Cure AP-4

Cure AP-4 For a future as bright as their smiles! Most are non-verbal. Because of the extreme rarity of the disease, very little research has been conducted to date.

AP-4-associated Hereditary Spastic Paraplegia is a group of four closely related neurodegenerative disorders caused by autosomal recessive inheritance of mutations in the Adapter Protein-4 genes. Children afflicted with this genetic disorder generally present with symptoms including developmental delay, microcephaly, seizures, malformation of the brain, and hypotonia (low-muscle tone). Those who d

o attain speech

They often learn to walk by the age of two and then lose that ability a few months or years later as they develop hypertonia (high-muscle tone) and muscle spasticity. Patients gradually lose mobility in some or all extremities and are moderately to severely intellectually challenged. The Cure AP-4 non-profit organization was originally founded as Cure SPG47 in 2016 by the parents of the two children affected and expanded to include all AP-4-associated HSPs in 2019. We refuse to accept the bleak prognosis which our children face. We have decided to fight. The purpose of this organization is to study and seek a cure for AP-4-associated HSP.

Meet Ryder! 💙 A sweet, four-year-old boy from Texas who loves being outside, exploring with his sister, playing at the p...
08/19/2026

Meet Ryder! 💙 A sweet, four-year-old boy from Texas who loves being outside, exploring with his sister, playing at the park, and going to school.

He works hard every week through physical therapy, speech therapy, and occupational therapy to help support him through the challenges SPG47 brings.

Ryder is curious, determined, loving, and full of life. We want to give him, and other kids with SPG47, the opportunity to keep living life to the fullest. 🩵

We are continually working to raise the funds needed to support the SPG47 gene therapy clinical trial at Boston Children’s Hospital. This gene therapy could give Ryder and others a chance at a future filled with more possibilities. 🧬✨

We have raised approximately $1.5 million toward the $5 million needed for the clinical trial to begin. We are making progress, but we still have a long way to go.

Every donation and every share brings us one step closer to a treatment. ✨

Visit our website to learn more and donate.

07/29/2026

Let’s talk hippotherapy 💪🏼🐴

Meet Nika! She lives in the Czech Republic with her family who are originally from Ukraine. Like so many kids with SPG47, she faces challenges most of us never even think about. But today she’s doing something she loves: riding a horse. 🐎

💙 This is called hippotherapy, or equine therapy. It’s not just riding; the rhythmic movement of the horse can help with balance… strengthen trunk muscles, improve mobility and coordination, reduce muscle stiffness, and even boost emotional well-being with the joy and confidence it brings. ✨

For children with rare diseases like SPG47, small milestones mean the world. Let’s cheer Nika on as she continues her journey. Every child with SPG47 deserves the chance to thrive. ⭐️

✨ Meet the Board Members- Part 2 ✨We are proud to spotlight the other two incredible members of the Cure AP-4 Board of D...
07/23/2026

✨ Meet the Board Members- Part 2 ✨

We are proud to spotlight the other two incredible members of the Cure AP-4 Board of Directors whose expertise and passion are helping move our mission forward.

🧬 Spotlighting Dr. Catherine Strandt, DMSc

Dr. Catherine Strandt serves as a Project Manager at RareKids-CAN and is a passionate advocate for advancing innovative therapies for rare diseases. Her work focuses on accelerating the development and delivery of advanced therapy medicinal products (ATMPs), including gene and cell therapies, by strengthening clinical trial readiness, fostering national and international collaboration, and building the infrastructure needed to bring transformative treatments to patients.

Driven by a deep commitment to improving the lives of children and families affected by rare diseases, Catherine works to bridge research, clinical care, and implementation—ensuring scientific discoveries become meaningful treatments. We are incredibly grateful to have her expertise and dedication guiding Cure AP-4 as we work toward a brighter future for our community.

