Our daughter, Sadie Rae Haywood, was diagnosed with a fatal genetic disease called Sanfilippo Syndrome.
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.
"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.
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.
Enzyme Replacement Therapy
Thanks to your efforts to raise awareness and funding, in April 2019 Sadie began a clinical trial where she is receiving weekly enzyme replacement therapy infusions.
While we don’t yet know the efficacy of the drug, we believe it has been beneficial to Sadie as she continues to thrive. Many children with Sanfilippo Syndrome show signs of regression by Sadie’s age. We are incredibly grateful for this opportunity.
Unfortunately, the trial ends in May 2021 and she will be unable to continue receiving the drug afterwards. For enzyme replacement therapy to be effective it must be administered regularly. We are actively searching for other options for Sadie.
Media Coverage
Awareness leads to action, action creates miracles.
Donate & Shop
Currently there is no cure for Sanfilippo Syndrome so children with Sanfilippo are dependent on clinical trials. We continue to advocate, raise awareness, and seek donations so that other kids like Sadie have a chance at life. There are many kids with Sanfilippo Syndrome but not enough treatment options for all of them. The Cure Sanfilippo Foundation has made great strides in funding research and clinical trials and giving families like ours hope that a cure or treatment will be possible in our lifetimes. Your contribution to Saving Sadie Rae will make an impact. Action leads to HOPE.
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Donations can also be mailed by check to:
PO Box 213
New London, NC 28127