Meet Abby Grace
Abby is 11 years old and in middle school. She developed normally until around age 5, meeting the usual childhood milestones. At the age of 5, she began to show a decline in her intellectual ability. She started having trouble with her memory and learning basic kindergarten skills. Initially we thought she had a moderate developmental delay. We thought we would get her caught up with her peers and worked with her continuously.
When she started 1st grade, it was evident that there was truly something more going on with her than just a developmental delay. We began with testing through the school system and then went to a Neuropsychologist for more in depth testing. We were surprised to find that she had a very low IQ score since she was very outgoing and social. There was no definite cause for her delay found so she was referred to a Neurologist and a Geneticist to rule out any genetic cause. The Neurologist found no definite cause for her delay and her Genetics appointment was scheduled for over 6 months out.
We decided to go to UNC Chapel Hill to see a Neurologist for another opinion. It was there that a physician recommended her being tested for a condition which causes a Neurological decline in children. Following 2 years of testing, in April of 2013, our worst fears became a reality. Abby tested positive for the rare childhood genetic condition known as Sanfilippo Syndrome Type IIIA, also called Mucopolysaccharidosis (MPS IIIA). She was born without a vital enzyme that breaks down complex carbohydrates in the cells. Over time, the waste products build-up and cause progressive brain damage.
Without a treatment or cure, children lose their ability to walk, talk and feed themselves. They often lose their hearing, have visual difficulties and have seizures. The children regress to an infant or toddler stage and require total care. The typical life expectancy is between 10 and 20 years old.
Abby is a vibrant, loving, and active little girl. She does not realize that she is different from her peers. She loves anything Disney related and going to the beach. She loves to watch YouTube videos of children opening their Christmas presents or getting surprise trips to Disney. She loves to dance, sing, cheer and entertain. She is in her 9th year of dance and especially loves ballet, tap and hip-hop. She participates in Therapeutic Horseback Riding and receives Special Education at school outside of her regular 4th grade classroom.
Currently, Abby has difficulty with her cognitive learning skills and speech articulation. She continues to be able to walk, talk, feed herself, write and navigate her computer. We know that brain damage is slowly occurring and pray for a cure or treatment for our sweet daughter. It saddens us to think of the future without Abby. We have made it our mission in life to love Abby as if there was no tomorrow, raise awareness of Sanfilippo Syndrome, and raise research funds for a cure.
We have come to love many children and families that suffer from Sanfilippo Syndrome. We have met other families that live in a close proximity and also at the yearly National MPS Family Conference. We join them in fighting for a cure. There are families that have been fighting for years and have paved the way for the research that is currently underway.