 “The Sanfilippo community on social media actually diagnosed (son) Ryder with a stomach infection before the doctors did” - Washington (WA) Sanfilippo mom Taci Lynn, on turning straight to her "Sanfilippo family" for advice and minute-by-minute guidance when she showed up to the hospital emergency room with her son Ryder.
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 "Several years ago, I made a list of things I wanted to achieve before turning 30, and one of those things was to find a cause I really cared about to get involved with. I had been involved in various causes at the time, but I wanted something deeper. Sadly, right before I turned 30, we received my niece Sadie’s diagnosis of Sanfilippo Syndrome. It has given me a lot of purpose to help not only her, but also other children out there across the world living with this disease - both now and in the future. When you give back, it makes you feel good. And that’s the gift of Sanfilippo.”  When Jessica Haywood’s niece Sadie Rae was diagnosed with Sanfilippo Syndrome 8 years ago, she knew that her sister-in-law (and best friend) Ashley - a brand new mom, whose daughter was experiencing frightening medical complications right from birth - was going to need all the help she could get. She didn’t hesitate. She was going all in, and she was determined to be in their corner every step of the journey going forward. Both sides of the family immediately rallied to her side. But from day 1, Jessica has been Ashley’s right-hand woman. She's the unsung hero - the behind-the-scenes Wizard of Oz, if you will - whose heart, hustle, creativity and deep sense of purpose have powered the Saving Sadie Rae campaign from day 1. Who is Sadie Rae, you might ask? She's the adorable little 8-year old firecracker from North Carolina whose personality and southern accent have captivated the hearts of millions on social media (TikTok, Instagram, etc.). She has Sanfilippo Syndrome (type A), diagnosed at the (ridiculously early) age of 4 months - having suffered several early medical complications right after birth, including brain surgeries - which prompted a very concerned Ashley to request from the doctors that they get genetic testing done for her young baby girl who was already fighting for her life. (For more on the importance and urgency of early genetic testing - and why the 'earlier the better' - click here for another recent interview with another Sanfilippo mom). Ashley and (Sadie's dad) Jason got her tested, and the results came back positive. The news was broken to Ashley by a phone call from the geneticist. She felt broken, terrified and alone. Interestingly enough, Jessica had already heard of Sanfilippo Syndrome before Sadie was even born. That's because she had learned (years prior) of a distant cousin of hers named Izzy who had lived with (and died from) Sanfilippo. Jessica never actually met Izzy in person, but she recalls being very moved and touched by her story at the time, which prompted her to learn about the disease and become emotionally invested in it long before her first niece Sadie was ever born. So she already knew that this disease was bad. Like, really bad. And so, when Sadie got diagnosed, Jessica knew what she needed to do. She was going to be there for her brother (Jason), Ashley and Sadie every step of the way going forward - and she was going to be proactive about it. She didn't just ask if she can help, she came with a plan to help. And she's never left their side since. When she's not pouring her heart into the fight against Sanfilippo Syndrome and managing the Saving Sadie social media, Jessica works as the Managing Partner of Otter Creek Investments, where she invests in and advises data analytics startups across various industries. She also serves on the board of the Cure Sanfilippo Foundation (where she currently manages the clinical trial data-sharing initiative), Jessica is also an active member of the Carolyn Smith Foundation board, which supports nonprofits in Tennessee and beyond. My conversation with Jessica and Ashley took place back in April of 2024. It's been fun getting to know them. They're both incredible women who have already done so much for the fight against Sanfilippo Syndrome, and it's a privilege for me to now call them friends. We at the Sanfilippo Project are very excited about finding opportunities to partner up with the Haywood girls in the future, because they both bring so much to the table by sharing their experiences and journeys. Below you'll find various clips from our conversation that I think you'll really enjoy. I put the clips in chronological order, so essentially they comprise the 'full' interview (if you watch them all). Enjoy! In the following clip, Jessica Haywood recounts the early years of her friendship with sister-in-law Ashley - right up until the moment that her niece Sadie Rae was born. In the clip