Angela was 4 years old when she suddenly started to have seizures, unusual eye movements, developmental delay, and more. Her mom and dad spoke to lots of doctors who just diagnosed her with epilepsy. She was prescribed and tried multiple Anti-Seizure Medications (ASMs), but, unfortunately, none of them could control her seizures.
Angela's communication difficulties
An extra barrier for Angela was communication.
At the age of 4 and with her developmental delay, it was really hard for her to explain to her parents and the neurologist what she was going through. She couldn’t explain how she felt about her seizures and not having control of her own feelings and movements. Her parents were very conscious of this and the upset it caused on both parties was immeasurable.
Feeling lost and helpless, Angela’s parents decided to have her genome fully sequenced and analysed by Dante Labs.
When submitting the sample of Angela’s saliva they also provided Angela’s invaluable medical history, including her cognitive and physical symptoms, plus her epilepsy diagnosis. After 12 weeks, Angela’s parents received a comprehensive report titled “Epilepsy and seizures associated with neurological conditions”, which included a full analysis and explanation of the 128 specific genes known to be involved in the epilepsies.
The value of the WGS report
What came out of the Whole Genome Sequencing (WGS) report was like nothing else. Angela’s parents presented the report to a geneticist for their opinion and to find out what they would recommend as next steps. The geneticist found the report so informative that he was able to make a positively life-changing diagnosis for Angela. Angela had been found to have a variant in her SCL2A1 gene and was diagnosed with the rare epilepsy GLUT-1 Deficiency Syndrome. Explained by the geneticist: GLUT-1 impairs a person’s brain metabolism, leading to a shortage in the supply of glucose to their brain, resulting in seizures, impairment of brain function and growth.
Now with her precise diagnosis there have been huge positive changes to Angela’s life and indeed the lives of her parents! No longer does she have to waste time trying drugs that won’t help her. Instead, with the help of a specialist dietician she is following the ketogenic diet, has reduced her ASMs, her cognitive function has improved, and she is having far fewer seizures! Now Angela and her family can look forward to the future with a smile.