 We recently sat down (again) with Jill Wood, founder and CEO of Phoenix Nest — and mom to Jonah, who lives with Sanfilippo Type C. Jill’s message to our community was simple but urgent: we need data, and we need it now. Phoenix Nest has launched a short caregiver survey designed to capture what only families can describe — the real, everyday challenges of living with Sanfilippo. This information could directly influence how clinical trials are designed, how treatments are approved, and ultimately, how quickly we move toward a cure. Understanding What This Means for Our Community Phoenix Nest has created a 20-minute caregiver survey for all Sanfilippo types (A, B, C, and D). It focuses on behaviors, speech, and communication — the small details that define our children’s days but rarely make it into medical charts. The responses will form the foundation of a Clinical Outcome Assessment — a key requirement for FDA approval of any new treatment. Without it, therapies stall before they ever reach the starting line. “We need to educate the FDA about what this disease really looks like,” Jill said. “Families are the experts — your words matter.” That’s why this effort is so critical. The survey will inform natural history studies that track how Sanfilippo progresses over time, helping scientists and clinicians understand how to measure change — and how to recognize when a treatment is working. Your Voice Is the Missing Data This survey isn’t written for scientists — it’s written for us. Parents. Siblings. Therapists. Anyone who knows these kids best. You don’t need medical terms. You just need honesty. If your child runs into the street without fear, describe that. If they repeat the same phrases every day, share that. If they’ve stopped speaking or walking, note that. These details are what make this data real. “Every description — every detail — becomes part of the blueprint for future treatment,” Jill said. “We can’t build a cure without it.” We Need This Data — Lives Depend On It This isn’t another research form to fill out and forget. This is how we make sure the world hears what Sanfilippo really is. At The Sanfilippo Project, our mission is to unite families and amplify their voices — to make sure that the lived reality of our children is never lost in translation. Now, we have a chance to directly accelerate research by doing what we already do every day: describing our kids. Take 20 minutes. Share your story. Encourage others to do the same. 👉 Click to take the survey: Sanfilippo Caregiver Survey The faster we act, the sooner real treatments can reach our children. Let’s make our data impossible to ignore. HOW TO FILL OUT THE SANFILIPPO SURVEY (3 minutes)... Every description - every detail - becomes part of the blueprint for future treatment. We can't build a cure without it. " FULL INTERVIEW (17 minutes).... We need to educate the FDA about what this disease really looks like. Families and caregivers are the experts - your words matter " 
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Two Make-A-Wish trips. Two Sanfilippo kids. One unforgettable connection for two families.  When your child has Sanfilippo syndrome, it can feel like the world was built for other families. But when two families—the Doucettes from Canada and the Stoops from Wisconsin —ended up at Give Kids The World Village during separate Make-A-Wish trips in February 2024, they discovered something rare: a moment of joy that only another Sanfilippo family can understand. The Families Steph (McCabe) Doucette traveled from Saskatchewan with her husband Andre, daughter Sophie (7), and son Emmett (5), who was diagnosed with Sanfilippo Type A in October 2023. Just four months later, they were in Florida thanks to a compassionate palliative care doctor who helped expedite their wish. Erin Stoop, her husband Tyler, and their two children—Liv (5, diagnosed in 2022) and younger brother Liam—had also planned a Make-A-Wish trip to Florida, timed so Liam would be old enough to remember it, and Liv would still be able to travel comfortably. The two moms first connected online in a Sanfilippo moms' group chat. When they realized their wish dates overlapped, they planned to meet. The moment they saw each other in person at the Village, they hugged like old friends. "It felt like family right away," Erin said. The Village Experience At Give Kids The World, the families explored together, shared meals, and let their kids simply be kids. Liv and Emmett may not speak much, but their joy was obvious. And Sophie and Liam quickly bonded as fellow super siblings. "She kind of took him in," Erin said. "They just linked up." Steph recalled the calm of the Village compared to the chaos of theme parks: "It felt like home. No one judged. Everyone was smiling." The Little Moments Emmett lit up meeting Spider-Man. Liv was serenaded by a live band at Magic Kingdom. The characters didn’t need to be familiar to be magical. "It didn’t matter if she knew who they were," Erin said. "She was captivated." Both families agreed that some of the best memories weren’t in the parks, but at the Village itself. "Don’t treat it as just a place to sleep," Erin said. "It’s where the real magic happens." Practical Tips for Future Families For families considering a Make-A-Wish trip to Disney World, both moms had some helpful insights:
