Sadie’s Story

Meet Sadie

Our daughter Sadie is a very happy girl who lights up a room with her beautiful smile and her eyes full of joy. She loves to meet people and be the center of attention among family and friends. And like other kids, she loves singing and dancing. Our daughter is now 6 years old, a first grader, and has been going through a lot of unexpected medical challenges in her short life. Our family’s journey with Sadie has been filled with faith and hope for a cure.

Complications after birth

Sadie was born on March 8, 2016 with respiratory distress syndrome (RDS). She was airlifted to a neonatal intensive care unit (NICU) at a children’s hospital, leaving us without the chance to hold or bond with our baby. Doctors put her on a ventilator to help her. It took us a week to hold our precious baby girl.

However, due to mechanical ventilation, our daughter developed an intraventricular hemorrhage (IVH) Grade 3. She underwent brain surgery just weeks after being born. We were devastated and couldn’t understand why she was having these complications. Sadie’s elevated heart rate concerned doctors; she was not eating well, and a feeding tube was surgically implanted to make sure her body was getting all nutrients she needed.

When Sadie was ready to come home, an MRI revealed that her brain ventricles were enlarged, resulting in a third surgery to get a shunt implanted. After spending her first 73 days in a NICU where she underwent numerous tests and surgeries, she was finally released from the hospital. We went home with our miracle baby.

A rare disease was already present in our family tree

My husband’s cousin was born with a rare disease named Sanfilippo Syndrome, also known as MPS III. Others called it “Childhood’s Alzheimer or Dementia.” It is a rare disorder that primarily affects the brain and spinal cord. One sign of this hereditary disorder is respiratory issues in infants. My intuition told me that Sadie needed to be tested for this disease, and I requested the test while she was in the hospital.

Sadie was only three months old when we received a call from her doctor. He informed us that our daughter tested positive for Sanfilippo type A. We were shocked and devastated, at the same time, grateful for having an answer to her health issues at an early age. For others, it usually takes years to get the diagnosis because it goes unnoticed without newborn screening. This neurodegenerative disorder affects 1 in 70,000 kids.

A fight “against the clock” to save our daughter

After her diagnosis, we received emotional support from our immediate family, friends, and members of our church congregation. We found out that organizations like the Cure Sanfilippo Foundation and the MPS Society are great resources for newly diagnosed families. We are grateful for their hard work in connecting and supporting families and their constant fight to find cures. We have teamed up with the Cure Sanfilippo Foundation in a series of fundraising efforts to help find a cure and send more patients to clinical trials.

We have set up a Facebook page, a personal website, and a webpage to collect donations. Awareness leads to action, and action brings hope to others. We have found a strong community of Sanfilippo families on Facebook. It is a rare disease, and you can learn so much from other people sharing the same journey. My advice for other parents is that “you have to be your child’s best advocate.” Gaining access to services such as physical therapy, occupational therapy, and speech therapy is key to helping your child.

Hope for a Cure

Sadie was given the opportunity to participate in a clinical trial. However, the trial ended after two years. We are grateful for that time and hope for a future treatment to alleviate the devastating symptoms of Sanfilippo Syndrome. Like any other parent, our wish is to save our child and give her the opportunity to live life to the fullest.

Written by Ashley Haywood, Sadie’s mother