Podcasts about sanfilippo syndrome

ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich's Ataxia Kyle was diagnosed with Friedreich's Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben.  Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. TUNE INTO THE ONCE UPON A GENE PODCAST ⁠Spotify⁠ ⁠https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7⁠ ⁠Apple Podcasts⁠ ⁠https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347⁠ ⁠Stitcher⁠ ⁠https://www.stitcher.com/podcast/once-upon-a-gene⁠ ⁠Overcast⁠ ⁠https://overcast.fm/itunes1485249347/once-upon-a-gene⁠ CONNECT WITH EFFIE PARKS ⁠Website⁠ ⁠https://effieparks.com/⁠ ⁠Twitter⁠ ⁠https://twitter.com/OnceUponAGene⁠ ⁠Instagram⁠ ⁠https://www.instagram.com/onceuponagene.podcast/?hl=en⁠ ⁠Built Ford Tough Facebook Group⁠ ⁠https://www.facebook.com/groups/1877643259173346/

“I am so thankful that we had that one Christmas without knowing…” Jill Wood.When Jill's son Jonah was born, there was no sign that he was anything but adorable. However, at his 1-year visit, his pediatrician noted Jonah's larger than normal head and several other symptoms. He connected the dots and ordered further testing. Eventually Jonah was diagnosed with Sanfilippo Syndrome or mucopolysaccharidosis type III (MPS III). Jill began connecting with other Sanfilippo families and eventually started a company to search for treatments. She found along the way that she could find support from willing researchers, win grants from the National Science Foundation, and even overcome language barriers to reach families around the world. She has made great progress and is very grateful for all the help she has received. As you can imagine, Jill is very energetic. Her story is inspiring and educational. Her main piece of advice to newly diagnosed parents, “Take a deep breath and calm down. Appreciate your child.”

On this week's episode of "What I Wish I Knew", I sit down with Tim Byers. Tim Byers, PE, is a Deepwater Completion Engineering Advisor for Occidental Petroleum Corporation in The Woodlands, Texas. Tim has worked for Anadarko (now Occidental) since graduating as a petroleum engineer from Marietta College in 2006. He has held a variety of increasingly technical roles in several geographic locations during his tenure with Anadarko. He also volunteered as a lead campus recruiter for Anadarko at his alma mater for several years. Outside of work, Tim loves spending time with his wife Valerie, their two children, William and Samantha, and their dog Buster. Tim and Valerie work tirelessly with the Cure Sanfilippo Foundation to advocate for a treatment or cure for Sanfilippo Syndrome, a rare, terminal genetic disorder that William was diagnosed with in 2015.

Send us a textIn this deeply personal episode of Confessions of a Rare Disease Mama, I sit down with Ashley Haywood, a devoted mother and passionate advocate for her 8-year-old daughter, Sadie, who is living with Sanfilippo syndrome. Often referred to as "childhood Alzheimer's," Sanfilippo syndrome is a rare and progressive genetic condition that profoundly impacts children and their families.Together, Ashley and I explore how our children's life-changing diagnoses reshaped our lives in ways we never expected. We reflect on our shared experience of initially retreating from our communities after receiving devastating news, a natural but isolating response to overwhelming grief. We also discuss the transformative journey that followed as we found purpose, strength, and connection in advocacy and community support.Ashley shares her family's path from diagnosis to their current reality, highlighting the challenges and triumphs of raising a child with a rare and terminal disease. From navigating clinical trials to building awareness for Sanfilippo research, and then navigating divorce in the midst of it. Ashley's story is a testament to the resilience and unwavering love of rare disease families. Follow Sadie's journey on instagram Learn more about Sanfilippo syndrome hereShop Sadie Rae merch here (Proceeds to to Cure Sanfilippo Foundation)Be sure to follow us on social media and subscribe for more episodes that bring you stories and insights from those who truly understand the rare disease journey. Purchase my new children's book Soaring Together now available on Amazon and at Barnes and Noble https://www.confessionsofararediseasemama.com/Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt & other merch!Learn more about my children's fight with ASMD and donate to our causeFollow us on instagram!

