I heart him


Great news on Ben’s heart. His cardiologist had nothing to say about his ECHO. His heart was described as “perfect”. Amazing! He is such a fantastic little boy. This is him during his ECHO, 2 years old and did not need sedation. He got by with the help of Signing Times on DVD.

That same day he also had his genetics appointment.  Looks like there are now 2 other persons in the data base that doctors have access to that also have a variant in the ZNF462 gene. From the limited information that is available to them they were able to determine that they also had craniosynostosis and they have issues with a droopy eye as well. So what’s next? I filled out a consent form to allow her to share information about Ben with the other doctors. She will also be sending pictures of Ben to see if the other people affected look similar to him. I let her know that she can share my information with the other families if they want to reach out directly to me. She really feels like we are on our way to finding out more about Ben’s affected gene. It’s exciting but scary too. This will not be a quick and efficient journey for us but I hope someday it can be for other families looking for answers.


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