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NIH 2019 | Days 3-5

November 24, 2019

The girls have been tolerating the tests and exams better than expected.  Although, this year we have definitely seen more behavior and resistance from Cecilia.  Wednesday was a busy day day for both girls.  Cecilia had her heart echo, PT evaluation, and EEG.  Her true colors were starting to show by the time we got to her EEG.  She was getting feisty, and feeling pretty done.  I can’t blame her, but we are super proud of her for pushing through and putting up with everything.  Lilly had her NeuroCognitive testing and OT evaluation on Wednesday.  This makes for a long and mentally exhausting day.  She did really well though, and even did better than last year on her neuro-cog skills.  This is great news, because it means that she is still able to learn new things, and solidify new skills before the disease takes over more.  Wednesday night, we ventured out into DC traffic to a playground and to another Batten families home for dinner. It is always so so good and therapeutic to hug another batten parent who gets it.  

 

Thursday was Lilly’s day under anesthesia.  She was so brave, and there were no tears- which is a huge improvement from last year.  She came out of it just fine, and was recovered by the afternoon.  Cecilia had her 24hour EKG monitor installed, and went through the neuro-cog testing and OT evaluation.  Her overall scores have declined, and we validated that the decline and struggles that we are having at home can be somewhat quantified on the neuro-cog and OT evaluations.  It is also a big change in the fact that she is scored against her peers, and the learning curve from age 9 to 10 increases drastically for normal kids, and Cecilia is plateaued or regressing in all areas.  Her motor planning test in the OT evaluation was very interesting to watch.  It’s one of those things that we struggle with, but can’t explain, until it is put in front of us in a test.  Then it becomes very black and white.  A simple two step direction like “put one hand on your head, and one foot to the front” is confusing and difficult at best, if she can complete it.  We found time on Thursday afternoon to play on the playground at the Children’s Inn.  It was a beautiful day, and good to get outside to play.  We also enjoyed the therapy dogs that came to visit.  

 

Friday was an easy day.  Lilly had an echo and each of them had a Photography session.  They photograph the girls to see how their bodies have grown, and changed.  It’s not a fancy or fun photo session at all- very clinical.  

 

We wrapped up with a big review session with Dr. Dang Do, and Dr. Denny Porter.  Overall, their 18 page reports with most of the results from all their tests, labs, and exams were normal.  This is the mind boggling thing.  18 pages of medical results, and if we didn’t have a diagnosis already, NONE of these results would tell us they have CLN3 batten disease.  None.  The two major things that were found are vision loss, and behavioral/cognitive.  But, those don’t correlate to Batten, and they are also very broad in terms of any medical diagnosis.  It makes us grateful that we do have a diagnosis already, because I can’t imagine going through that whole week to try to get a diagnosis, and get noting.  This is WHY we do this though.  We are trying to help the medical community learn more about this disease so that it is easier to diagnose earlier.  

 

Friday night we were able to escape again and go out with family.  We went to Dave and Busters to celebrate the week being over.  The girls really do love to go there.  We had a fun night and got to catch up with family.  We went back to Aunt Jackies house for desert and the girls put on a cute puppet show with the help of some cousins.  

 

We are so excited to almost be home!  We miss the little sisters, and Mamma and Pops!