Kinzie’s Story

Kinzie is 9 years old and lives in Fishers, Indiana with her family (mom Alicia, dad Randy, big brother Kai and little sister Caroline). When Kinzie was born, she was a healthy and beautiful baby. She had some minor feeding issues while nursing and had her tongue-tie clipped as a newborn. When Kinzie was around 7-8 months old, I noticed she had stopped tracking me across the room and was drawn to lights. Once seen by her doctor, it was determined she had cataracts in both eyes. This was our sign that something was wrong as children are not born with cataracts without an underlying condition. Kinzie had many test performed which eventually led to her undergoing a full exome sequencing. She was diagnosed with Harel Yoon Syndrome (HYS) in 2017. It turns out that Randy and I are both carries of this mutation and unaffected. However, our children have a 1 in 4 chance of having HYS. We received Kinzie’s results after finding out we were pregnant with Caroline, her sister who also has HYS…her story to come.

Kinzie was examined by many specialists and immediately enrolled in therapies to help her with her speech, fine and gross motor skills. She engaged in developmental preschool until she was school aged to help prepare her for traditional school. Kinzie struggled to gain weight and had a g-tube placed when she was 3 years old. She struggled tremendously with the g-tube for a little over a year before her body could tolerate her feedings. She now takings her feedings like a champ and eats a very little by mouth for pleasure. Kinzie had her cataracts removed at age 6 and now sees the world through clear eyes.

Kinzie is in third grade and struggles with some cognitive delays due to HYS. She is working on basic principles such as counting to 20, letter and sound recognition and writing her name. She loves learning and being around her classmates. She loves engaging in Girl Scouts with an incredibly supportive and inclusive group of girls who have embraced Kinzie as a wanted part of the group.

Kinzie is spunky, hilarious, silly, tough, brave and the most joy-filled person. Despite having to be poked and prodded routinely in her life, she maintains the most positive attitude and faces each day with a huge smile. She struggles with maintaining her energy on some days and can require additional rest just to make it through. However, she loves life, dogs, babies and her people. As her vocabulary grows, she amazes me with her quick comebacks and well-timed remarks. We remain hopeful that treatment and research will continue so Kinzie can live a long and fulfilling life.