Yesterday morning, Matt and I took the kids to NIH for an appointment with our geneticist. She has been the kids' doctor since we moved back to DC almost 3 years ago. She left Children's last year and we decided to keep things simple by staying within the Children's system and transferred to another geneticist. Big mistake. First impressions were not good. He hardly took any time for the appointment and he felt like his role was simply in the diagnosis and not in their care. I called our former geneticist and she was happy to see the kids at NIH. Praise God!!
She is a fantastic doctor, well versed in lysosomal storage disorders. She gave us 3 hours for the appointment!! She oversees all aspects of their care, which is exactly what we need. And she is always on the look out for news involving Sanfilippo research. I can email or call her, knowing I will always get a timely response.
I am so thankful we have her as the head of our medical team. I left the appointment relieved to have someone so knowledgeable helping me make decisions.