ONCE UPON A GENE - EPISODE 225 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief. EPISODE HIGHLIGHTS As a sibling under potential pressure to not be a burden, do you still carry those feelings even after Ben's passing? It's hard as a sibling to see everything your parents are facing that's out of your control. As a sibling, there's a need to be on top of your own care and your own emotions. There were no casual complaints in my family growing up. It was either a disaster or business as usual. Filling in that middle space where you have a bad day and want to talk about it didn't exist. We've had to work on that as a family because that's not how we've functioned.  What coping mechanisms help you to write and talk about your experience? I came to the realization that I was going to be emotionally vulnerable, which is uncomfortable. Knowing I would have to talk about my experience and brother, I had to accept it, put it out front, and get really good at talking about it comfortably. I got more comfortable talking about the progression of my brother's disease and my feelings around him, and I used it as a shield.  What would you say to the young person who is living the same life you were living and what questions should people ask that person? The first thing that I would say, and maybe the best thing to ask that person, is about their roles. When do you feel like a sibling? When do you feel like a caregiver? When do you feel like you're an advocate? When do you feel like you are just you? I got stuck in trying to be a lot of those things at once, where the easiest role to ignore was being just me. But everything you push down morphs into something worse. Frustration turns into resentment, fear turns into trepidation, sadness becomes melancholy.  What are the misconceptions people have about death? The biggest problem with grief is that no amount of experience is applicable. It defies the ability to be prepared for it or to use your past to help you cope. I don't think grief gets easier, I think you get better at it. Those that try to give advice to people that are grieving are hanging on to the idea that that time will heal. It's not that your grief goes away, it's that you get better at it. How has your relationship with your sister changed? Ben's death brought us closer and we do a good job of communicating despite handling things differently. There's no right or wrong way to navigate life with a sibling who has a genetic disorder, so we don't judge each other and we're honest with each other.  As a parent, how do you help siblings to have a better experience? Abandon the idea that you owe siblings normalcy. My parents put a lot of effort into delivering normal childhood experiences. Instead, put that energy into helping your children articulate what they want. More important than chasing normal is helping siblings decide what's important to them and how to pursue it. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins https://effieparks.com/podcast/episode-109-what-i-know-for-sure CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Sarah Warden knew that her son, Callum wasn't progressing as he should, but she could never have predicted what was causing the delays. Callum's final diagnosis was Sanfilippo Syndrome, a rare genetic condition described as ‘childhood dementia'. This week, Sarah talks about how she had to persevere to get the right diagnosis, and what this rare condition means for her life and her family.   LINKS Check out the Sanfilippo Children's Foundation on Instagram https://www.instagram.com/sanfilippochildrensfoundation/To visit the Sanfilippo Children's Foundation website click HERE To donate to Sarah's fundraiser click HERESee omnystudio.com/listener for privacy information.

ONCE UPON A GENE - EPISODE 205 Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman Jennifer Siedman is a relatable, rare mom who has a lot of experience with rare disease. She is the Director of Community Engagement at the Courageous Parents Network and joins us to share her approachable strategies for engaging with friends and acquaintances as a rare parent or caregiver. EPISODE HIGHLIGHTS What is the supermarket answer and what is the origin of it? The questions we get out at the supermarket are often simple and common— like "How are you?", "How is your child?", "How can I help?" or "Do you want to grab dinner?". I would get a barrage of questions and comments from people I bumped into at the store and I would have to think each time how I would answer. It felt complicated and I created a strategy to help, called the supermarket answer. It's a mental list that I would go through in my head to determine if someone wanted and could handle the truth, or if they just wanted the supermarket answer. We live a life others find difficult to connect with and it makes us feel disconnected to give the supermarket response and state that everything is great when it's not. I found that because I became comfortable in the process of evaluating what someone was looking for in their question and, more importantly, comfortable with determining what I needed in that moment, I started asking people what answer they were looking for. What is the strategy checklist? Ask yourself: What am I up for emotionally? What is the other person up for emotionally? What truth do you feel like telling in that moment? Do you need to share a trial or triumph? Are there situations where you feel more inclined to answer an honest and thorough answer over a supermarket answer? If I go to a party where there are few people that would relate to my life, I often feel myself aligned with sharing only the supermarket answer. On the other hand, I find that I almost never give the supermarket answer when I'm within my disease organization or with other parents that understand me and they're able to receive my emotional baggage the same way I can receive theirs. What is your advice for parents who are struggling to share their story? It's your story to tell however you want to tell it and it will evolve over time. Owning it and knowing you can tell little truths or big truths, depending on the day, can be very empowering and make answering those uncomfortable questions more comfortable. Understanding your own capacity to hold your vulnerability will help you embrace your story and know when it's the right moment to let big truths out. LINKS AND RESOURCES MENTIONED ONCE UPON A GENE - Episode 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman https://effieparks.com/podcast/episode-114-noah-siedman ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins https://effieparks.com/podcast/episode-109-what-i-know-for-sure ONCE UPON A GENE - Episode 100 - A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point https://effieparks.com/podcast/episode-100-rare-collection-because-of-you Courageous Parents Network https://courageousparentsnetwork.org/ Dante Labs https://us.dantelabs.com/ CONNECT WITH JENNIFER Email jennifer@courageosparentsnetwork.org jennifer@courageosparentsnetwork.org CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https ://www.facebook.com/groups/1877643259173346/

