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NIH Research Week: Day 1

November 6, 2018

 

Yesterday, Jon, Cecilia, Lilly and I arrived at the National Institues of Health in Bethesda, MD.  We are here to help medical researchers learn more about CLN3 Batten Disease.  This is a natural history study, and does not include any treatments for the girls, just a week of all different kinds of medical testing so that the doctors can learn more about the disease.  This is so so important.  You have to know how something works before you can fix it.  This study is also trying to find bio markers for future generations.  If they can find a specific set of bio markers, (much like you might find bio markers for DownSyndrome or  Spinal Bifida) then any treatments or cures that might come along could have a better impact if administered sooner to children with CLN3.  We are here to help the big picture.  Cecilia and Lilly can’t grasp the big picure, and it is hard for them to understand how much they are helping.  In my mind, they are heroes.  They are helping and hopefully saving so many other kids in the future from this terrible disease.  

 

Today, we met the team and started with Audiology for both girls.  The good news is they can hear just fine.  Although their listening abilities were not tested... Lilly fell fast asleep during the second half of her testing.  Both girls went through a battery of eye exams as well, including photos.  Lilly’s vision is about where it was in July.  Cecilia’s is worse.  Dr. Brooks explained retinal layers to us, and how to “read” one of the photos that they take of their retinas.  

 

We also gave a thorough medical history for each girl, and a family history.  It really is amazing, and depressing to see how healthy and normal their development has been up until about age 6, when Batten started showing up.   

 

Both girls had an EKG, which I’m guessing looked normal, because it didn’t alarm anyone.  Cecilia also had a general physical today with Dr. Dang Do, the primary physician and contact for this particular study.  Cecilia also did an olfactory test with scratch and sniff pages.  

 

The girls were troopers today, and we are so proud of them.  We took them out to dinner and told them how we believe they are heroes because of how they are helping other kids with the same disease as they have.  

 

 

 

 

 

 

 

 

 

 

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