below, Ashley talks about her pregnancy with Sadie Rae - followed by severe medical complications at birth and then the devastating diagnosis of Sanfilippo Syndrome that followed shortly thereafter. Shortly after Sadie's diagnosis, Ashley and family flew to South Carolina to meet the founders of Cure Sanfilippo Foundation along with other families with children with Sanfilippo. She recounts that experience in the clip below. Lots of people wanted updates on Sadie after learning that she was diagnosed with Sanfilippo Syndrome. Keeping up with those questions and requests soon became overwhelming for Ashley, which is when Jessica took the reins and help get the Saving Sadie Rae social media campaign up and running. Listen to both women talk about that experience here. Sadie was fortunate enough to be in a clinical trial for 2 years when she was really young. And the results were good; she was maintaining skills and seemed to be progressing well. But then the study was halted, because of lack of funding, which was devastating. That certainly takes its toll on a marriage, and Ashley's marriage was no exception. She shares those experiences in the clip below. The Saving Sadie Rae campaign has a lot of followers and has raised a lot of awareness about Sanfilippo Syndrome, a disease likened to childhood Alzheimer's. But how much do they want to grow the page going forward, now that Sadie has lost skills and the disease has progressed over the past couple years? Ashley and Jessica discuss in the clip below. Jessica Haywood joined the board of the Cure Sanfilippo Foundation a couple years ago, an opportunity that came about after years of doing great volunteer advocacy work for the foundation. Jessica explains here how that came about. "When you give back, it makes you feel good. And that, I've discovered, is the beauty of Sanfilippo." Jessica explains, below.  Florida mom Christin Ulrich is sweet, reserved and friendly on the outside, but she's also got a lot of fight and tenacity inside of her as well - especially right now, with her 4-year old daughter Veda's life on the line. Veda has Sanfilippo Syndrome (type A), with a life expectancy of early teens - if there's no progress against the disease until then. Fortunately for Veda and her family, there is hope, and scientific advances are being made daily in labs across the world. It's a race against time, and her family is now on the front lines of fundraising to help turn these scientific advances into actual life-saving clinical trials and treatments. Here's Christin's story - and her urgent plea to the world.  Palm Coast (Florida) mother of two Christin Ulrich realized early on that something was wrong with her daughter Veda (now 4 years old). As a young toddler, Veda seemed to possess a (quite literally) unquenchable thirst for liquids, as well as the (clearly related) condition of very heavy and continuous urination throughout the day. Veda's pediatrician at the time was puzzled as well but expressed little concern or sense of urgency at the time. And he assured Christin and her husband Jericho that there was no need for genetic testing at this time. From his professional/medical opinion, he told them, Veda at least did not appear to be diabetic - which was his main risk concern that he communicated to the family at the time. There was no mention or suggestion at the time that it could possibly be a rare disease (that could be tested for). But Christin’s maternal instinct (and professional experience in the healthcare space) were telling her otherwise. She was confused. "Why aren't they pushing for genetic testing?", she asked asked herself. She then asked the same to the doctors, again and again, but their lack of urgency didn't sit well with her. It just seemed to Christin like the sensible and most efficient way to rule out (or in) genetic conditions that can't be easily distinguishable by the naked eye. And so, the family visited another pediatrician to request a second opinion. And this time, when Veda promptly demonstrated (in the doctor's presence) a highly unusual ability and willingness of a two year-old child to gulp down 2 giant glasses of water in one sitting - almost like a human wet-vac - it prompted this new doctor to immediately order testing - at least for diabetes, which was his initial gut feel about this one. And so Veda got tested for diabetes. She tested negative. Once again, the Ulriches were sent on their way with no solutions or answers to the puzzling medical abnormalities that their youngest daughter Veda continued to demonstrate. Like many other rare disease families early in their journeys, the Ulrich family lived in a cloud of confusion over the next year that followed (leading up to Veda's Sanfilippo diagnosis) - and along the way came Veda's terrifying, out-of-nowhere temper tantrums, then the constant upper respiratory infections (and hospitalizations), continual ear infections, and a whole slew of other stuff - with still no answers. Finally, the Ulrichs decided to take Veda to a kidney doctor - one last shot at an explanation, they figured at the time. This kidney doctor heard the story, took one look at young Veda, and turned to Christin and said “Call genetics today, you need to get her in for testing. And it's going to take about a year before they can get her in.” Veda's genetic testing appointment was scheduled for 8/8/2022, almost exactly one year after she made the call to schedule an appointment (just like the kidney doctor warned her). “But I thought nothing of the 1-year time window at the time; I just figured, 'Ok it is what it is'.”