Sadie & Fam

It’s amazing how a short video can transport you to a different time. This was filmed three years ago when Sadie was five years old. She was still in a clinical trial, getting infusions of the enzyme she’s missing. And Sadie was doing so well. She was smart, silly, and sassy. She was engaged and understood a lot. Since the trial ended, we’ve had to watch Sanfilippo Syndrome steal so much from our baby. It’s harder to engage Sadie. She’s lost most of her speech. We now feed Sadie to ensure she doesn’t choke on food. There are treatments proven to work for Sanfilippo. But we need the FDA to use the accelerated approval pathway NOW to ensure more children don’t lose their skills, and eventually their lives. Sadie, we have seen your life, and it matters. It is making a difference for many other children with Sanfilippo. I’m sorry we couldn’t fix the system fast enough to stop Sanfilippo from stealing many abilities from you. You deserve so much better. #sanfilipposyndrome #curesanfilippo #childhooddementia #foodanddrugadministration #fda #savingsadierae #CapCut

Sanfilippo kids get sick frequently. Pneumonia is what ultimately causes most children with the condition to pass in their teenage years. As Sadie has gotten older, it has become more challenging for her to break up mucus. She occasionally chokes on the mucus, which is dangerous and causes her distress. We will do anything to help our girl, so we advocated for an Airway Clearance Vest. These devices are primarily used for Cystic Fibrosis so it took a while for insurance to approve it for Sanfilippo. Sadie has to use the device twice daily for 20 minutes, even when she’s not sick, for approval (a rule clearly designed for CF). Sadie hasn’t had a cold since we got the vest, but we’re hopeful it will help the next time she does. And luckily, she doesn’t seem to mind wearing it. More information from the Cystic Fibrosis Foundation: “The machine is made up of two pieces, an air-pulse generator and an inflatable vest that is connected to the generator by hoses. The generator sends air through the hoses, which causes the vest to inflate and deflate rapidly, as much as 20 times per second. This rapid inflation and deflation creates pressure on the chest similar to clapping. The vibrations not only separate mucus from the airway walls, they also help move it up into the large airways. Typically, a person uses the vest for five minutes and then coughs or huff coughs to clear the mucus. Sessions last about 20 to 30 minutes.” #sanfilipposyndrome #cysticfibrosis #thevest #CapCut #savingsadierae

Sadie still gets an A+ for creativity #sanfilipposyndrome #abcs #dementia #CapCut

Sweet memories. Daddy getting home from work has always been one of Sadie’s favorite times. She can no longer verbalize her excitement but her face sure shows it. #onthisday #sanfilipposyndrome #childhooddementia #daddysgirl

Ice cream and Sadie giggles make the world go ‘round! It’s clear Sadie still loves ice cream!🍦 🤭

Happy birthday to Sadie’s favorite shopping partner! Sadie has a rough way of showing it 👁️ 👂, but she sure loves you! 🛒 🍦 🍪 💃 🕺 #sanfilipposyndrome #foodlion #groceryshopping #shoppingwithkids #grandfather #grandparentsoftiktok #grandpa #savingsadierae

Even the kitties love Sadie’s rough love. #sanfilipposyndrome #childhooddementia #animallover #CapCut

Reminder that it’s the little things that are really the big things. I didn’t know Jessica could be said so many different ways. The last way is how she pronounced my name as a bebe 🥹 #sanfilipposyndrome #childhooddementia #jessica #niece #auntiesoftiktok #CapCut

Kaleidoscope Sadie is my favorite! #museumofillusions #sanfilipposyndrome #illusionsmichael #CapCut #kaleidoscope #savingsadierae

Sadie hopes you all find a little time to dance this weekend! 💃 #sanfilipposyndrome #dance #savingsadierae

Sadie lady still knows what she likes! #sanfilipposyndrome #childhooddementia #buddytheelf #elfthemovie #elf #CapCut #willferrell

This was not one of our better ideas. Even though Sadie normally loves to throw things, she was confused that she actually had permission to at the rage room. Also, she didn’t love the safety gear. Auntie and Sadie left the room after five minutes and let Mama get all her Sanfilippo rage out. Oh, and if you’re new here, Sadie can’t read, so she had no idea what the wall said. #sanfilipposyndrome #rageroom #breakstuff #rage #savingsadierae

