Coming up big for Kleefstra Syndrome Down Under
Just over a year ago, we shared how after their daughter, Gabby, 4, was diagnosed with Kleefstra Syndrome, Vanessa and Simon Khoury of Sydney, Australia began pursuing the creation of a Kleefstra Clinic at Sydney Children’s Hospital.
That goal has been accomplished and 18 families – all but one from the eastern state of New South Wales – have now been seen by the clinic’s genetics team with two other families slated for appointments.
“It’s amazing,” said Vanessa. “We feel like we are really being heard since Gabby’s diagnosis and it means so much better care for families.”
Dr. Emma Palmer, a clinical geneticist at Sydney Children’s said, “We started the clinic as we saw how families were really struggling to get connected care, and also as we had heard from our colleagues at the Boston clinic that there were exciting clinical trials on the horizon, and we really wanted to get our families in the best possible position to participate in these trials in the future.”
This is exactly what Geoff Rhyne, IDefine CEO, envisioned when championing the idea of a network of Kleefstra Clinics.