Family fighting for cure to rare disease — Sanfilippo Syndrome

MOUNT GILEAD — Sadie Rae Haywood is just like any other five-year-old girl. She loves to sing songs, explore, go to the beach with her family, and visit Disneyworld.

But Sadie has Sanfilippo Syndrome, also known as MPS III and “childhood Alzheimers.” It is a rare genetic disorder affecting metabolism and resulting in severe damage to the Central Nervous System.

“Individuals affected by Sanfilippo lack an enzyme necessary to break down long chains of sugar molecules. As these molecules accumulate in the cells, they start causing cellular dysfunctions, particularly in the brain, causing affected children to lose memory and forget how to walk, talk, and feed themselves,” reads the Cure Sanfilippo Foundation website.

Symptoms can include speech and developmental delay, large head size, hyperactivity, recurrent sinus infections, and poor sleep. Symptoms that show up later can include progressive intellectual disability, seizures, enlarged liver or spleen, hearing loss, and the loss of mobility and ability to feed oneself. Sanfilippo is a neurodegenerative disease with no cure, showing degeneration in children by the time they are three and ultimately resulting in their deaths by the time they are teenagers.

Sadie was born in March 2016 after a normal pregnancy. Due to breathing issues, she was airlifted to Levine Children’s Hospital in Charlotte where she was put under a ventilator and diagnosed with respiratory distress syndrome. During this time, she developed a grade III intraventricular hemorrhage. She spent her first 72 days in the hospital going through tests and surgeries before being able to return home. A few weeks later, the Haywoods received the call that Sadie had Sanfilippo Syndrome.

“Our dreams have changed. Before Sadie was born, we dreamed of her playing sports, helping her get ready for prom, going to college, and her dad walking her down the aisle. Today, we dream she lives past the age of 14. That she learns to ride a bike and that she doesn’t suffer too much. We try to make Sadie’s life as normal as possible and get in as many experiences as we can while she’s still healthy. She recently started preschool and absolutely loves it! We never talk about Sanfilippo Syndrome in front of her because we don’t want her to think she is different than other children. Sadie’s future terrifies us – especially not knowing how long she will be with us,” said Ashley Haywood, Sadie’s mother, on Love What Matters in 2019.

Soon after they received that call, they joined the tireless fight to fund for a cure, connecting with foundations and mobilizing a community around Sanfilippo Syndrome called Saving Sadie Rae. Saving Sadie Rae funds for clinical trials and research, provides hope for others affected like them, and enables more treatment options and advocacy.

Sadie recently completed a clinical trial of weekly enzyme replacement therapy infusions, which while its efficacy is unknown, the infusions are supposed to be beneficial in helping to slow regression. Since the enzyme therapy must be done regularly and her trial is complete, the Haywoods are actively searching for another option at this time.

“Whatever happens, we take comfort in knowing that Sadie will make a difference. She already has. Even if the cure doesn’t happen for her, it will for others because of the action she has inspired in all of us. It’s crazy that our greatest tragedy is also our greatest blessing,” Haywood said. “Sadie has already taught us so much about life, love, and acceptance. She’s taught us to enjoy each moment because we don’t know what the future will hold. We feel so lucky to be her parents.

“We try not to get hung up on the little things and focus on the bigger picture – which is a cure. All of Sadie’s supporters give us hope. The research that we are helping fund gives us hope. Our faith gives us hope. Each time Sadie is able to still say ‘I love you, Mommy’ that gives us hope and keeps us motivated to keep pushing for a cure so we can always hear those sweet words.”

To support them and see updates on Sadie’s progress, follow the Haywoods at “Saving Sadie Rae” on Instagram, Facebook, and TikTok. They also have Saving Sadie Rae gear on their website http://www.savingsadierae.org/. Donations can be given through their PayPal linked on their website and sent by check to 603 West Allenton Street Mount Gilead, NC 27306.