January 2017 Family Spotlight:"A Purpose Driven Life"

Eleanor is our spunky, loving, and creative four year old. She was recently diagnosed with SYNGAP 1 at the end of this August, 2016, following the results of Whole Exome Sequencing through Children’s Hospital in St. Paul, MN. Eleanor was born a week overdue, with hip dysplasia and jaundice. Her first 4 months were spent in a hip harness, followed by a cranial cap for flat head. She also received physical therapy for torticollis as an infant and visited the feeding clinic to help with swallowing even the simplest of baby foods. Yet, she was the happiest little baby, despite these challenges. She has always been a super trooper when it comes to tolerating new things(We are very lucky!) It wasn’t until we noticed she wasn’t crawling or making “typical” baby sounds that we reached out to our school district and began the birth-three program. Eleanor didn’t start crawling until very late and didn’t walk until around age 2. Around age 2, she had her first MRI, followed by a one hour EEG, both coming back normal. We were then directed to see a genetic doctor who referred us to genetic testing. They told us they were looking for Fragile X and Angelman Syndrome. Again, all tests came back normal. But Eleanor was NOT normal. After seeing every imaginable doctor and specialist, we went back to genetics. Through a special grant, we received the whole exome sequencing this past May where we got our answer. She is non-verbal, but has started to use a talking app to choose foods at mealtime, which she loves to do! I pray for a day in the future where I will hear her say mommy and daddy.

After a recent visit and assessment with a neuropsychologist, we were told that her receptive language is average of a 33 month old, but her expressive is at the developmental level of a 4 month old. Our most recent 24 hour EEG revealed there were little spikes, but no seizures. These happened when she would close her eyes, about once every hour. We were told her brain would shut them down. Therefor, she has been placed on a low dosage of Keppra, which she seems to tolerate just fine. Our daily struggles really stem from Eleanor being unable to communicate when she is upset or frustrated with something. The most difficult part is seeing her bang her hands against her head as a way to show her frustration. We practice basic skills like using a spoon, holding the cup with both hands, dressing, and rejoice in the little (BIG in our eyes) successes like when she can take her shoes off by herself. We have a long road ahead as we continue to seek out more tailored speech therapy, O.T, and P.T. Eleanor continues to amaze mom and dad with her perseverance. Even her doctors, therapists and pre-school teachers comment on what a hard worker she is. Her outer strength and muscle tone might be week, but the courage and commitment she has inside her cannot be broken or beat. We both believe she was given to us for a purpose, and have learned so much from her!