How Alamya Health used whole genome sequencing to uncover the cause of Adam’s seizures and learning challenges, guiding his family to the right treatment and support.
Searching for Answers to Complex Symptoms
As a toddler, Adam had several seizures associated with fevers. He later developed more and more seizures without fevers. Although his early development was typical, he had difficulty focusing and keeping up with more demanding classwork as he grew older. He also struggled with fatigue (unable to play like most little boys), blood sugar dysregulation, GI issues, and low mood. Hoping to provide the most effective treatment to address his health and learning issues, his parents were motivated to determine the underlying reason for his health issues, especially as previous genetic testing failed to yield an answer.
Pinpointing the Genetic Change
Using whole genome sequencing, Alamya Health identified the underlying genetic change responsible for his health and learning concerns.
From Struggle to Support
A confirmed genetic diagnosis provided Adam’s parents with an answer for their son’s seizure disorder and learning issues. They were able to use this information to review published reports and to access expert guidance for the best treatment and support for their son – in essence, ‘the right treatment for the right patient’. They can now also benefit from the knowledge and support of other families impacted by the same genetic condition as well as help other families that are at the beginning of their diagnostic journey.
