Every day we hear from families about what a difference a genetic diagnosis made in their lives. Here’s what they have to say.
January 31, 2025 • 3 min read
The diagnosis gave me more peace of mind, less fear, less worry, less pressure on myself.”
-Parent of child with Labrune Syndrome
The diagnosis eased my fears.”
-Parent of child with epilepsy
It was literally one of the most relieving experiences of my life.”
-Parent of child with X-Linked Intellectual Disability, Cabezas Type
Her diagnosis gave us peace of mind as far as a confirmation that we weren’t imagining she wasn’t meeting her milestones.”
-Parent of child with epilepsy
The ability to share news, tips, and advice is invaluable, as is the support from those who have shared the grief, hope, and love that comes with having medically complex children.”
-Parent of a child with a variant in the CDKL5 gene
Getting that genetic diagnosis led us to our tribe, as we call it, and resources we didn’t have before.”
-Parent of child with epilepsy
It allows us to reach a bigger community and get questions answered.”
-Parent of child with epilepsy
If we had a diagnosis six years earlier, I could have started my foundation six years earlier and started raising funds for research back then. We lost six years; that’s research time we can’t get back and are six years further away from finding a cure.”
-Parent of child with LCC
The sense of relief I got from finally getting a diagnosis was overwhelming. We found hope and a path forward.”
-Parent of child with epilepsy
Although we understood there was an uncharted road before us, we finally had a name, a diagnosis and a way to conceptualize our experience with our son.”
-Parent of a child with a variant in the CUL4B gene
Getting a diagnosis gave me my power back. I realized this wasn’t my fault.”
-Parent of a child with a variant in the MED13L gene
It was a huge weight off our shoulders knowing what it was.”
-Parent of child with Pelizaeus-Merzbacher disease
In getting the genetic diagnosis, truly, our lives were changed. We held on to a lot of bitterness from his birth and all of the injuries that coincided with it. But it turns out that his disease was actually the issue. It was nobody’s fault.”
-Parent of a child with a variant in the PLP1 gene
Genetic testing not only gave us an answer but also helped us with medications, so we knew which would not work because it would affect that specific gene.”
-Parent of a child with epilepsy
It helped us understand the why behind what we are seeing.”
-Parent of a child with epilepsy
Getting a diagnosis led to us getting connected with a physician researching our disorder.”
-Parent of a child with epilepsy
Learn more about GeneDx comprehensive genomic testing and how you and your family can access genetic testing.
Note: Parents’ names have been omitted to protect patient confidentiality.
