Finding Answers Through Genetic Testing – A Personal Journey

This personal story is shared through the eyes of Kim Miller, mother of Jasey. She shares their family’s journey to her daughter’s diagnosis through gene-based testing. 

When our daughter Jasey was born, like most parents, it was a time of joy and excitement. However, happiness was quickly overshadowed by tears, questions, and prayer early in her life. When she was just a week old, Jasey stopped breathing and had to be hospitalized.

We spent a few weeks in the hospital as the doctors worked to determine why she continued to stop breathing. She would be released from the hospital—only to return a few days later and stay for a month. Jasey stopped breathing nine times within the first two weeks of her life. She was diagnosed with seizures and was placed on a seizure medication and a breathing monitor.

As Jasey continued to get older, we noticed that she was not hitting milestones that other children her age were reaching. She began physical therapy and then added speech and occupational therapies to help with her developmental delays. In addition to developmental delays, she was diagnosed with failure to thrive, meaning her growth and weight gain were not what they should be.

Her pediatrician referred us to a local hospital for genetic testing. Jasey went through numerous genetic tests over the next few years of her life. Nevertheless, we were still without an answer. I started researching children’s hospitals that specialized in genetic research. I contacted Cincinnati Children’s Hospital, where they performed an MRI on Jasey’s brain and whole exome sequencing. Exome 29 sequencing identified a variant in the gene known as PACS1, a rare genetic mutation—so rare, in fact, that Jasey was only the third person in the world to be diagnosed with this mutation at the time. Jasey continues to receive physical therapy, speech therapy, and occupational therapy. She is making great progress. She is a walking miracle. We are continuing to work with Cincinnati’s Genetics Department in our quest to learn more about this mutation.

Global Genes has created a series of toolkits, videos, and checklists to share insights from rare advocates and experts who have personal experience – professional and personal. This patient story was featured in our genetic testing toolkit, Getting To A Diagnosis. Find more information and download all four free Genetic-Based Diagnosis toolkits and other resources here.