. But several months later (in June of 2022) - about 2 months before that genetic testing appointment even happened - Christin was just randomly scrolling through her TikTok feed and came across a video of (Sanfilippo mom) Carrie Fowler and her daughter Haidyn, a widely followed (over 2 million followers) TikTok mom/daughter duo who were (and are) bringing about massive, widespread awareness of Sanfilippo Syndrome to millions of people across the world who had never heard of the disease before. “Oh my gosh, she (Haidyn) could be Veda’s twin!”, Christin told herself - scaring the living shit out of herself as she did a quick google search of Sanfilippo Syndrome to learn more. Hyperventilating, she immediately convinced herself that this must be exactly what Veda has. She even sent videos of Haidyn to her mother. Her mother, in turn, told Christin that she might want to get off the internet and looking at dying kids online. She told Christin that she was probably just hyper-paranoid from being around dying people all the time during the COVID crisis those past couple years - in her day job as an ultrasound tech. Christin was already suffering from depression at the time, and this just further ignited her worries and deepest fear. Veda Ulrich was then officially diagnosed with Sanfilippo Syndrome in August of 2022. But the Ulrich family refuses to let Veda go down without a fight - and they're determined to help their daughter leave a lasting and immensely positive legacy on the world in her battle for survival against the Sanfilippo monster. The family recently teamed up with the 501c3 nonprofit, Cure Sanfilippo Foundation (www.curesff.org) to produce (and release) a 3-minute film called Saving Veda. Released to the world (online) a little over a month ago (on 2/29/24 - Rare Disease Awareness Day), the Saving Veda film is essentially a 'Trojan horse' for the Ulrich family to help share Veda's story and make the world aware of Sanfilippo Syndrome - and, at the same time, raise desperately-needed (and severely lacking) funds to fuel the launch of clinical trials to help extend the lives (and happiness) of Sanfilippo children everywhere. “It’s hard putting your vulnerable self and your family out there for the world to see", explained Christin, "but it’s also so important for us to fight for our kids. And it's important for us to let everybody know - and see - that we are willing to do anything for Veda and all the other children across the world fighting Sanfilippo Syndrome”. Christin expressed sincere gratitude for the amazing support her family has received from people everywhere - not only family, friends and neighbors - but also strangers that are following Veda's fight and pulling for the Ulrich family. And the family is witnessing the beautiful power of humanity come together to fight for one of their own. “Our community is starting to rally around us for sure”, she said. Please support the Ulrich family in their fight to save Veda's life from Sanfilippo Syndrome, and click here to watch the Saving Veda film. Christin, thank you for your fight! In the following clip, Christin talks about the days following Veda's Sanfilippo Syndrome diagnosis - and how the Sanfilippo community rallied to her family's side during their darkest hours: It felt like the entire Sanfilippo community was just giving us a big hug during our time of need" To watch the full interview, click below: It’s hard putting your vulnerable self and your family out there for the world to see, but it was important for us to let everybody know - and see - that we are willing to do anything for both Veda and all other children across the world fighting Sanfilippo Syndrome”   Four years ago, shortly after receiving the devastating and soul-crushing news that her daughter Skyla Rae (5 years old at the time) was diagnosed with Sanfilippo Syndrome (aka “childhood Alzheimer’s”), Stacey Reynolds began planning Skyla’s funeral. “I knew it wasn’t going to be something I would want to do after she died”, said the Oldham (United Kingdom) mother of 4. As difficult and heartbreaking as it was at the time to plan her own daughter's funeral, Stacey is grateful she did it - because it