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Caroline’s Story

Caroline is 7 years old and lives in Fishers, Indiana with her family (mom Alicia, dad Randy, big brother Kai and big sister Kinzie). Caroline is our Christmas baby sharing a birthday with baby Jesus, and she will not let you forget it! When Caroline was born, we were of course concerned that she could have Harel Yoon Syndrome as we had learned that her sister Kinze had inherited HYS and there was a 25% chance that Caroline could have it as well. However, we thought, what are the odds we would have two kiddos with HYS?! Contrary to Kinzie, Caroline was a great eater and appeared to be developmentally on track until one day, when she was about 4.5 months old, she had extreme and sudden nystagmus in her eyes. Due to Kinzie’s diagnosis, the geneticist immediately tested Caroline for HYS and it was confirmed.

Due to the nystagmus in her eyes, she was immediately seen by an ophthalmologist and it was confirmed she had cataracts as well. Her cataracts were removed at 5 months of age, and we entered the world of a baby wearing contacts. Due to her young age at the time of surgery, she has not had lenses put back into her eyes and will eventually require an additional surgery for this. Caroline began therapies immediately upon diagnosis and is fairly “typical” in her development although she struggles with sensory sensitivities to loud noises, large spaces and light flashes. She is small for her age, but she eats well most of the time and is particularly obsessed with ranch dressing. She is currently dealing with severe central sleep apnea and trying to get used to wearing a bi-pap mask to sleep. This has been a huge struggle.

She is in 1st grade and loves learning. Caroline is the brightest ray of sunshine. She sings and prances through her days and is very smart. Caroline involvement in girl scouts and wants to participate in gymnastics and dance. We are hopeful for the future and the steps being taken to organize this groups to allow for more targeted research to help Caroline grow and remain her happy and wonderful self.

 
 

ATAD3A

Patient Advocacy Alliance

This organization is organized exclusively for charitable, educational and scientific purposes under section 501(c)(3) of the Internal Revenue Code, or corresponding section of any future federal tax code. Our Employee Identification Number (EIN) is 39-2212699.

 

Our website and related activities are led by volunteers to support other people with ATAD3A mutations/Harel-Yoon Syndrome and their caregivers. The information we provide is for general informational and educational purposes and is not a substitute for professional medical advice. We are not formally affiliated with any medical or research body, and all our information is based on our own understanding of the research and our own experiences.

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