Avery Brizzee is the namesake for the Bravery for Avery event, a race that's in its second year. At the age of six, Avery was diagnosed with a rare form of childhood dementia called Sanfilippo Syndrome. “At 5-years-old she wasn't where she needed to be as far as motor skills,” Jessika Torrans, Avery's mother says. Originally Avery's parents thought that she had a behavioral disorder and they also had Avery perform an IQ test in an attempt to identify her condition.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.03.27.534462v1?rss=1 Authors: Tan, S. L., Hewson, L. J., Mustaffar, N. F., He, Q. Q., Wimmer, N., Trim, P. J., King, B. M., Snel, M. F., Hemsley, K. M., Ferro, V., O'Keefe, L. V., Lau, A. A. Abstract: Sanfilippo syndrome, or mucopolysaccharidosis (MPS) types A, B, C or D, are neurodegenerative lysosomal storage disorders resulting from the lack of a specific enzyme involved in heparan sulfate (HS) catabolism. Several treatments are under evaluation for these conditions including substrate reduction therapy, with the most studied compound of this class being the isoflavone genistein. However, recent outcomes from a Phase III clinical trial have shown that high dose oral genistein does not significantly improve neurodevelopmental outcomes in MPS III patients. Here, we have tested an N-acetylglucosamine (GlcNAc) analogue inhibitor, 4-deoxy-GlcNAc peracetate, at reducing HS accumulation in cells from patients with Sanfilippo syndrome as a novel substrate reduction therapy. We then confirmed the capacity of this compound to modulate substrate accumulation in vivo in a Sanfilippo Drosophila model. Treatment with this compound significantly reduced HS in cultured MPS IIIA patient fibroblasts in a time-dependent manner. Neuronal and ubiquitous knockdown Drosophila models of MPS IIIC displaying elevated heparan sulfate and behavioural defects exhibited reduced HS burden relative to vehicle-treated controls following oral feeding with the GlcNAc analogue inhibitor. These findings indicate that this compound may be beneficial in slowing the accumulation of HS and may represent a novel therapeutic for Sanfilippo syndrome. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Ever heard of Sanfilippo Syndrome? It's referred to as “childhood dementia”. Ashley's daughter, Sadie, lives with this diagnosis. We were blessed enough to have Ashley explain this journey to us!  *These weekly interviews address a variety of topics ranging from OCD to eating disorders. The end goal of these chats is to bring important conversations to the table to help increase awareness, spread love, and encourage people feel less alone. *Interested in helping this project continue? Message, email, or join Patreon to be a part of the family.  TOWNSEND INFO: Spotify: https://open.spotify.com/artist/5QLwd... Website: https://www.townsendtmusic.com YouTube: https://m.youtube.com/channel/UCFyBoi... Facebook: https://m.facebook.com/townsendtmusic Patreon: https://www.patreon.com/TownsendTMusic Instagram: https://www.instagram.com/townsendtmu...

ONCE UPON A GENE - EPISODE 170 A Rare Collection - New Beginnings There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Noelle When your child has a progressive, degenerative disease, you learn that every moment is precious and to roll with the punches. My son Logan has a rare genetic disorder called Sanfilippo Syndrome, a progressive and fatal disorder that causes mental and physical deterioration. Children lose the ability to perform skills such as walking, talking and swallowing. There's not currently a treatment or cure. The day Logan was diagnosed, I learned life doesn't always go as planned. The picture perfect future planned in my head was gone. I grieved my child and the future I thought we would have. I was scared of the new future and I closed myself off emotionally. I can't change what the future holds for Logan, but I don't want to miss up on feeling the love, joy, and even the sadness that comes along with this new beginning. I live in the moment and when something goes wrong in life, I yell "plot twist" and move on.  Frances In Emily Rapp Black's memoir, The Still Point of the Turning World, she describes parents of terminally ill children as dragon parents. Like medieval map makers inscribing unknown regions of the world, we represent a parent's worst fear- the grief of receiving a death sentence for their child. My daughter Violet passed all of her newborn screenings in the hospital, but I soon became concerned with how sleepy she was and how difficult she was to feed. Our pediatrician referred us to a neurologist who ordered a brain ultrasound and genetic testing, but the results didn't offer any answers. With more symptoms developing, I sought out more opinions and Violet was finally diagnosed with a rare and fatal mitochondrial disease called pyruvate dehydrogenase complex deficiency (PDCD). My transition and new beginning as a dragon mom had already begun as I flew around every last corner of the internet hunting for answers, ready to breathe fire upon anyone who tried to harm my daughter. Violet is a powerful unicorn teacher and I am her fierce and loyal dragon. Patrick My son Calum has rare chromosome abnormalities. His first seizure was scary and opened a chapter full of new beginnings. As his dad, this chapter taught me to be grateful and to have a perspective that allows me to celebrate every moment I can. Calum's first seizure was an awakening. I realized that I needed more opportunities and experiences with my kids and to focus more on them and less on myself and my work. We celebrate every day like the new day it is and Calum has given me that perspective. CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Today Im sitting down to chat with Ashley Haywood. Shes the mom of 6 year old Sadie Rae who is a viral sensation on tik tok and instagram @savingsadierae where she spreads advocacy and joy. Sadie Rae was diagnosed with Sanfilippo Syndrome which is  childhood dementia. I wanted to have mom come on and share to bring awareness and also to encourage other parents with special needs even if you don't have the same diagnosis.   If you are looking to join our support circle you can do so by tapping he link. I'll see you there. http;//mojsupportcircle.app

In this weeks Dementia Researcher Podcast, we hear from Dr Karissa Barthelson, one of the latest Race Against Dementia Research Fellows from Flinders University – discussing her research, and specifically an introduction to Sanfilippo syndrome, a rare form of childhood dementia, and her research on this disease. Regular Dementia Researcher Bloggers Dr Anna Volkmer & Dr Kamar Ameen-Ali lead the interview, helping us to understand Karissa's work and exploring the science. All types of neurodegenerative diseases share common molecular mechanisms responsible for disease etiology and progression. Karissa, is interested in understanding these shared mechanisms, as targeting the common problems could lead to new therapeutics to benefit more individuals who live with these diseases. To understand the shared molecular mechanisms, Karissa utilises zebra fish, as a model organism. Introducing mutations into zebrafish, equivalent to those which cause neurodegenerative diseases in humans (e.g., Alzheimer's disease, Sanfilippo syndrome childhood dementia), then analysing their brains with very high molecular detail. For more information about Sanfilippo syndrome visit: https://en.wikipedia.org/wiki/Sanfilippo_syndrome For more information on Race Against Dementia visit: https://www.raceagainstdementia.com You can find out more about our panellists, and their work on our website. There you will also find a full transcript: www.dementiaresearcher.nihr.ac.uk/podcast-researching-sanfilippo-syndrome -- Like what you hear? Please review, like, and share our podcast - and don't forget to subscribe to ensure you never miss an episode. This podcast is brought to you in association with Alzheimer's Research UK and Alzheimer's Society, who we thank for their ongoing support.

ONCE UPON A GENE - EPISODE 133 The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Frances Garber Mary-Frances Garber is a Genetic Counselor who has a private practice where she offers support to patients and families affected by a rare disease diagnosis. We discuss emotional responses to grief, shame and guilt. EPISODE HIGHLIGHTS Where does your career in genetic counseling begin? I was fortunate to get into the program at Sarah Lawrence College, where the field of genetic counseling originated. I wanted to be a medical provider with a focus on helping people understand genetics. I also enjoyed the counseling side and focused my early career in high-risk obstetrics. I opened my personal practice to provide ongoing supportive care to patients, parents and families who are experiencing something related to genetics, during pregnancy, in pediatric settings or as adults.  How do you help a parent who feels an overwhelming guilt after their child is diagnosed? I sit with them, I'm present and I listen. Guilt is self-imposed and it's easy to get stuck in guilt and the early stages of depression after a diagnosis. Sometimes it takes time, but my hope is that someone can eventually see that the guilt they feel isn't necessarily the appropriate emotion. I remind patients to be good to themselves and to journal about why they feel guilt so they can take the feelings from their heart and head, put it on the paper and expel or release it. How is feeling ashamed different from guilt? Parents sometimes feel ashamed as a result of thoughts they've had about their child. We're all human and we have faults. When we're tired or overwhelmed, we have negative thoughts. Feeling ashamed, just like feeling guilty, isn't justified when you're trying to do your best.  What advice can you share for supporting someone who is going through a genetic diagnosis? My patients often don't want to share their news because they don't want to be pitied and they don't want to get questioned, especially when they can't answer a lot of questions themselves. Just be there, listen, reflect on what they say, validate their feelings and try not to bombard them with questions. LINKS & RESOURCES MENTIONED Listening Reflecting Healing listeningreflectinghealing.com Varient App  https://www.varientapp.com/ Once Upon a Gene TV https://www.thedisordercollection.com/ ONCE UPON A GENE - EPISODE 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman https://effieparks.com/podcast/episode-114-noah-siedman National Society of Genetic Counselors nsgc.org TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene

Decision Vision Episode 167: Should I Apply for Grants? – An Interview with Jill Wood, Phoenix Nest, Inc. Jill Wood, Co-Founder and CEO of Phoenix Nest, Inc., and Co-Founder of Jonah’s Just Begun- Foundation to Cure Sanfilippo, Inc., gave an overview of the process of applying for grants. She and her husband started the foundation […] The post

Decision Vision Episode 167: Should I Apply for Grants? – An Interview with Jill Wood, Phoenix Nest, Inc. Jill Wood, Co-Founder and CEO of Phoenix Nest, Inc., and Co-Founder of Jonah’s Just Begun- Foundation to Cure Sanfilippo, Inc., gave an overview of the process of applying for grants. She and her husband started the foundation […]

Jennifer is the mother of 7 year old Oliver Kelly. In 2019, Oliver was diagnosed with Sanfilippo Syndrome. Jake and Jennifer sit down and discuss the seriousness of the illness and the great strides being made today for research and awareness.

Have you ever been listening to a podcast and wish you could suggest a question for the interviewer to ask? You know there is something else you want to know but the conversation just seems to miss it. We have and we wanted to try something new to address the issue. Recently, Sanath put out a request to ask him anything with the promise we would answer as many as we could on our show. It was a bit scary, not knowing what we might have signed up for. But a commitment is a commitment. In this episode Sanath address a few of those questions. How to give it your all to help your child with an ultra-rare condition when you don't know where to start? Any treatment for kids with Sanfilippo Syndrome? Can I get access to clinical trials? https://curesanfilippofoundation.org/what-is-sanfilippo/ (https://curesanfilippofoundation.org/what-is-sanfilippo/) Parenting I so hard but parenting a rare disease child is even harder. What can the community do to help? How do you manage emotional and mental toll that comes with raising a rare disease child? These questions gave us a chance to talk about other important issues like risk, access, and the inherent issue of our healthcare and support systems. If you like the “Ask Me Anything” format, watch for future requests for questions.

One of the most painful questions for parents who have suffered from the loss of a child is, “How many kids do you have?” Not because we don't want to share the beautiful stories of our children and their journeys, but because sometimes it can be hard to know just how much to share. In today's episode, I am speaking to Stefanie Boyce, a national speaker, teacher, yoga instructor, and most importantly: an extraordinary mother. Stefanie has taken her story of caregiving and loss and found a way to help parents find beauty and joy in the journey. When her oldest son Jayden was diagnosed with Sanfilippo Syndrome, at just 3 years old, Stefanie and her husband felt their whole world shift from underneath them. Shortly after, they received the devastating news that their newborn baby girl, Brooklyn, had the same rare genetic disorder for which there is no cure. For those that aren't aware, children with Sanfilippo Syndrome develop until around three years old and then slowly become unable to walk, talk, and feed themselves. They shared 11 wonderful years with Jayden and 9 magical years with Brooklyn. Stefanie and her husband welcomed a healthy baby girl (Elliotte) only three years after the diagnosis and had to navigate the difficult journey of caring for typical and terminal children at the same time. Today, she teaches us how to find joy through the pain, cherish the present moment, and handle the complicated feelings attached to this journey. She inspires us to feel our true feelings, ask for help when needed, embrace our fears, and move forward while honoring our pain. Key Takeaways with Stefanie Boyce Navigating difficult diagnoses and how to adapt to a “new normal”. Caring for typical and terminal children in the same house. Guiding children through the loss of a sibling. Allowing faith to guide and inspire you through your journey. Choosing comfort for your terminal children over lengthening their days on Earth. Finding meaning and purpose throughout this journey of loss How to navigate the “end of life” journey and learning to stay present so you only have to suffer when the time has come. Cultivating gratitude in what is and not being afraid of tomorrow. Trusting your gut and intuition as a mother, father, or caregiver. Advocating for non-verbal children. Learning how not to let fear control you. Finding parents that are walking the same journey, unlikely friendships that can become a source of support and a great resource. Dealing with feelings of guilt when you desperately need a break. Realizing that self care is not selfish, but instead is a way that we can care for ourselves so that we show up for others. Controlling how we show up to something that happens, and not trying to control what actually happens. Allowing yourself to feel your grief, and how to turn towards healthy habits like exercise, meditation or yoga to tune into your pain. Never be afraid of saying the names of the kids you lost. While painful, it's definitely worth it. Show Notes: Get Full Access to the Show Notes by visiting: MatteasJoy.org/18 Rate & Review If you enjoyed today's episode of The Joy In The Journey, hit the subscribe button on Apple Podcasts, Spotify, Stitcher, or wherever you listen, so future episodes are automatically downloaded directly to your device. You can also help by providing an honest rating & review over on Apple Podcasts. Reviews go a long way in helping us build awareness so that we can impact even more people. THANK YOU!

 Welcome to the first official episode for BRob Inspired! To kick off the launch of our podcast we sit down with Sara Burroughs and learn all about how her family's world was turned upside down after the diagnosis of their son, Carson, with Sanfilippo Syndrome. Sanfilippo Syndrome is a terminal, neurodegenerative rare disease often called “childhood Alzheimer's”. Tune in for an incredible story of how a family has utilized courage, faith, and perseverance in order overcome this misfortune, and continue to fight every day for a Cure for Carson. You are bound to be inspired.   You can follow the Burrough's family journey on Facebook at: https://www.facebook.com/Cure4Carson To learn more about the disease and donate to the Cure Sanfilippo Foundation visit: https://curesanfilippofoundation.org/what-is-sanfilippo/

PARENTS AS RARE - EPISODE 043 Cowden Syndrome & Male Mental Health - David Ross David Ross is a rare disease leader in men’s mental health. He plans and hosts valuable international support calls focused on men's mental health in the rare disease community. David is also a dad with a rare disease called Cowden Syndrome. EPISODE HIGHLIGHTS How did finding out about your disease shape your relationship with your daughter? I felt I wasn't supportive enough to my mother when she was facing Cowden Syndrome. When I was diagnosed with the same condition after she passed, while I couldn't go back and change how I supported my mother, I could support others. Looking back, I focused a lot on advocacy and my mother’s legacy. I've shifted my focus in the last year to my daughter and myself. My daughter needs more support and we need more time for us, and our relationship has become better because I've recognized and acted on that. When did men's mental health become a focus of your advocacy? Someone brought to my attention that a lot of men in the rare disease community didn't seek support or speak out about what they were going through. As I searched for my voice in the rare disease community, I decided to set up international group meetings for men who need a platform to share what they're going through and get mental health support. What was your experience opening up about your feelings, thoughts and struggles for the first time? After my mother passed away and in wanting to make a difference for myself and others, I felt strongly that I needed to speak out about what I was going through and how I was impacted. It has taken time to learn how to speak up, what to say and what not to say. While it was scary, connecting with others in the community continues to help me and inspires me to get my story out. What is your advice for other parents with a rare disease? Feel the feelings. There are so many feelings and emotions that come with chronic illness and rare disease, and you need to give yourself permission to feel all of them when they arise. Sometimes writing down what you're going through can help to express your feelings. RESOURCES MENTIONED ONCE UPON A GENE - Episode 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman https://effieparks.com/podcast/episode-114-noah-siedman Rare Revolution Magazine, Advice From Rare Dads: Top Tips for Rare Parents https://rare-revolution-wp-images.s3.eu-west-1.amazonaws.com/wp-content/uploads/2021/10/19100033/Top-Tips-from-RARE-Dads-for-RARE-Parents-Final.pdf Rare Disease Male Support Group

This week on Mental Health Moments, Phil chats with Noelle, a mother from Washington state about her son Logan.... Logan is a 14 year old boy with Sanfilippo Syndrome. Noelle explains what the syndrome is, why she launched a TikTok account showing Logan's journey, and most importantly how she handles the fact that Sanfilippo is a degenerative and terminal illness. A powerful conversation with a strong human. January, the start of a new year, can bring high hopes for some. But for others-- it can be a tough month mentally. On this weekend's episode of Millennial Balance, Shaliza and Afua chat with children's charity Chai Lifeline Canada about ways to keep your spirits up, especially as we continue to live with this pandemic.

ONCE UPON A GENE - EPISODE 114 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief. EPISODE HIGHLIGHTS As a sibling under potential pressure to not be a burden, do you still carry those feelings even after Ben's passing? It's hard as a sibling to see everything your parents are facing that's out of your control. As a sibling, there's a need to be on top of your own care and your own emotions. There were no casual complaints in my family growing up. It was either a disaster or business as usual. Filling in that middle space where you have a bad day and want to talk about it didn't exist. We've had to work on that as a family because that's not how we've functioned.  What coping mechanisms help you to write and talk about your experience? I came to the realization that I was going to be emotionally vulnerable, which is uncomfortable. Knowing I would have to talk about my experience and brother, I had to accept it, put it out front, and get really good at talking about it comfortably. I got more comfortable talking about the progression of my brother's disease and my feelings around him, and I used it as a shield.  What would you say to the young person who is living the same life you were living and what questions should people ask that person? The first thing that I would say, and maybe the best thing to ask that person, is about their roles. When do you feel like a sibling? When do you feel like a caregiver? When do you feel like you're an advocate? When do you feel like you are just you? I got stuck in trying to be a lot of those things at once, where the easiest role to ignore was being just me. But everything you push down morphs into something worse. Frustration turns into resentment, fear turns into trepidation, sadness becomes melancholy.  What are the misconceptions people have about death? The biggest problem with grief is that no amount of experience is applicable. It defies the ability to be prepared for it or to use your past to help you cope. I don't think grief gets easier, I think you get better at it. Those that try to give advice to people that are grieving are hanging on to the idea that that time will heal. It's not that your grief goes away, it's that you get better at it. How has your relationship with your sister changed? Ben's death brought us closer and we do a good job of communicating despite handling things differently. There's no right or wrong way to navigate life with a sibling who has a genetic disorder, so we don't judge each other and we're honest with each other.  As a parent, how do you help siblings to have a better experience? Abandon the idea that you owe siblings normalcy. My parents put a lot of effort into delivering normal childhood experiences. Instead, put that energy into helping your children articulate what they want. More important than chasing normal is helping siblings decide what's important to them and how to pursue it. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins https://effieparks.com/podcast/episode-109-what-i-know-for-sure CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

This week, Noelle joins the pod to share her experience raising a child with Sanfilippo Syndrome as well as being an incredible mom to two other children, a wife and an inspirational figure.  For more information on Sanfilippo Syndrome please head to: https://curesanfilippofoundation.org To learn more about Logan please follow them on Tik Tok & Instagram at: Love_Logan7 --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app

ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich's Ataxia Kyle was diagnosed with Friedreich's Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben.  Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

As we continue to support and drive awareness for World Sanfilippo Awareness Day, I am so excited to welcome to the show, Dr. Cara O'Neill, Chief Science Officer & Co-Founder of Cure Sanfilippo Foundation.   Dr. Cara O'Neill completed her medical education at West Virginia University School of Medicine and subsequently her Pediatric Residency training at the University of South Carolina. She has worked both in private practice and academic settings. During her tenure as an Assistant Professor of Clinical Pediatrics at the University of South Carolina, she practiced in a clinic specific to children with special healthcare needs. These uniquely-paired career and life experiences allow her to bridge gaps between scientists, clinicians, industry, and families, helping foster patient-centered research and translational paths forward for rare disease treatments.She and her husband founded Cure Sanfilippo Foundation after receiving her daughter's diagnosis in 2013. Since then, they have spread awareness around the globe about Sanfilippo Syndrome via talk shows, news media, online platforms, and international newspapers.   As Chief Science Officer, Cara leads the Foundation's patient-focused research efforts and has presented at international conferences and authored peer-reviewed journal articles. In addition, she collaborates with other non-profit groups on mutual advocacy and research interests, as well as oversees the foundation's funding of external scientific programs.Cara was awarded the international 2020 Patient Advocacy Leader Award by WorldSymposium for her exceptional thought leadership and contributions. Glenn and Cara were awarded the Portraits of Courage Honor by the National Organization of Rare Disorders in 2015, as well as a Tribute to Champions of Hope finalist for Global Genes. In 2017, they received the South Carolina Child Advocate Award from the SC American Academy of Pediatrics.   Listen in as Dr. O'Neill shares their family's personal journey with Sanfilippo Syndrome, key signs parents should watch for, the Mission of the Cure Sanfilippo Foundation and how you can get involved and help spread awareness. #WorldSanfilippoAwarenessDay #CureSanfilippo #Sanfilippo #ACureCantWait

On the latest edition of Living Room Sports Talk - Parisi Coach, Eric Mitchell joins the show! Eric inspires us with conversation around the art of training and positive thought. We learn about Eric's journey through coaching, training, and his motivational speaking.Eric raises awareness of an unfortunate case for Connor as he is suffering from a rare disease, Sanfilippo Syndrome. Please help us raise awareness, donations, and positive thoughts, and hear Connor's story at the link below.https://www.gofundme.com/f/saveconnor?utm

Cara O'Neill was a practicing pediatrician, but after her daughter was diagnosed at age 3 with Sanfilippo syndrome, she turned her attention to driving research into the rare lysosomal storage disorder. Today, O'Neill serves as the chief science officer of Cure Sanfilippo Foundation, an organization she and her husband founded. It has since funded $6.5 million in research through more than 20 scientific projects and clinical trials. We spoke to O'Neill about Sanfilippo syndrome, her journey from physician to advocate, and her efforts to craft a research agenda.

Jennifer Schultz Jones is an ex-pharmaceutical sales rep who left her job to create her own direct sales business! She matched and exceeded her salary 6 months in and is now a top leader at her company. In this episode, she shares how you do not need a professional sales background in order to succeed in direct sales, how there's one secret all salespeople know that you need to know, and how sales pitches do not work.Listen now to learn how to rock your business like a pro!You can find Jennifer at https://www.facebook.com/jennifer.s.jones.526 or https://www.instagram.com/jenniferschultzjones.Recent inspiration: Team member who just left her full time job.Cause she's passionate about: Sanfilippo Syndrome.Best advice she's ever received: "Learn from your failures"

In this episode, CPN’s Jennifer Siedman talks with Grey Chapin, founder of the BLAIR Connection, a digital resource to support siblings as they experience the challenges of having a terminally ill brother or sister. Jennifer is the mother to three – Noah and Isabelle, and their brother Ben, who died in 2014 from Sanfilippo Syndrome. Grey is the younger sister of Blair, who also had Sanfilippo Syndrome and died in 2017.

Jennifer Siedman, Patient Disease Outreach Coordinator at Courageous Parents Network, joins us to talk on the topic of: Anticipatory Grief - grief that occurs before death or grief that comes with feeling or confronting emotions in advance of an event (loved one’s birthday or anniversary of death). Jennifer and her family know this all too well - in 2014 they lost their teenage son, Ben, to Sanfilippo Syndrome. Since that time, Jennifer has devoted herself to support, guide and strengthen families as they care for a seriously ill child. Jennifer welcomes families in similar situations to reach out to her at: jennifer@courageousparentsnetwork.org Courageous Parents Network can be found online at: www.courageousparentsnetwork.org/ Find Two Rare Mama Bears on Facebook, Instagram & Twitter: 2raremamabears

You’re a mother, and life is typical. You’re also a pediatrician. Then one day you hear that your daughter is autistic. OK. Then you get the news that, no, it’s not autism but a very rare disease called Sanfilippo Syndrome. From your training as a pediatrician you quickly think back and remember the MPS rare diseases, but nothing else prepares you for what’s ahead.

David Jenkins wants to help you learn about investing. But he doesn't want any compensation. David wants you to pay it forward. If you learn something from his website, he wants you to make a donation to charity instead. David's charity of choice is the Sanfilippo Children's Research Foundation which was created to help find a cure for Sanfilippo Syndrome, a degenerative and terminal genetic disorder that affects children. To try to simplify the complex world of investing, David created a website called theansweris.ca. It's a financial education website that provides step-by-step instructions for a Model Long-Term Investment Portfolio containing six low-cost ETFs that are well-diversified both geographically, and more importantly, by economic sector. But David doesn't want you to just jump right in - he wants to make sure you understand the service he's providing - and therefore he made it so that you have to complete a 6 question quiz before you proceed. Especially if you are new to investing, it can be dangerous to follow David's 100% equity model ETF portfolio if you don't fully understand that he wants you to buy and hold for at least 10 years. It's also important to understand that the information that he provides is purely educational and is just one option for investing your money. David is a self-taught investor and is simply using this website to convey what he's learned to whoever wants to listen. Similar to what I would do as a personal finance coach, David is simply interested in providing you with information to help you make the right decisions for you. Please be sure to read all the disclaimers on theansweris.ca when you check it out. David joined me in the studio earlier this year to share his personal finance story. NEXT EPISODE 53 - Darlene Patgunarajah

When Glenn O'Neill's beautiful daughter, Eliza, was diagnosed with Sanfilippo Syndrome at the young age of 4, he and his wife were devastated. They discovered that there was a gene therapy trial that had been underway for over a decade that might help Eliza, but no funding available for a clinical trial. So, he launched a campaign to raise the money himself, with a goal that seemed nearly impossible: 2.5 million dollars

Jen and Samir Sarkar, creators of "Carters Challenge," go into detail on their quest for a cure for Sanfilippo Syndrome, how they have dealt with learning their son Carter has this terminal disease, and how their perseverance can inspire many other parents and families out there dealing with tragedy.