ultimately allowed her to give her brave, beautiful Skyla Rae the fairytale sendoff that she so deserved - complete with a princess coffin, horses, a flock of doves, the whole nine yards (as they say in America) - perfectly befitting of the brave and beautiful warrior princess that Skyla was and will forever be in the hearts and souls of so many that followed Skyla’s (and mum’s) heroic Sanfilippo journey over these past few years. Stacey described her daughter Skyla Rae as a feisty little "firecracker", the "life of the party", and the glimmering ray or light wherever she was. She knew nothing but love and affection - to family, friends and strangers alike. But under that soft sweet exterior and radiant smile was a fighter. A brave and positive minded little Sanfilippo warrior child who touched and inspired the world with her heroic journey. She was in and out of hospitals, month after month, fighting as hard as she could. In the past, she had always bounced back from brushes with death, but not this time. Her little body had given it everything she had left. She was only 9 years old. And now, Stacey vows to honor Skyla's memory and legacy by continuing the fight against Sanfilippo Syndrome and other MPS diseases until they're eradicated and no longer taking the lives of innocent children. One of the specific causes that Stacey is now fighting for is the urgent need to make comprehensive genetic testing fully available to families everywhere—and as early in the child's life as possible. Early genetic testing is a cause that Stacey's quite passionate and fired up about, because it really hits home. In fact, Stacey and her family first learned of Skyla’s Sanfilippo Syndrome diagnosis when she was five years old - and ultimately left the family with 4 short years to not only grieve this very emotional and life-changing ‘loss’ of her daughter, but also—at the same time—raise this very daughter (Skyla) to be the best, bravest and happiest version of herself that she could possibly be, during her short time on this Earth. Stacey Reynolds did just that. She fought to the end with her daughter, tirelessly, and that fight will carry on because it has already fueled a fire and a mission inside of her more powerful than she ever imagined. “If my efforts can help save even just one other family the heartache that Skyla and our family went through", said Stacey, "then it will be well worth it”. Rest in peace, beautiful Skyla Rae. Your life mattered. And your fight and legacy will live on. To support Stacey’s campaign to create “Skyla’s Law” in the UK—an initiative to educate and encourage medical communities and new parents about the importance and availability of early genetic testing--please visit here to sign the petition. In the clip below (1 minute), Stacey talks about her daughter Skyla and what made her so special... and directly following that you'll find the full interview (7 minutes) - which took place on February 8th 2024, only a month after Skyla passed away. The world was her oyster, and this disease (Sanfilippo Syndrome) just took it all away from her " Click below for the full (7 minute) interview: There was only so much her little body could take. She let me know she had had enough. She let me know it was her time".        Lt Commander William ('Billy') Pacl of the US Navy is not only an officer and a gentleman, but he’s also a Sanfilippo dad. And a deeply loving and devoted one at that. What is fairly unique and interesting about Billy's rare-disease parent journey, however, is that he spends nearly half of his days away from his family - underwater, in a nuclear submarine (sometimes going 'dark' for months at a time) - serving and protecting his country from foreign and domestic threats on the open seas. Billy's wife Noelle, meanwhile, happens to be a TikTok superstar (with a whopping 3 million followers at this point) - having harnessed the immense power and reach of social media over the past few years to share her son Logan's journey with an ever-growing audience and educate the world about Logan's (ultra-rare) genetic disorder, Sanfilippo Syndrome (type A). But Noelle insists that Billy is truly the unsung hero in the Pacl family. "Billy is seriously one of the most selfless people I know", Noelle said. "Everything he does, he does with others in mind - whether it's his family, his submarine crew, or even complete strangers". He also happens to be "wicked smart", according to Noelle. In fact, Billy holds both a physics degree and a degree in public administration (focusing on nonprofit work) - a pretty rare combination of academic interests, no doubt, but it's one that makes perfect sense for a man in the unique shoes of Billy Pacl, who applies nuclear physics in his day job (in the Navy) while at the same time raising a boy with a genetic disorder nicknamed "Childhood Alzheimer's" and helping to raise awareness for the disease. Billy's an accomplished athlete as well, having won a bunch of running races in his day. Billy has always turned to exercise and athletics for managing his stress - whether he's on land or on a submarine (there's always a way to get a workout in). In the past, it's been mainly distance running (Noelle insists he could wake up any random day and easily complete a marathon), but recently he's become an avid weightlifter during his latest stint on shore. Billy's deep love and appreciation for his family is quite evident by the way he speaks of them. He's in awe of his wife Noelle's strength and perseverance in "holding down the fort" - and taking care of Logan every single day - especially those times when he's out on duty at sea for extended lengths of time. Billy's first stint away at sea was for about 3 months. What he remembered most about that first one is that his son Logan (6 at the time) didn't seem to recognize him when he returned to land. As Billy told me, that was a pretty jarring and heartbreaking experience for him at the time. Since that one time, though, Logan has had no trouble recognizing and getting very excited about seeing his dad when he returns from sea. Billy's longest-ever stint in complete 'dark' was last year - underwater for six full months - with no contact whatsoever with anybody outside of the submarine (no internet, phone, Zoom, nothing). In our conversation (which took place on Feb 1st 2024), Billy told me a little about his life and upbringing, his professional journey and career path as an 18-year member of the U.S. Navy, and about some of the unique challenges associated with being away from your family for an extended length of time - and then readjusting to "land life" upon return. I wanted to know, how does Billy "fit back into the mix" when he returns to land and is with his family, after Noelle's been holding down the fort on her own for those past 3 months? How does Billy feel about the healthcare system - called TRICARE - that's available for Navy (and military) families like his? And how did his family navigate that healthcare system in finding Logan the right medical resources along his Sanfilippo journey? You'll hear about all that and more in our conversation. In case you were wondering (like I was, when I first heard the term)... TRICARE is the uniformed services health care program for active duty service members (ADSMs), active duty family members (ADFMs), National Guard and Reserve members and their family members, retirees and retiree family members, survivors, and certain former spouses worldwide. For more information, visit their website at https://www.tricare.mil/. As for Billy in the near term... He told me that he expects to be on ‘shore duty’ for the next 6 months (but that could always change, of course), and we look forward to having him share more of his story and contribute his important voice to the Sanfilippo Project in the months ahead. Lieutenant Commander Pacl, thank you for your service to our country. * Below you'll find several video clips from our interview (each 1-2 minutes long). Directly below that you can find the full interview (19 minutes long). The biggest thing I noticed when I got back was that Logan (6 years old at the time) seemed to not recognize me at first" I always thought it was a cool and unique thing, because while others on my ship might have photos of family members on their computer, I'm able to to have hours and hours of video of my family while I am underway at sea, sometimes for months at a time. Now, before every time I go underway, I ask Noelle to download the videos for me ahead of departure, so that I can view them whenever I have the time while away from my family." When a Navy family is relocated and required to move, they often don’t receive the official order to move until 2 months before the move, which doesn’t allow for a lot of time to get new doctors and specialists in place for the special-needs family member (Logan, in this case) moving to an entirely new area or town. And for those, there’s often at least a 6-month waiting list just to be initially seen. It almost guarantees that you’re going to have some sort of gap in coverage or services upon moving" Click below for the FULL interview:       Washington (state)- based Sanfilippo mom Noelle Pacl was born in Germany (dad was a U.S. military officer) and spent her first nine years there, then from there she and her family moved to Texas, where Noelle spent her middle school and high school years. It's there where she met her (eventual) husband Billy. She knew him only as casual acquaintances back in high school, but got to know him during a summer job following high school and their relationship would only blossom from there... I love running. I have to get that in every morning, if I can. That's my alone time."  