“In 2018, our family welcomed our youngest daughter, Raelin, into the world. From the moment she was born, we were completely in love. She lit up our lives with her spunky personality andbeautiful red hair. Despite some early developmental concerns, Raelin seemed to be progressing well as an infant. However, as she grew into toddlerhood, we began noticing increasing developmental delays. We also discovered that she was losing her hearing.
What initially seemed like a slightly delayed speech soon began to regress rapidly. Doctors and specialists were unable to provide a clear explanation for her symptoms. Eventually, she was diagnosed with autism, but to us, it felt like an incomplete answer. She underwent a chromosomal microarray genetic test, which came back normal. As newcomers to the world of genetic testing, we didn’t realize that this particular test wouldn’t screen for MPS III.
Finally, a neurologist at Phoenix Children’s Hospital ordered a full genetic sequencing test. At age six, we received the devastating diagnosis: Raelin had MPS III, also known as Sanfilippo Syndrome.
Through this journey, we have learned to cherish the invaluable gifts of hope and time. Hope for a cure. Hope for a treatment. Time together as a family. Time with Raelin. While this disease is fatal, and we watch as she loses a little more of her abilities each day, we are deeply grateful for her. She is a precious gift, bringing immeasurable joy to our family. Everyday with her is a blessing.
We are truly grateful for the support we have received from MPS Society and Cure Sanfilippo, whose dedication to research, advocacy, and community is truly impacting our family. We are also truly grateful for Raelin’s medical team, compassionate ABA therapists, caring school team, church, and amazing friends and family. Through this journey, we have also met other truly incredible MPS Families. It is community that helps give us the courage to face each day and reminds us that we are not alone in this journey.”