Looking Ahead The moms hope other families might have similar opportunities to connect during their own trips. Even a few hours with someone who gets it can make a world of difference. "Meeting another Sanfilippo family made everything more meaningful," Steph said. "It was just... special." CLIP #1 (2 minutes long) -- Wisconsin mom Erin Stoop's daughter Liv was diagnosed with Sanfilippo Syndrome. Shortly thereafter, the family was offered a Make A Wish trip and chose Disney World. Here she tells how that trip came together. The month of February can be quite cold in Wisconsin, so that ended up being a great time of year for our family to escape away to Disney World" CLIP #2 (2 minutes long) -- Saskatchewan (Canada) mom Steph (McCabe) Doucette shares her family's Make-A-Wish trip journey after her son Emmett was diagnosed with Sanfilippo Syndrome. Our palliative care doctor at the time told us about this magical place called Give Kids The World Village at Disney, and we decided that this would be a perfect trip destination for our family " CLIP #3 (1 minute long) -- Erin was worried that her daughter Liv wouldn't know enough Disney characters or stories to enjoy the Make A Wish trip to Disney. But when she arrived, she realized it was the unexpected magic moments that were the most precious and memorable for her family. It was important for me to let go of any expectations I had going into the Disney trip, and instead being open to the magic that was completely unexpected while we were there " CLIP #4 (1 minute long) -- Steph's family stayed at Give Kids The World Village during their Make-A-Wish trip to Disney World. The Village experience, she says, was even more magical than the Disney World parks themselves. Try to spend at least one full day at Give Kids The World. It’s magical on its own - even more so than the Disney theme parks themselves " CLIP #5 (1 minute long) -- When the Stoops and Doucettes finally met - in person - for the very first time at Disney during their Wish trips, the bond between the families was instantaneous and powerful. It just felt like family right away "  The Stoop family (from Wisconsin)  Sanfilippo warrior Liv Stoop (5 years old)  The Doucette family (from Saskatchewan, Canada)  Canadian Sanfilippo warrior Emmett Doucette (5 years old)  When Emmett asked Liv to share the dance floor with him at Disney (February 2024)  Super-siblings Sophie Doucette and Liam Stoop bonded big time during the trip.  Carl Kapes - current chair of the National MPS Society's Annual Fund - has turned his personal tragedy and trauma (his two sons' devastating Sanfilippo Syndrome diagnoses) into a mission of hope and impact. And he's done it by leveraging his leadership experience, athletic abilities (Carl's a former Villanova baseball player) and determination to do everything in his power to save his two sons' lives. And that includes scaling a few of the world's tallest mountains (despite zero prior mountain climbing experience) and, in the process, raising much needed awareness and funding for the fight against Sanfilippo Syndrome. “As a parent in this situation, you have a choice—you can cry about it or pick yourself up", said Carl. "And if we can’t save our children, we can still help others down the road.” Back in 2012, Delaware dad Carl Kapes embarked on a remarkable journey to raise awareness and funds for Sanfilippo syndrome, a rare and devastating neurodegenerative disorder. Motivated by his two sons, Ryan (Sanfilippo type A, forever 16) and Brayden (Sanfilippo type A), Carl climbed Mount Kilimanjaro, the highest peak in Africa. Other treacherous mountain climbs would follow. “At the time, I thought to myself, 'if I could actually do this, I bet I could get a lot of people to support the cause'. And it worked.” As a former Villanova baseball player, and an engineer by profession, Carl applied his unique skillset and determination to this cause. His Kilimanjaro climb, documented in partnership with The Preston and Steve Show from WMMR radio station in Philadelphia, captured hearts and raised over a million dollars for Team Sanfilippo Foundation. He and his team created a few documentaries about their journey, as fundraising vehicles to bring in the money they so desperately needed. Two such films are The Weight of A Mountain, a short film documenting the efforts of parents whose children have Sanfilippo Syndrome, and their journey to the ends of the earth in an effort to create hope where none existed; as well as At The Edge of Hope (check them both out, you will be inspired). These efforts not only helped Carl and his team fund critical research but also brought much-needed visibility to this rare disease (this was before social media became the phenomenon that it is today). Today, Carl continues to channel his passion as a board member of the National MPS Society, where he chairs the Annual Fund. This fund is a cornerstone for supporting families and advancing research. "The National MPS Society