Our Journey to Diagnosis

By Kylie Harrison

“Two of your children have a fatal, untreatable disease. They are dying.”  

Imagine hearing these words from your child’s doctor. This is the news we received about our two beautiful daughters, Kinley (7) and Kennedy (4), the morning after our third daughter Kieran was born. Without warning, we were faced with the sobering realization that our baby girls are dying.  Before this disease takes them, Kinley and Kennedy will very slowly lose their ability to walk, talk, eat … and even smile.

We have been on a 4 year journey trying to understand what might be causing the developmental delays Kinley has been experiencing.  After countless appointments and evaluations with specialists from nearly every medical field, we finally received our answer on June 5th 2020 – the one we never saw coming. A full genetic screening revealed that not only Kinley, but her younger sister Kennedy both have an extremely rare genetic disorder called GM1 Gangliosidosis.  We are forever thankful that baby Kieran is not affected by this wretched disease.

The diagnosis took so long in part because important symptoms, like the white matter found in Kinley’s brain, were dismissed. The genetics testing that was ordered would not have caught the disease were it not for the fact that their insurance required a wider panel than our genetic counselor recommended. We perhaps got lucky in that regard.

However, the initial diagnosis wasn’t entirely correct. Per the genetics test, we were originally diagnosed with late infantile form, and we were told their life expectancy was until their early teens, which it turned out is not true. They actually have juvenile GM1 and could potentially live into their 30s. It just emphasizes that it’s a rare enough disorder that you can get wrong information even after a diagnosis.

Learn more about Kinley and Kennedy in the video below: