One Girl’s Diagnosis Inspired a Foundation for Children with Sanfilippo Syndrome

On the pages of the Abby Grace Foundation website, you will find over twenty beautiful pictures of different children. Most of the children are smiling. One looks into the camera with an expression of eagerness while punching her thumb into the air. Another holds a doll with straw blonde hair. Another young child sits in a wheelchair smiling at the photographer with a cup in her hand.

These children are from all over the world, in different settings and different poses. The one thing that ties them together however is that they have all been diagnosed with Sanfilippo syndrome. Not only can you find these pictures of beautiful children on the Abby Grace Foundation website, but you can also learn more about Sanfilippo syndrome and become a part of the search for a cure for these children and the thousands more who have the disease.

The story of Sanfilippo syndrome starts in 1963 when a Dr. Sanfilippo first discovered a genetic disorder that affects only one in every 70,000 births. It is most often passed down from both parents. Each child of the two carrying parents has a 25% chance of having this disease. There is a 50% chance of the child being a carrier.

The child behind the foundation

The Abby Grace Foundation’s cause is to connect and fight for the families who have Sanfilippo syndrome and are searching for a cure and support. The girl behind the foundation is Abby Grace who is a thirteen-year-old who suffers from the disease herself.

Abby’s childhood development went smoothly until kindergarten when, at the age of five, she started lagging behind academically. Her parents initially thought they could put in some extra hours of academic assistance to get her caught up, but they soon realized something more serious was wrong.

After two years of testing and meeting with neurologists and geneticists, it was discovered that Abby had Sanfilippo syndrome.

Sanfilippo syndrome is a condition where a child is born without an important enzyme that helps break down complex carbohydrates in the cells. This can eventually causes a buildup of progressive brain damage. To read more about it, click here.

Essentially Abby was experiencing slow brain damage that will deteriorate her ability to walk, talk, and feed herself. Children with Sanfilippo syndrome eventually lose their hearing, have visual difficulties, and experience seizures. Children regress to a younger stage and need constant and total care.

Children born with Sanfilippo syndrome every year, most do not have initial symptoms at birth, but develop delayed speech and problems with their behavior. They can become anxiety ridden or restless during the first few years of early childhood, and exhibit other behavior problems. People with Sanfilippo syndrome are expected to live to 10-20 years of age, and in the later stages develop movement disorders and seizures.

Abby currently is still able to walk talk and feed herself. She has taken dance classes for nine years, and loves ballet, tap, and hip-hop. She engages in therapeutic horseback riding and does special education classes  at school. She is friendly and loving, and her family and community are praying for a cure.

Five years after her diagnosis, her family still struggles to come to terms with feelings of helplessness in the face of a disorder with no known cure. They work to support research through the Abby Grace foundation, and to make Abby’s life as rich and full of joy and growth as any other child.

The Abby Grace Foundation celebrates and remembers all those who have Sanfilippo syndrome. The foundation focuses on raising awareness and raising research funds for a cure. In 2017, they contributed to Gene Therapy research at Nationwide Children’s Hospital in Columbus Ohio, as well as to Abeona Therapeutics, Inc to expand their Gene Therapy research program. They will co-host their second annual Golf Tournament this coming way with Aislinn’s Wish Foundation, another Sanfilippo family non-profit organization.

Here are 3 easy ways to get involved:
  • Donate via Pay Pal
  • Shop on Amazon Smile which allows you to choose to Abby Grace Foundation as your charity or shop for Abby Grace Foundation merchandise on the sitre.
  • You can even host a fundraiser in honor of Abby Grace
Learn more about the foundation, upcoming events, and how to get involved here.

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