Almost two year old Rafaella has type 2 AGS. She lives with her doting parents, four year old brother (all AGS carriers) and their scruffy mutt in Brooklyn, NY. After meeting 30-40 doctors and specialists in 5 major Northeast hospitals over the course of seven months, finally one on-call neurologist suspected that Rafa may have AGS because he had seen one other case 10 years prior. They waited another five months for genetic confirmation and finally had a diagnosis just before her first birthday, after a year of devastating neurological and nervous system damage had already taken place.
Rafa has been doing well all things considered (cortical visual impairment, global development delays, sensitive gastro system, dystonia, acquired microcephaly, hypotonia, etc) and is writing her story slowly but surely. Her family is fully immersed in complementary holistic and integrative therapies and nutrition and she is now under the expert care of the Leukodystrophy Center of Excellence at CHOP, where she started a compassionate use drug trial in April. Rafaella's incredible resilience and determination inspires her family to approach this diagnosis armed with lots of research, creative thinking, and rational optimism.