Hillary's Story

Hillary is 18 years old and lives in Indiana with her parents and two brothers. She

was born healthy and came home right away in 2007.

When Hillary was just 10 weeks old, her mother noticed a cloudiness in her pupils. Concerned, we took her to her pediatrician, who referred us to our local children’s hospital. Her ophthalmologist told us that Hillary had bilateral cataracts. She had her first surgery to remove them at only 12 weeks old.

Because cataracts in infants can sometimes signal a more serious underlying condition, her ophthalmologist ordered a series of genetic tests. Everything came back normal, and we hoped it was simply a rare, isolated case.

When Hillary turned three, we began noticing other issues that worried us. Over the years, we did countless rounds of testing, saw between 12 and 15 different specialists, and yet every result came back inconclusive.

In 2019, we decided to try genetic testing again and this time we finally received answers. Hillary was diagnosed with Harel-Yoon Syndrome, also known as an ATAD3A gene mutation. She was the eighth diagnosed case in the entire world. It took so long to find answers because this condition was only discovered in 2016.

Her father and I later learned that we are both carriers of the gene mutation, which means each of our children has a 25% chance of being affected.

There is currently no cure, and it makes Hillary’s daily life incredibly challenging.

I will never forget the day we received her diagnosis. It felt like a double-edged sword. After years of searching, we finally had a name for what she was facing, but it came with the crushing realization that so little was known about it. I remember going home that night and desperately searching online for information, only to find almost nothing.

Hillary faces many challenges such as, ataxia, fine and gross motor delays, tremors, feeding difficulties, and several other symptoms. Yet, through it all, she continues to amaze us with her courage, her determination, and her beautiful spirit. We pray every single day that continued research will lead to a cure not only for Hillary, but for all the others who share this rare and difficult journey with her.