Can't believe that I haven't posted since Halloween! Where has the time gone? This time of year seems to be so busy with holiday preparations, Christmas decorating, shopping, cooking, and preparing the Thanksgiving feast. We had a great Thanksgiving meal which included Grammy, who flew in from Michigan, my cousin and her husband who live in Washington D.C., and a friend from my playgroup and her husband and daughter. I cooked all of the traditional fixings and we had a yummy meal and a relaxing day. Grammy and I then prepared some shopping lists and headed out for Black Friday at 5am. We were out until dinner time and then went back out again to Target and Kohls after the girls went to bed. We found tons of things for Emma (OMG I could just keep buying for her I have SO many ideas) and nothing for Anna. Seriously, what do you buy a one year old who already has an older sister? I am having a really hard time coming up with ideas for her - how many more plastic toys can this house hold? Just when I thought I was completely done shopping for Emma she keeps saying over and over that all she wants is a Barbie salon. Really? A piece of junk salon where you can actually dip Barbie's hair in the sink and wash it or color it with markers. Let's just say this has not been purchased and we will see how much of a softie Santa really is before Christmas:)
Anna is OH SO CLOSE to walking. Unlike Emma, who started walking exclusively after her 1st step, Anna is warming up to the idea of walking. She takes 8 steps here or 10 steps there. We are noticing her walking a lot more on her own without prompting, but when she wants to really get somewhere fast crawling is still her top pick. Mommy is hoping that she will be walking by Christmas (which will be 2 days shy of her 16 month birthday)! We have had some behind the scenes decision making for her healthcare lately. The opthamologist wanted to perform an ERG and OCT, which are basically tests to more accurately measure the functioning of her retina and overall vision. (Remember - the main side effect of her current meds is peripheral vision loss. Therefore, we have to see the opthamologist every 3 months.) We scheduled these tests, which have to be performed under complete sedation at the hospital (meaning complete sedation with intubation) and Jay and I just kept having second thoughts about it. #1 Why are we putting her through this when we totally feel the benefits of her medicine (complete seizure control) completely outweigh the potential side effects of peripheral vision loss. We would never take her off from her meds even if she did have this peripheral vision loss. #2 The follow up ERG/OCT would be completed when we are going to wean her from her meds (May) which is when they would compare the 1st results with the 2nd to determine any change in vision. Therefore, the first indication of eye problems would be when we are weaning her from the meds anyway. Needless to say, we cancelled the test and told them we would revisit this later if she needed to be on the meds on a more long term basis.
We had a 3 month check up with her neurologist a couple weeks ago. He is extremely pleased with her complete seizure control on such a low dose of meds. She keeps gaining weight and then falling under the minimum recommended dose threshold and still has complete seizure control:) Unfortunately, there are kids out there on 4-5 times the dose that Anna is on and it still isn't controlling their seizures. He also said that he was pleased at how interactive she is and how she points at everything and seems to be asking "What's that?" His exact comment was "For kids with Tuberous Sclerosis, and especially those that have had infantile spasms, she isn't at the top of the curve as far as development, she is at the very tip of the curve." I seriously wanted to jump up and hug him. This was the best news we have heard in a long time - coming from a very conservative doctor who is very careful not to make any future predictions on how she will be affected. We have an appointment with the developmental specialist Dec. 14. We are curious to see if she has the same opinion on Anna's development, specifically how she feels her communication is developing. Right before we left he said that the next thing she should start doing is pointing to things like the nose, ear, mouth when we ask her. She can already do that with our nose:) What a smart little girl!
We have also decided to put Anna in a clinical trial at Boston Children's Hospital. It is entitled "Early Diagnosis of Autism in Children with TSC." Overall, kids with TSC are at a much greater risk of being diagnosed with an autism spectrum disorder. Although Anna does not show any current signs of autism, we decided that the more screening for her the better. She will have extensive neurodevelopmental screening and although she may not show signs of autism we may receive early recommendations for speech therapy or behavior therapy, or a number of other things that early screening can pick up on and early treatment will help. We will travel there 3 different times - at 18 months, 2 years, and 3 years. In the end, we hope that they find nothing wrong with her of course! However, we are so thankful for all of those researchers who have studied this disease long before we ever heard of it, and especially those that developed her miracle medicine that has stopped her seizures. If they don't find anything wrong with her, hopefully we can help their research to find better predictors of which children are more at risk for autism, and down the road give more families the answers that they are so desperately searching for.
Enjoy the pics!
Emma is SO excited for colder weather so she can wear her hat and gloves!
Can you spot the girls in front of the tree? 
Girls in front of the White House tree
It did have tons of train tracks around the bottom that Emma loved.
The National tree is also surrounded by 50 trees, one for each state. This was the Michigan tree - I took a picture for all of our peeps back home!
Emma had a GREAT time!!
Hope everyone has a very happy and safe holidays!!
