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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

After a fairly uneventful pregnancy, Olivia was born three weeks early. She was my largest baby at 8 lbs 9 oz. She immediately stopped breathing and went from purple to blue to grey. She was intubated and taken directly to the NICU. She was on oxygen for a few days and also had issues with feeding, regulating body temp, fever, and jaundice. After seven long days, she came home. She did have some issues with acid reflux as an infant, but the first time I noticed something was wrong was when she didn’t start smiling until about 13 weeks—a little more than double the time it took my other girls. She also didn’t hit other developmental milestones on time (supporting her head, siting up, bearing weight on feet). At 12 months, we contacted Early Intervention and she began to see physical, occupational, speech, and aqua therapists. She started butt scooting at 20 months and didn’t walk until 31 months and that was with both AFOs and a walker. Aside from her gross motor delays, she also experienced fine motor and speech delays, seizures, shudder attacks, tremors, heat intolerance, and sleep apnea, among other things. We saw many doctors over the last four years, including neurologists, geneticists, developmental specialists, orthopedics, etc. We received diagnoses such as developmental delay, hypermobility, benign congenital hypotonia (which basically meant they had no idea. Hypotonia is a symptom not a diagnosis). After many tests including MRIs, EEGs, and sleep studies, we decided to take her to Boston Children’s Hospital to their Hypotonia Clinic for answers. It was there

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.

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