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NIH Day 5: Wraping it up

November 10, 2018

Today was the last day of testing for the girls.  Cecilia had Neuro-Cognitive testing first thing this morning.  This was definitely a KIF.  There was nothing surprising about this testing, but it is always hard to see the inabilities in your child.  She was a trooper through the testing, it can be very tedious at times, and not exactly fun.  She also had a echocardiogram and a hip x-ray to make sure that her new posture with her feet is not because of any hip displacement.  

 

Lilly had an EEG, echocardiogram, patient photography, and she got to meet with the low vision OT.  The low vision OT was very helpful and had several great suggestions for us.  Several of her suggestions we have already unintentionally implemented at home, like dark floors and light walls.  She was very encouraging to us.

 

We wrapped up our time at the NIH by going over several of the test results with Dr. Dang Do and Nurse Kisha.  The good news about the clinical tests results is that there was noting major in the girls results to cause alarm right now.  There were a few things that were interesting to Dr. Dang Do, that are not presenting as a trend for CLN3 kids.  One of them was a Probrain peptide that has to do with their hearts.  Their levels were very elevated and this has been seen on another CLN3 kid as well, so now it is a trend.  Dr. Dang Do was not too concerned because their echocardiogram results were normal.  The other outlier was on Cecilia- her vitamin D was low, so we are starting her on a supplement.  

 

One of the biggest takeaways that we got was to keep these girls as active physically and mentally as possible.  The research that is being done here has shown that the perceived loss of abilities is not true.  It is more of a plateau for these kids.  We think the same is true for Cecilia and Lilly.  The skills and habits that they learned before age 6 are still there.  When Jon and I started having kids, we wanted to instill a strong independence in them from a very early age. This meant that age 2, Cecilia learned how to clear her dish from the table and dress herself,  and age 4 learned how to shower herself and empty the dishwasher.  She still can do all these things, but she can’t tie a shoe or clean a bathroom with out great difficulty.  They haven’t really lost any skills, but they haven’t gained any skills either.  At this point, it is not that they can’t learn new skills, but that it is going to be much slower and more difficult to ingrain new skills and habits. 

 

Overall, this was a great experience.  We are glad that we came and contributed what we could to the research.  Every one we came into contact with at the NIH was so nice, helpful, respectful, and professional.  It was a real treat to work with some of the top researchers in the country.  

 

We have told the girls all week that they are heroes.  Cecilia has found a mantra that she is helping the doctors to learn and find clues to her disease.  We have told her that she is the main character to her very own mystery story, and all the clues are in her body.  

 

We celebrated by getting off campus and taking the girls to Dave and Busters to have some fun.  Comfort food and fun games were a great way to end the week.  

 

Thank you for following our journey and praying for us this week.  Your continued support means so much to us, and we are thankful to have you as part of our village.