Stephanie Hernandez was absolutely shattered the day she found out from the geneticist that her son Jay was diagnosed with Sanfilippo Sndrome (type C). "It was like I died on that day, and I've been mourning ever since", she says. The Sanfilippo Life is a harsh terrain to navigate, a constant balancing act between remaining hopeful, happy and positive-minded on the one hand - counterbalanced with the ever-present, constantly buzzing-in-your-air fear of watching your own child lose every single skill they have - and then lose their life, way too early. Stephanie especially loves her beautiful boy's voice, and the way he soothes her when she's stressed out or anxious. And she can't imagine losing that. One person who is providing hope to Stephanie is a 15-year old boy named Connor Dobbyn - also with Sanfilippo Syndrome type C - because of Connor's ever-loquacious car rides with his dad, which have inspired Stephanie and her husband to believe that perhaps they too will be fortunate enough to hear their son Jay's voice for many, many years to come. Click below for video segment (2 minutes long) where Stephanie talks about being inspired by fellow Sanfilippo type C warrior Connor Dobbyn's Sanfilippo journey from the other side of the country (thanks to the power and impact of social media): When I found out that your son Connor also has Sanfilippo type C, it gave me hope that my son Jay will still be able to talk and laugh and smile for a long time to come "       To watch the full (12-minute) interview with Stephanie, click below: She was so welcoming, and so helpful. And what I appreciated is that she didn't sugar coat it. She told me, "This is what's going to happen, and here's what you need to be aware of" "  When Tennessee police officer Shaun O’Neal’s youngest son Kiernan (age 5 at the time) accidentally fish-hooked a bungee cord through his own bottom lip while taking a drive with him in his pickup truck, Shaun had no idea it was ultimately going to lead to a devastating Sanfilippo Syndrome diagnosis for his son. By pure coincidence, one of the nurse practitioners at the doctor’s office (where they took Kiernan to get his mouth checked out the next day) happened to be knowledgeable of MPS disorders in general (of which Sanfilippo is one), and she suggested to Shaun that they take Kiernan for genetic testing because, as she explained to him, Kiernan's physical features and oral fixation seemed spot-on for an MPS disorder. The O'Neals took the nurse practitioner's advice and got Kiernan genetic tested. And when the geneticist ultimately came back with a diagnosis of Sanfilippo Syndrome a few weeks later, no Googling of 'Sanfilippo Syndrome' was needed. That’s because the son of one of Shaun’s high school classmates - a little boy by the name of Lucas Hembree (one town away) - had just passed away (40 days prior) from Sanfilippo Syndrome. The O’Neal family had closely followed Lucas’s story. “We knew instantly that this diagnosis was really bad”, said Shaun.    Shippenville PA mom Jamie (right) with son Trenton (18 yrs old, Sanfilippo type A) In her 23 years as a special needs teacher, Jamie Hooks has worked with many children of all different backgrounds, with cognitive and physical disabilities of all sorts. But, not once over those many school years and classrooms had Jamie ever had a student who displayed signs of cognitive regression and childhood dementia-like symptoms. So when her own son Trent (now 18) was diagnosed with Sanfilippo Syndrome (type A), back in 2019 (at age 13), the Shippenville (PA) mother of three almost couldn't believe what she was hearing. Getting a diagnosis like Sanfilippo Syndrome rattles an entire family to the core and changes them forever. But it also causes us to seek human connections that help us to feel less alone in our journeys. And that's exactly what Jamie and her family did. Shortly after receiving Trent’s diagnosis, the Hooks family traveled to a National MPS conference and, for the first time, had the chance to meet (in person) many other families that find themselves along the very same harrowing journey. While at the conference, Jamie made it a point to step outside of her comfort zone and introduce herself and get to know each and every single Sanfilippo family in attendance that weekend. After all, she says, “These people are all my family now”. We are all on this journey together"  The Hooks family, Christmas 2023  Julia Berzoy lives in Florida and is the mom to son Lucas, who was diagnosed with Sanfilippo Sydrome (type C) very recently, in late 2022 – a distressful year for her and her family, to say the least, given that a lot of her family members still live in Ukraine. She recently participated in a Sanfilippo Roundtable chat with other Sanfilippo parents, where she shared her story about her son's path to a diagnosis and navigating life following this devastating news.  |
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