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Born: 2020 

Country: United States  

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Journey to diagnosis

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Olivia (Liv) has kept us on our toes since day one! Liv was our second pregnancy and the child that would complete our family of 4. Her older sister was a full-term healthy pregnancy and we were eager to have two sisters under our roof. Thankfully for us, they discovered that Liv was measuring behind coincidentally on a routine 26-week scan. She was diagnosed with IUGR and monitored for 3 weeks by a Perinatologist. We were always told to monitor for any cessation of movement in the womb. One Friday night it became clear that her kicks and wiggles had dramatically decreased. Liv ended up being born via emergency C-section at 29 weeks the following day.

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Her NICU course was complicated with multiple pneumothoraces (collapsed lungs), a left hemidiaphragm paresis, and ultimately bottle-feeding challenges. We were always told this was a unique and rare NICU journey but were just so glad to bring her home after 3 months in the NICU, albeit with an NG tube.

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Being that Liv was premature, we expected some level of developmental delays. God is good and we were able to get her into Physical Therapy from the moment she came home from the NICU. She weaned from the NG tube and was never a great bottle feeder, but we managed. After about 6-8 months of being home, it became clear that Liv’s delays and challenges were out of proportion to her prematurity. She wouldn’t move, couldn’t keep a pacifier in her mouth, among other things.

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We began our quest to investigate further. We eventually were able to get an MRI of her brain which showed a thin corpus callosum and diffuse white matter volume loss. She was diagnosed with mild cerebral palsy, but doctors always suspected an underlying genetic cause. The CP explained her delays with speech and motor coordination/balance, but Liv remained very small and could not catch up with her growth. We also experienced significant feeding challenges and gagging. Ultimately, she was diagnosed with a de novo CUL3 mutation, meaning it was not inherited from her father or me.

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Reflections & hopes for the future

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We have been so fortunate to be blessed with an amazing team of therapists and have seen firsthand the benefits of early intervention. Liv does Physical Therapy and Occupational Therapy multiple times a week. She is also in Feeding Therapy, Speech Therapy and Aquatics. She is currently taking Humatrope (growth hormone) and we give her an injection every night. Anecdotally, it seems to be helping with her growth so far. She weighs 20 lbs and is 31 months old. She lacks an appetite and is still unbalanced and falls frequently. She has come a long way with her sensory processing but struggles somewhat with sequencing, attention, and executive function.

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Liv is the most resilient person I have ever met, and it is an absolute joy to have her in our family. She loves people and adores her older sister. She has overcome so much, and we truly believe her life is a miracle. We give thanks to God for giving her life and trust His perfect plan for her. To Him be all the glory!

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