My wonderful daughter Brianna Skriver was born on March 5th, 2002. Brianna thrived and grew into a curious little toddler. She was running around and getting into just about everything. Climbing and jumping off of almost anything. She had no fear.
She attended daycare at Disney's YMCA near Animal Kingdom theme park. She would play with her friends, ride bikes and go down the slides, she even would get into a little bit of trouble as pulling out the pretty flowers from there roots. Brianna always had a speech impediment however as time went on I started noticing she wasn't skipping and couldn't jump on one foot.
In 2007 we moved to Wilmington, N.C., Brianna was in kindergarten. She was my very overly active child. The teachers and doctors came to agreement that Brianna was ADHD. With the doctors advice I started Brianna on medicine for ADHD.
That day will forever remain in my mind. Brianna went from her normal 100 miles an hour to an uncontrollable 500 miles an hour. She couldn’t sit or concentrate to the point where she had cotton mouth from talking so much. I called the doctor in fear and crying that she was over dosed. The doctor told me to keep giving her the medicine and it would get better. It never got better and I was trying to get a refferal to a pediatric neurologist.
Six months later and still demanding to see a neurologist I stopped Brianna on the medicine. She was almost in a vegetative state: drooling, wetting herself and having seizures. Staying on the couch all day and not wanting to get up.
Since then she is still regressing. She is no longer walking, and cannot crawl around. I have to help her with everything. She used to go into her bedroom and pull out all of her clothes trying everything on and changing her outfit 100 times a day. She loved to play princess dress up. Now she can’t do anything without complete help.
Duke Medical Center has tested her for just about every muscle disease there is. Anytime they have drawn blood it's to fill at least 18 or more vials. She has had MRI's, CAT & PET Scans, EEG's, and EMG's (which required a needle through her shin and wire's attached to her body being shocked about a dozen times), She has had several spinal taps, 3 skin & muscle biopsies, including a biopsy on her brain.
Duke came to the conclusion that a second opinion was required and they referred her to John Hopkins in Baltimore. They were unable to help. Duke then reffered Brianna to the Mayo Clinic in Rochester, MN who had a 2 year waiting list. Another refferal was sent to the National Institute of Health in Bethesda, MD to the Undiagnosed Disease Program. Out of thousands of referalls and only accepting 100 new patients per year, Brianna was selected.
After exhautive testing and nearly 7 years of regression with no diagnosis, the National Institute of Health called me with the devistating news that Brianna has been diagnosed with Batten Disease CLN6. While the frustration of not having a diagnosis for so long is gone, the heartache continues as there is no known treatments or cure for Batten Disease. It is always fatal.
I hope that you all keep Brianna in your prayers!
Until next time...
Brianna, Tammy, Austin and Ollie (our dog) xoxoxoxoxo