is about more than just finding treatments and cures", Carl explained. "It’s also about supporting families and caregivers in their MPS journeys". Carl's courageous and unwavering commitment over the past decade plus has helped to inspire other rare-disease dads (like myself) in similar shoes to keep fighting - not just for our own child(ren), but for all children impacted by this disease. "We're a family", says Carl, "Yeah, it's a family that none of us ever wanted to be part of, but it's a family that you want to have in your corner along this journey". Carl’s journey from mountain peaks to boardrooms shows that every effort, no matter how it begins, can have a profound impact. But it all started with finding the courage to take that first step up the proverbial (and literal) mountain for his boys. "Everybody is good at something", Carl insists, "and we can all contribute in our own unique ways. It takes an army". (QUICK) CLIP #1 -- CARL ON HOW HE DECIDED TO CLIMB MOUNT KILIMANJARO FOR A CURE Abeona needed the money. So we got together with other foundations to pool our money together and make it happen. And that's when I decided to climb Mount Kilimanjaro. " CLIP #2 -- CARL ASKS PHILADELPHIA-BASED RADIO STATION WMMR TO JOIN HIM Growing up in the Philadelphia area, I have been a fan of WMMR my whole life. And so I thought it would be really cool if they would be willing to come along with me on the Kilimangaro climb. Teaming up with WMMR helped us tremendously with getting the word out and raising awareness about Sanfilippo Syndrome" WATCH THE FULL INTERVIEW HERE: “As a parent in this situation, you have a choice—you can cry about it or pick yourself up", said Carl. "And if we can’t save our children, then at least we will be helping others down the road.”    Tara Shuman's cancer-survivor journey began with a devastating triple-positive diagnosis 12 years ago. She fought and survived, and to this day she continues to fight and advocate for the breast cancer community. Now she's on a mission to teach and mentor others to find the courage and fortitude - and a let's-figure-it-out approach to learning - not only how to solve problems and bounce back from trauma - but to bounce back to even greater heights on the way back up. Fueled by a deep sense of gratitude, purpose and 'survivor's guilt' following her own harrowing fight against a rare type of breast cancer over a decade ago, Tara Shuman became a fierce and determined advocate and teacher for other people out there who find themselves along a challenging and lonely journey of their own. She even wrote a beautiful book about it which chronicles her cancer journey, called "Hope is a Good Breakfast". At her very core, Tara is a teacher by nature. In fact, it's the reason she left a cushy, high-paying job at a law firm (following law school) to pursue a career - an unquenchable passion, really - that would allow her to teach others to tackle similar life journeys and circumstances with a mindset of positivity, teamwork, critical thinking and teamwork. And Tara has an unwavering faith in human beings' ability to not only "bounce back" from trauma, but to bounce back even stronger and more resilient than where they were before. Tara grew up in Canton, Massachusetts (my hometown) - that's how we reconnected - and, come to find out, she and I actually shared many similar interests and activities while growing up in the town - including math team (don't laugh), team sports, study halls, etc. One could say that we "learned how to learn" the same way, and from the same education system and teachers. We chatted back in early June 2024 - video clips from our conversation are included below. I think you'll find it interesting and inspiring, just like I did. Lastly, the Sanfilippo Project is honored and grateful to Tara for not only her time and telling her story, but also for her eager willingness to lean into this project with us (per my request) to help drive greater understanding and knowledge about not only the Sanfilippo life but also "rare" journeys in general. We all have so much to learn from one another. To hear more from Tara, check out this Ted Talks speech that she delivered last year. It's a powerful message that will resonate with every viewer in one way or another. Tara Shuman is a teacher, business owner, and former attorney. She loves teaching a wide variety of subjects, and is most passionate about helping students of all ages and backgrounds improve their reading, writing, and speaking skills. Tara believes that strong communication is the foundation of all positive personal, professional, and community relationships. Tara’s 12 years of full-time teaching experience, as well as her 7 years of experience practicing health care and immigration law have taught her valuable methods for simplifying complex information and effectively sharing it. She spends her days creating, writing, and teaching at the learning centers she owns and operates south of Boston. As a cancer survivor, Tara is passionate about supporting those navigating a cancer diagnosis and she continues to dedicate her time to raising money for cancer research. She has