Hope

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4 years old
Redding, California

Hope was born in July of 2019. She wouldn’t cry. She slept through the night from day one. Though most parents would love this, it was a major issue, as she needed to eat. By the time she was three months old, Hope was visiting the doctor’s office weekly. She was diagnosed with torticollis and fitted with a helmet.

She started missing major milestones at 9 months and was referred to Far Northern where she received physical, occupational, developmental, speech, and feeding therapies every week. When Hope turned 1, she finally was able to sit up on her own, but I could see that something was wrong with her back. X-rays of her spine showed a 31-degree curve in her spine.

I was told if they didn’t do something extreme, it would crush her heart and lungs. So at 15 months old, Hope was placed in a body cast for 14 months. Every 2 months she would go back to Shriner’s Hospital and be taken to the OR, put under general anesthesia, and her spine would be stretched, twisted, and recast. It was called elongation derotation flexion (EDF) casting. During this time she also struggled with hypotonia, feeding issues, failure to thrive, and developmental delay. 

Hope dropped to less than the 1% percentile in weight and was still wearing 12-24 month clothes at age 3. She had a feeding tube installed in September 2022. We started seeing what we now know were drop seizures and absent seizures in August 2023 at age 4. In October 2023 she was diagnosed with Autism. I knew of many high-functioning individuals with autism, so I wasn’t overly alarmed. I received her SYNGAP1 diagnosis on 11/27/23 eight months after running the genetic testing.

Hope is in her second year of pre-K in a transitional school and loves it. She surprises me daily with what she can do. Hope has some words, but her fine motor skills and other development are at a 2-year-old level. She has limited screen time (it increases her aggression) but loves sensory toys and mirrors. She loves looking at herself!

Hope sleeps well, but does not nap. She is obsessed with Curious George, and her happy place is outside. If you add water, Hope is in heaven. Her favorite thing, though, is riding in the car. She says, “Car, car, car, GO!” And so, on we go, in search of a cure.

Hope is a fighter and doesn’t let much keep her down. She is my purpose in life, so I haven’t let her diagnosis keep me down either. We’re taking a cross-country trip to participate in three studies and meet other SYNGAP1 families along the way. Hope is a traveler, and I plan to make it an experience of a lifetime.