. Our county provides an awesome speech therapy intervention program, however wait times can be up to 2 months to get started. So it may be a bit before we actually get started.
The one upsetting part of the trip was that the testers told us after all of their testing that Anna fell in the autism spectrum by 1 point. Immediately after saying this they said, "BUT if you ask either of us we really don't think she is autistic at ALL." They administered the autism test first thing Monday morning and apparently it took Anna a little bit to warm up to them (hello stranger anxiety at 18 months!!). They said that on the second day she did a ton more social interaction and eye contact that would have completely taken her off the scale but they couldn't give her credit for it because it wasn't in the 90 minute test time frame. They also said that her lack of expressive speech is what also puts her over the line. Anyway, I was at first really upset to hear this word but am very confident that Anna should NOT be in this category. She is very social, interactive, has great eye contact, smiles all the time, and the list goes on. I think the testers actually felt bad having to say that she fell on the scale by 1 point because they went on and on about how they didn't feel she is at all. Anyhow, we can only hope she proves them wrong on the next visit:) For now, we are happy with all the good things she did!
We also managed to do a few fun family activities while we were there. The Boston Children's Museum was probably the highlight of the trip. It is a very fun and interactive museum and both girls loved it! Enjoy the pictures.
A couple pictures of Anna that they took for us undergoing her EEG. This one was awesome because it was a hat with all the electrodes attached which was so easy to put on. Usually they have to attach each individual lead and it takes forever and she screams bloody murder. Love the hat!!
Watching the video monitor
All packed up - those
carseats sure added to our load this time!
Emma riding the train, which she says was her favorite part of the trip.
Emma posing in front of the Charles River
Fun times at the museum
Anna also loves to dress up and insisted on wearing my sweatshirt the other day.
Daddy playing with the girls
Great Nana with the girls - we had a great time with her visit! 
Anna also loves to dress up and insisted on wearing my sweatshirt the other day.
Daddy playing with the girls
Great Nana with the girls - we had a great time with her visit!
