Spectrum of Love

Program: HNRNPH2

Anais’ Story:

Anais loves walks, playing in the water, and Peppa Pig. She has a smile and giggle that can light up any room. Anais is very loving and works hard, receiving multiple therapies including ABA, speech, PT and OT. Anais’ parents, along with her team of therapists, are dedicated to ensuring she receives the care she needs.

Anais was born a seemingly healthy baby. Nothing about the pregnancy or her birth appeared out of the norm. However, as the months went on, it became clear that she was not meeting developmental milestones. She didn’t crawl until she was one, didn’t walk until she was two, and still struggles with her gait. Although she said her first words on time, she gained very few and lost them all by age four. Initially, her pediatrician was not overly concerned, so her family sought out a developmental pediatrician.

At the age of two, Anais was diagnosed with Autism and Global Developmental Delay. Genetic testing was conducted at that time, but a full genetic panel was not run. As a result, her HNRNPH2 genetic disorder was not discovered until she was six years old, when a new neurologist recommended whole exome sequencing. In the meantime, her family was left without answers as Anais continued to experience regression in skills, self-injurious behavior, severe anxiety, and a seizure that led to hospitalization.

This journey with Anais has been filled with fear and worry about her future, but her perseverance, radiant smile, and endless requests for hugs and kisses serve as daily reminders to stay positive and hopeful.

* In 2024, Anais received her first dose of a personalized experimental ASO medicine discovered and developed by n-Lorem