shared her story with many large audiences and enjoys teaching others how to hone their public-speaking skills. She lives in Canton with her husband, two kids, and their dog, Hope. See below for video segments from our conversation... Hope you enjoy it! Below, Tara talks about her sudden and completely unexpected 'triple-positive' breast cancer diagnosis (at age 32) and then turning to writing and blogging to share her story. "It feels good to feel seen", she says. The one thing that rescued me (from despair) - every time - was the knowledge that at least it was me, and not one of my kids, going through it" In the following clip, Mike attempts to explain his overarching vision for the Sanfilippo Project, in the hopes that Tara will be willing to help pitch in if called upon to do so ('absolutely, I'd be happy to' was her response). Tara then asks some questions to try to make sense of what Mike just attempted to explain (and understandably so, because he was pretty vague). She then shares some of her own passions and interests as an educator - and how her own personal/medical journey have inspired her to help others "learn how to learn" to not only pick themselves up from trauma - but to then bounce back even stronger and more resilient than ever. Not only are we trying to help build resilience (to trauma/etc.), but we're also building anti-fragility too"  Sanfilippo mom and fierce advocate Brittany Lagarde will do and try anything it takes to keep her daughter (Sawyer) going - including eye-gaze technology that has opened her eyes (literally) to an exciting new communication ability - and incredible potential for children everywhere with neurodegenerative conditions.  In a recent conversation (on 6/21/24), I had the pleasure of speaking with Brittany Lagarde, a devoted Sanfilippo mom from Wisconsin (now living in Minnesota). She and her husband Sam have two kids - Sawyer (Sanfilippo type A) and Zion (an amazing little brother). Despite being non-verbal, Sawyer has made remarkable strides over the past couple months in 'speaking' to her family thanks to an innovative new eye-gaze communication device. Brittany shared her (still new) journey with this device, explaining how it works and the profound impact it has had on their daily lives. Essentially, this eye-gaze communication device tracks her daughter's eye movements, allowing her to select words, phrases, and even entire sentences on a screen. This breakthrough has given her daughter a voice, enabling her to express needs, emotions, and thoughts in a way that was previously unimaginable. The specific eye-gaze technology Brittany's daughter uses is the Tobii Dynavox EyeMobile Plus. This device combines a tablet with eye-tracking technology, allowing users to control the device with their eye movements. It is designed to be intuitive and user-friendly, making it accessible even for young children and those with limited mobility. For families affected by Sanfilippo Syndrome, tools like the Tobii Dynavox EyeMobile Plus offer a glimmer of hope and a tangible means to enhance communication and connection. For more information on this technology, visit the Tobii Dynavox website. We are very grateful to Brittany for sharing her experience and inspiring others in the Sanfilippo- and rare disease communities at large. To follow Brittany (@happylagardeless) on instagram, click here. Or search for @happylagardeless. To watch an adorable video of Sawyer 'speaking' to her parents using this innovative new eye-gaze technology, click here. Below you will find two video segments -- the first is a 4-minute clip of Brittany explaining the eye-gaze communication device and how it works. The second is the full (20-minute) conversation. Brittany explains the eye-gaze communication device (4 minutes long): Full interview (6/21/24) with Sanfilippo mom Brittany Lagarde (20 minutes long):  A few years after her son Lucas passed away from Sanfilippo Syndrome, Iowa (IA) mom Stacey Montgomery was taken aback by a question posed to her from a newly diagnosed Sanfilippo mom looking for answers - "What do children with Sanfilippo actually die from?" As Stacey explained (during a Sanfilippo Roundtable conversation that took place in 2022) , it’s a complicated question - and each child's journey can be quite different from other children's.  New York mom Kathleen Buckley was (and still is) an accountant by profession, with no science background whatsoever, back when her son Matthew was diagnosed with Sanfilippo Syndrome over 15 years ago. But what she did (and still does) have is tenacity and the willingness to put in the long, hard hours when there's a problem that needs to be tackled and solved. Kathy used that tenacity and grit back in 2008 to start up the Team Sanfilippo Foundation, a 501c3 nonprofit medical research foundation dedicated to the funding of potential therapies and breakthroughs that can be part of clinical trials in the near future. To learn more about the Team Sanfilippo Foundation, you can visit their website here. You need to know the disease inside and out in order to be able to make informed investment and spending decisions for the foundation."
