First CHARGE diagnosis in Tasmania

We had another appointment with the geneticist today and told us today that while looking up unrelated information back in his office he found that Raphael was now the first case of CHARGE syndrome diagnosed in Tasmania. We had a stack of questions for hom and he kindly dedicated the necessary time to handle each of our questions in the depth that we wanted to cover them. They ranged from what more tests are required to look for CHARGE conditions, to educational requirements, to how can we improve the quality of his life, and many more.

An email from the geneticist

After doing some reading on CHARGE syndrome, Annie was convinced that Raphael had CHARGE. She emailed the geneticist to ask him about what she had found and he replied saying that he had gone over the MRI in more detail and he now thought that it was “very likely” that Raphael had CHARGE.

Geneticist Appointment

Some time ago our paediatrician arranged for a visiting geneticist to see Raphael with the paediatrician present as well, but as the geneticist only visits once every two months this was the first chance that we had to see him. He had a chance to scan over the MRI report and he concluded that the only condition that was close to Raphael’s condition is CHARGE syndrome, but he did not think that this fitted enough. The paediatrician and geneticist organised to run a CT scan to do further tests to see if there is anything wrong with his ear bones that the MRI hinted at.