💙 Spotlighting Kira (Apse) Dies, ScM, CGC

Kira Dies is a board-certified genetic counselor and serves as the Executive Director of the Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center at Boston Children’s Hospital. For more than 20 years, she has dedicated her career to understanding the genetic causes of neurodevelopmental disorders and translating those discoveries into real therapies for children and families.

Kira has proudly served on the Cure AP-4 Board of Directors since the organization’s founding. Her leadership, scientific expertise, and unwavering commitment to rare disease families continue to shape the future of AP-4 research. Whether leading groundbreaking initiatives at Boston Children’s Hospital or collaborating with the Cure AP-4 community, Kira is driven by one goal: creating better futures for children living with AP-4 associated disorders.

Please join us in thanking Catherine and Kira for their dedication, leadership, and commitment to advancing hope for every family affected by AP-4 related HSP 💙

☀️ Meet Anđelina, one of our SPG47 superheroes☀️Anđelina is a little girl who brings sunshine everywhere she goes. After...
07/14/2026

☀️ Meet Anđelina, one of our SPG47 superheroes☀️

Anđelina is a little girl who brings sunshine everywhere she goes. After months of therapy, hard work, and determination, she took her first independent steps at 2 years and 3 months old- a milestone her family will never forget. 💛

That moment brought so much joy, but for families living with SPG47, every milestone can also come with fear. SPG47 is unpredictable, and families like Anđelina’s live with the uncertainty of wondering how long these precious abilities will last.

Although Anđelina is completely nonverbal, she has her own beautiful ways of communicating. Through her smile, her eyes, and her little hands, she shares her love and personality with everyone around her. She loves laughing, taking baths, playing with other children, and exploring the world on walks with her family. 🌎

At just 8 months old, Anđelina experienced her first febrile seizure- a terrifying moment that continues to worry her family any time she gets sick.

But Anđelina is so much more than her diagnosis. She is full of joy, love, and light. Every child with SPG47 deserves hope for a brighter futures. You can help us do that! 💛

07/10/2026

When you hear directly from a family affected by SPG47, you quickly realize this is about so much more than a sweepstakes.

It’s about children.

It’s about hope.

It’s about funding research that could one day change lives.

Watch Maggie’s story and learn why raising awareness for SPG47 matters so much.

Then enter the Dream Big Sweepstakes for your chance to win a dream vacation.

✨ No donation is required to enter.

Together, we can help families dream of a brighter future.

https://givebutter.com/curespg47-dream-big-sweepstakes?fbclid=IwY2xjawS-FQVleHRuA2FlbQMxMDAAc3J0YwZhcHBfaWQQMjIyMDM5MTc4ODIwMDg5MgABHuxdAYrUcIFLdzt0_hFyBaZYQ4OoGcjP366tB2RreRBTTN4av1qtSgwOBZOz_aem_Yt34TsY9_gXoGcDHD_W2fA

Every child deserves the chance to dream big. 💜Meet some of the incredible children living with SPG47, a rare genetic co...
07/10/2026

Every child deserves the chance to dream big. 💜
Meet some of the incredible children living with SPG47, a rare genetic condition that affects movement, communication, and independence.

Behind every smile is a family hoping for better treatments, greater awareness, and one day, a cure.

By entering the Cure SPG47 Dream Big Sweepstakes, you’re helping us spread awareness while getting the chance to win a dream vacation.

✨ No donation is required to enter.

✨ Every entry helps us reach more people and bring hope to families affected by SPG47.

✨ Enter today and help us make a difference.

https://givebutter.com/curespg47-dream-big-sweepstakes?fbclid=IwY2xjawS-FQVleHRuA2FlbQMxMDAAc3J0YwZhcHBfaWQQMjIyMDM5MTc4ODIwMDg5MgABHuxdAYrUcIFLdzt0_hFyBaZYQ4OoGcjP366tB2RreRBTTN4av1qtSgwOBZOz_aem_Yt34TsY9_gXoGcDHD_W2fA

💙 Meet the Board of Cure AP-4 💙As our Cure AP-4 community continues to grow, we’d like to reintroduce the incredible peo...
07/01/2026

💙 Meet the Board of Cure AP-4 💙

As our Cure AP-4 community continues to grow, we’d like to reintroduce the incredible people behind our mission: our Board of Directors. We’re starting with the two dads whose determination helped make this organization a reality.