CRISPR is a technology that allows us to cut out a specific part of the DNA, and put in a new (and better-working) part in its place" - Sage Arbor PhD, Duke University biochemist  "I've wanted to be a chemist since age 10" -- SFP chief science correspondent Dr. Sage Arbor, PhD (biochemistry) Non-profits, foundations and 501(c)3 organizations - A lawyer breaks it down (in layman terms)1/18/2024  Canton MA native (now a DC resident) Eric Paisner is not only an avid and active supporter of the fight against Sanfilippo Syndrome - he has donated, advised, and actively participated in the Save Connor / Cure Sanfilippo Foundation fundraising campaign over the years - but he also happens to be a lawyer. And a very smart one at that. So I called upon my former high school classmate and longtime close friend to share his wisdom with us. Eric has worked most of his career as an attorney in the non-profit space, and therefore knows the ins and outs of setting up and operating nonprofits and foundations. In the rare disease world, parents and caregivers often hear a lot of jargon and conversations around non-profits, foundations, charitable giving, etc. What is a 501c3? And why are certain fundraising vehicles tax-advantageous over others? This lawyer explains.  Her son Carter (Sanfilippo Syndrome, type A), now 11, was diagnosed with chronic pancreatitis just shy of two years old. And he spent nearly 80% of his second year in life living in a hospital. Shortly thereafter, it was portal vein thrombosis (PVT) that was causing major medical complications. Eventually it was an astute, super-well-informed geneticist who delivered the ultimate bad-news blow to the Sarkar family — that their beautiful boy Carter (almost 4 at the time) has Sanfilippo Syndrome. “He’s the strongest kid I know”, she says.  Jennifer Sarkar with her kids, Carter ("C-Money") and Sophia Jennifer Sarkar is a lifelong Los Angeles (California) girl, born and raised and still living there today with her family of 4. She had professional dreams and ambitions of her own many years ago - becoming a nurse, or maybe even a lawyer - and ultimately becoming a mom to (healthy) children. But like a lot of special needs families - and especially mothers - those dreams sometimes get seriously derailed when your nightmare scenario (unhealthy child with a terminal, life-shortening illness) becomes a reality. And that reality meant the Sarkar family needed Jennifer home with Carter, while her husband Samir pursued his dream to build and run a business that now allows kids everywhere to play sports and learn the important lessons of teamwork and sportsmanship. Since then, Jennifer has been essentially Carter’s “right arm” throughout his heroic journey as a Sanfilippo warrior - fighting a whole slew of health challenges and other terrifying experiences. She even home-schools him - almost unheard of for Sanfilippo families (it's exhausting!) - because the reality is that Carter is such an elopement risk that it would take at least two individual aides in the classroom to be able to assist him AND prevent him running out the doors of the school at any time. She’s pretty much half-nocturnal at this point in her life, as her son’s bedtime now varies from anywhere between midnight and 7AM. Yes, 7AM. But no matter how sleep deprived she may be on any given day, Jennifer is always ready, willing and able to help any other Sanfilippo parent out there who needs her advice and guidance. A few other fun facts about Jennifer:
To follow Jennifer on TikTok, go to: https://www.tiktok.com/@carterschallenge. To check out the “Saving Carter” video (produced by the Cure Sanfilippo Foundation) - which has raised over $1 million in the fight to cure Sanfilippo Syndrome - please click here: www.savingcarter.com. To learn more about the Cure Sanfilippo Foundation, click here: www.curesff.org To watch a fun, lighthearted music video that the Sarkar family created a few years back that explains Sanfilippo Syndrome, click here: youtu.be/looggQOYK1s. It was a pleasure and privilege being able to talk to Jennifer and share her story, and we at the Sanfilippo Project look forward to continuing our conversation with Jennifer and collaborating with her in the months ahead as we continue to build out and expand our platform and ultimately share more of our stories with the world... Click below to hear Jennifer share hers. A couple years ago, Carter had a huge bleeding-out episode and we almost lost him" - Sanfilippo medical mama Jennifer Sarkar  Carter "C-Money" Sarkar, Sanfilippo warrior  "I love this man so much!" - Jennifer, talking about husband Samir |
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