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Sadie Rae has a fatal type of childhood dementia called Sanfilippo Syndrome.

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About Sanfilippo SYndrome

Sanfilippo Syndrome (also known as MPS III) is a progressive and fatal disease affecting 1 in 70,000 children. It is a genetic condition that affects the metabolism and results 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. The life expectancy of diagnosed children is 10-20 years.

Learn more at the Cure Sanfilippo Foundation

"We cheer on our children for every little milestone, every gain. How does a parent respond when it's going in the other direction?" 

- Cara O'Neill (mother of Eliza O'Neill)


Symptoms

  • Speech delay

  • Recurrent ear/sinus infections

  • Large head size

  • Diarrhea/chronic loose stool

  • Poor sleep

  • Speech/developmental delays

  • "Autistic" behaviors

  • Hyperactivity

LATER FEATURES

  • Progressive intellectual disability

  • Seizures

  • Enlarged liver/spleen

  • Hearing loss (may occur earlier)

  • Loss of mobility

  • Loss of ability to eat by mouth

Meet Sadie

Sadie was born in March 2016 following a normal and healthy pregnancy. Due to an unanticipated breathing issue hours after her birth she needed to be airlifted to Levine Children's Hospital in Charlotte. She was put on a ventilator and was diagnosed with respiratory distress syndrome. Possibly as a result of the ventilator, Sadie developed a grade III intraventricular hemorrhage.

Sadie spent the first 72 days of her life in the hospital for numerous tests and underwent several surgeries including having a brain shunt placed. When Sadie finally got to go home all of her issues faded away and she was just our sweet, healthy, and smiley Sadie. However, several weeks later we got the devastating call that would forever change our lives.

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Sadie’s doctor informed us that Sadie had tested positive for the very rare genetic disorder, Sanfilippo Syndrome, a neurodegenerative disease with no cure and ultimately results in death by a child’s teenage years.

While this was a devastating blow to our family we knew there was no time to waste. We immediately mobilized a dedicated community made up of family, friends, and supporters and got to work finding other families who had children with Sanfilippo Syndrome and connecting with foundations who had already begun the fight to find a cure.

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Current

status

There are no approved treatments for Sanfilippo Syndrome.

Sadie was in a clinical trial from 2019-2021, but unfortunately has been off any form of treatment since then. We hold out hope that she will get access to another clinical trial treatment before Sanfilippo has progressed too far.

 

Media Coverage

Awareness leads to action, action creates miracles.

Metro - January 2024
SBSK Interview - January 2023
ABC News - December 2022
Newsweek - October 2022
Tyla - June 2022
BabyGaga Article - January 2020
Love What Matters Article - November 2019
Charlotte Observer Article - March 2018
Courier Tribune Article - March 2018
Molly's Kids Article - March 2017
Montgomery Herald Article - October 2016
People.com Article - September 2016
 

Contact Us

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