A Purpose Driven Life
Eleanor is our spunky, loving, and creative four years old. She was diagnosed with SYNGAP 1 at the end of 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 four months were spent in a hip harness, followed by a cranial cap for flathead. She also received physical therapy for torticollis as an infant and visited the feeding clinic to help her swallow even the simplest of baby foods. Yet, she was the happiest baby, despite these challenges. She has always been a super trooper in tolerating new things(We are fortunate!) 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 came back normal.
After seeing every imaginable doctor and specialist, we returned to genetics, who referred us for 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. 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 when I hear her say, mommy and daddy.
Soon after a recent visit, an assessment with a neuropsychologist said that her receptive language is average for a 33-month-old. Still, her expression 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. They shared with us her brain would shut them down. Therefore, she was on a low dosage of Keppra, which she seemed to tolerate just fine. Our daily struggles stem from Eleanor's inability to communicate when upset or frustrated with something. The most challenging part is seeing her bang her hands against her head 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 herself. We have a long road ahead as we seek more tailored speech therapy, O.T., and P.T. Eleanor continues to amaze mom and dad with her perseverance. Even her doctors, therapists, and preschool teachers comment on what a hard worker she is. Her outer strength and muscle tone might be weak, but the courage and commitment she has inside her cannot be broken or beaten. We both believe she was given to us for a purpose and have learned so much from her!