Sadie is out of school for spring break, so she’s getting lots of ABA therapy. Ericka and Jenn bravely decided to make brownies with Sadie. This resulted in multiple changes of clothes and thin brownies because Sadie spilled most of the batter. But she thought it was hilarious and had so much fun! They also made cupcakes from kinetic sand and peep doh. 👏 to all the therapists like Sadie’s who go above and beyond to make therapy engaging! 👩‍🍳 #abatherapy #aba #sanfilipposyndrome #therapy #bakingwithkids

Happy Easter from Sadie Lady! 🐣 🐰

Happy birthday to Aunt Jessica! Almost eight years ago when we learned about Sadie’s Sanfilippo diagnosis Jessica quickly recognized the importance of channeling our sadness into something productive. Thanks to her efforts, Sadie’s journey with Sanfilippo Syndrome has reached millions of people. In addition to the daily managing of Saving Sadie Rae’s multiple social media platforms, she also serves on the board of Cure Sanfilippo Foundation tackling projects like clinical trial data sharing, as well as advocating behind the scenes by attending conferences and connecting with doctors, biotechs and pharmaceutical companies. Her thorough and steadfast advocacy has given mom and dad much needed space and time to focus our attention on Sadie’s daily care, especially as her care needs increase. We are so lucky to have our wonderful Auntie “Jessita” in our lives. Happy birthday! #auntie #auntielife #advocate

Spring means it’s almost time for therapeutic horse riding lessons again! This is a video from October that we forgot to share. Sadie has been taking lessons since she was three years old. Therapeutic riding has many benefits including: improved muscle tone and strength, balance, posture, coordination, flexibility and motor development. There are also benefits to emotional well-being like decreased anxiety and increased confidence. Can’t wait to see all our friends and horses at Kids Rein soon! 🐎 💜 #capcut #therapyhorse #horsebackriding #sanfilipposyndrome #horselover

Replying to @Dosh2 How Sadie sings “You Are My Sunshine” now and this is a good day #sanfilipposyndrome #curesanfilippo #youaremysunshine #savingsadierae

Every little girl needs a Poppy! She stayed in the ball pit for a long time so I think she’s a fan. Don’t even get us started on Sadie’s outfit tho 😅 #sanfilipposyndrome #grandpa #grandfather #ballpit #savingsadierae

Sadie’s story was shared with the FDA during a critical meeting between regulators, advocacy groups, and pharmaceutical companies about getting treatments to children faster. Now, we want Congress to hear Sadie’s story to help us in our efforts with the FDA. Please send this to your Senators and Representatives. When Sadie was first diagnosed nearly eight years ago, we hoped her Sanfilippo story might be different. There were promising treatments in development. Now, many of those programs have been abandoned or halted, primarily due to a lack of regulatory flexibility. We hope this recent workshop with the FDA was a pivotal step to changing the Sanfilippo story for children in the future. "We are asking the FDA for equitable access to the Accelerated Approval pathway ... We truly need access now in Sanfilippo syndrome, or we are going to lose another generation of our children." - Cara O’Neill, MD, Chief Science Officer of Cure Sanfilippo Foundation (@curesanfilippo) The meeting hosted by the Reagan Udall Foundation presented a compelling case for heparan sulfate as a biomarker for accelerated approval in Sanfilippo and other MPS conditions that impact the brain. Thank you to Mark Dant of The Ryan Foundation (and MPS I dad) for sharing Sadie’s story and giving a voice to all patients with MPS. To learn more about the workshop or watch the recording, visit: https://reaganudall.org/news-and-events/events/qualifying-biomarkers-support-rare-disease-regulatory-pathways #curesanfilippo #curemps #sanfilipposyndrome #fda #acceleratedapproval

Filling this page with Sadie’s voice because one day this is all we’ll have. Memory is an interesting thing. Some days Sadie remembers entires stories like this. Other days, she barely remembers a few words. We’re grateful for every single word. #sanfilipposyndrome #childhooddementia #bedtimestory #goodnight #savingsadierae