Helsmoortel-Van Der Aa Syndrome

Sandra’s son. Tony is an adorable little boy who was born as a healthy twin along with his brother Rocco. However, at 2 weeks old we were told that Tony had a very rare congenital defect, and we were sent to genetics and a long list of other specialists. And so began our journey with [...]

“His constellation of symptoms does not match any known disorder or syndrome.” I can’t tell you how many times I heard this exact sentence from every doctor and specialist my son saw in our two-year journey seeking a diagnosis. We would leave appointments crying and angry because they just didn’t seem to care enough. He wasn’t [...]