In the rare disease world you must be careful about choosing specialists. With Krabbe, there are few doctors who have had any experience with it, and only two I would consider to be experts: Dr. Maria Escolar at Children’s Hospital of Pittsburgh, and Dr. Joanne Kurtzberg at Duke University.
Dr. Escolar was such a wonderful and crucial part of our journey, offering her expertise with each visit, phone call, email, or text. She consulted with all of Tori’s local specialists to ensure that they knew how to care for her, and for that we are so grateful.
Hunter’s Hope Foundation and their Leukodystrophy Care Network are working to make more doctors aware and able to care for children with leukodystrophies, and they are also in the process of publishing clinical practice guidelines so that each child can receive the same recommendations and care no matter where they are seen. You can read more about their work here.