Chris Edwards and Kevin Duffy co-founded Cure SPG47 (now Cure AP-4) with their families after their daughters, Robbie and Molly, became the first two children diagnosed with SPG47 in the United States. Their vision laid the foundation for the research, collaborations, and hope that continue to move our community forward.

🔹 Chris Edwards
Chris grew up in New Hampshire, spent 30 years in Massachusetts, and recently returned to New Hampshire. A Bucknell graduate and avid world traveler, Chris has been an entrepreneur from a young age, building businesses in web development, web hosting, real estate, and the cannabis industry. He is also the co-founder of BlackfinBio, helping advance gene therapy for rare diseases.

Outside of work, Chris enjoys lake life with his children- boating, hiking, scuba diving, listening to music, and pushing Robbie on her swing.

🔹 Kevin Duffy
Kevin’s journey began when his daughter, Molly, was diagnosed with SPG47. Five years later, his son, Owen, received the same diagnosis, strengthening his family’s commitment to accelerating research and treatment development.

When he’s not advocating for the SPG47 community, Kevin serves as Director of Golf at Commonwealth National Golf Club. Despite being a PGA Golf Professional, he rarely has time to play! Instead, he enjoys creating unforgettable adventures for Molly and Owen, whether it’s swimming, golf cart rides, or making everyday moments special. His greatest joy is giving his children every opportunity to experience life to the fullest.

🔹We are grateful for Chris and Kevin’s leadership, vision, and dedication to every family affected by SPG47 and other AP-4 related Hereditary Spastic Paraplegias. Because of them, our community is stronger, our research is advancing, and hope continues to grow.

Please join us in thanking Chris and Kevin for everything they do! 💙

The "Golf for a Cure" SPG47 Silent Auction is LIVE and filled with incredible items, including:🖼️ Framed artwork🏈 Sports...
06/23/2026

The "Golf for a Cure" SPG47 Silent Auction is LIVE and filled with incredible items, including:
🖼️ Framed artwork
🏈 Sports game tickets
🎸 A Taylor Swift signed guitar
✈️ Trips to Napa Valley, Belize, Costa Rica, Italy, & Scotland
…and much more.

Behind this auction is a family whose determination has inspired an entire community.

In 2013, Angela and Kevin Duffy's daughter Molly became the first identified case of SPG47 in the United States. Faced with a diagnosis that few had ever heard of and limited research options, they chose to turn uncertainty into action. Then, in 2021, their son Owen was also diagnosed with SPG47.

For the past 10 years, Angela and Kevin have poured their hearts into raising awareness, fundraising, and building hope for families affected by this devastating rare disease. This year marks the 10th anniversary of the golf outing they founded in support of SPG47 research and treatment development.

Their dedication over the years has helped raise almost $2 million for research, bringing us closer to treatments and, ultimately, a cure.

Today, you can be part of that story!

Browse the auction, bid on an item you love, and help us honor a decade of impact by supporting the Duffy family's mission to create a brighter future for children living with SPG47.

⏰ The auction closes tomorrow at 6:30 PM EDT.

🔗https://www.32auctions.com/2026Curespg47

Please bid, share, and help spread the word. Together, we can continue turning hope into progress. 💙

🎁 It's never too early to get some holiday shopping done! 🩵 Shop Kendra Scott online NOW through June 25th and use the c...
06/20/2026

🎁 It's never too early to get some holiday shopping done! 🩵 Shop Kendra Scott online NOW through June 25th and use the code GIVEBACK-MCBNG to support Cure SPG47 and the sweet kids we are fighting for! 🌟

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