Alexandra Gaudlap, the founder of VAMP2.org and the Raging Raymond Foundation, discusses her son’s VAMP2 diagnostic journey.
VAMP2 stands for vesical-associated membrane protein 2. The VAMP2 gene encodes it. The protein is expressed in neurons and is involved in synaptic transmission. Children with mutations in the VAMP2 gene have a variety of symptoms that may include:
- Neurodevelopmental delay
- Hypotonia
- Autistic or Rett Syndrome-type behaviors
- Epilepsy
- Visual impairment
As noted by Alexandra, an early exome panel did not show any abnormalities in her son Raymond. However, developmental delays, along with data showing he was having minor seizures every day, did lead the family to enroll in the National Institutes of Health (NIH) Undiagnosed Disease Network, which eventually led to a VAMP2 diagnosis.
There are currently no treatments, nor treatments in clinical development for this genetic condition. However, preclinical studies are underway to better understand this condition that can lead to targeted therapies, including the possibility of gene therapy.
For more information about VAMP2, go to ragingraymondfoundation.org/vamp2 or vamp2.org/
To stay up-to-date on this and other rare genetic disorders, visit checkrare.com/diseases/congenital-and-genetic-conditions/