Any families who would like to be on contact with others who have children with mutations in eEF1A2 are welcome to join a Facebook group set up by Kari Haldeman. Kari has a child with the condition- you can find her at karihaldeman23 at verizon dot net.
Thanks to Invitae we have been able to set up a patient registry for EEF1A2. You can find the registry here at Patient Crossroads. Registries are so important for research, so that we can begin to look at the different mutations and collect information on their effects. In this way we will be better able to predict which mutations are likely to be milder and which more severe. With your help, we will be able to track outcomes, pull together information about which drugs help and which don’t, and ultimately design better therapeutic strategies and develop new drugs. Registries are also used as a way of recruiting patients for clinical trials.
Please register and contribute to this effort. Your help is vital- thank you!