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Olivia
Located: United States
Symptoms: Behavioral challenges, Cognitive disabilities, Developmental delays, Distinctive birthmarks (back of head and neck, between eyes), Heat intolerance, Hypermobility, Hypotonia, Long eyelashes, Overgrowth, Seizures, Shudder attacks, Sleep apnea, Thick, horizontal eyebrows
that she was formally diagnosed with hypotonic cerebral palsy and we then did genetic testing and discovered that she has TBRS (de novo). Immediately, I joined the TBRS Community and it all began to make sense. From the large size at birth, the overeating and large stature, tiring very easily, distinctive facial features, and more.
Even with the amount of challenges Olivia has faced since birth, she is still the most delightful, happy, thoughtful, compassionate child. She has come such a long way and has made such great progress. She is still considerably behind other children her age, but she never gives up. She is very social, has an adult vocabulary, can remember entire books or songs after hearing them once or twice, and loves singing and playing make believe. She is very observant, compliments others often, and loves to give hugs and kisses.
We have a long way to go. Olivia is still very young, and we discover new challenges every day. With every bit of progress (we have mastered going down the stairs on our feet!) there are new delays (drawing diagonal lines, holding and cutting with scissors, recognizing letters and sounds). We are very blessed that we have a real diagnosis, and more importantly a community of people who understand the ups and downs. The support of other parents who have been where we have been and can give advice and guidance is immeasurable.
Written by Olivia’s mom Amy.