 Nicole Bell was a high school classmate of mine (one year ahead) way back in the day, at Canton High School (Canton, MA). We unexpectedly reconnected a couple years ago when I found out that she had written a book - titled 'What Lurks In the Woods' - which documents her family's journey through the medical minefield as she searched for answers and treatments to her husband Russ's mysterious early-onset dementia. In fact, the root cause ended up being lyme disease. And what a long, hard and frustrating journey it was to even get that diagnosis in the first place. The problem with diagnosing Lyme disease, Nicole explained, is that the most widely prevalent testing regime at this time happens to be antibody testing - which results in a 35-51% chance of testing negative even when positive for the disease. And this is simply unacceptable, particularly given that early (and accurate) detection and diagnosis of lyme disease is crucial for treating it. Nicole has since made it part of her mission going forward to help fix this problem, and she's now on the front lines in the effort to do so. Many of the lessons that Nicole has learned along her journey are applicable to other rare disease journeys and diagnostic odysseys that so many families across the world have experienced, which is why I wanted to speak with her. In the clip below, Nicole talks about the process of writing the book and her hope to inspire people who are suffering from chronic, symptom-based illnesses to dig deeper - so that they can find and treat the root causes of their disease before it’s too late. To learn more about Nicole, her book, and other projects of hers at this time, visit: https://www.nicoledaniellebell.com/.
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former iowa football star lew montgomery shares his son lucas' courageous sanfilippo journey11/26/2023
 We as a family have focused on moving forward with him, rather than moving on without him"  An Ohio mom shares her story and talks about her son Oliver’s journey from his Sanfilippo Syndrome (type B) diagnosis at age 4, to his participation in a gene therapy clinical trial at age 5, and an update on how Oliver’s doing today. Jennifer’s son Oliver was diagnosed with Sanfilippo Syndrome type B at the age of 4. By age 5, Oliver was fortunate enough to be able to participate in a gene therapy clinical trial (specific to Sanfilippo type B) that was taking place a mere 4 miles from their home in Columbus, Ohio. This was at the height of COVID, mind you, so that added convenience of being so close by to the facility was perhaps the pivotal factor in Oliver’s participation. She describes Oliver as a “destructively happy kid” - which obviously made the process of actually getting accepted into the trial a particularly arduous and mentally/physically exhausting experience at the time. In the following brief (3 minute) clip, Jennifer introduces herself and shares her family’s experience in navigating the terrain of their new Sanfilippo world from diagnosis until now. Sanfilippo mom Val discovered that writing a monthly column for an online magazine is not only a powerful and therapeutic way to reflect on her own journey, but it's helped other families feel less alone in their rare disease journeys as well.  Sanfilippo mom Val Byers, EdD, is an education researcher living in Spring, Texas, with her husband, Tim, and their two children, Will and Samantha. Valerie became a rare disease advocate in 2015 following Will’s diagnosis of Sanfilippo Syndrome, a degenerative and fatal genetic disorder. Val is a board member of the Cure Sanfilippo Foundation, where she works to raise the public profile of Sanfilippo syndrome to support research and clinical trials. She also writes a monthly column for Sanfilippo News, called “Plot Twist,” where she reflects upon her family's journey in the hopes of making other readers feel less alone in their own respective journeys. To see Val's columns, click here: https://sanfilipponews.com/plot-twist-valerie-byers/. To learn more about the Cure Sanfilippo Foundation, click here: www.curesff.org. In this clip, Val shares her story of how she got involved with writing. It was a beautiful avenue for me to reflect on our journey" Washington state mom Taci discovered a spicy and fun way to leverage TikTok as a powerful platform for teaching her followers about her son's disease, Sanfilippo Syndrome (type B).  "I started with the Dirty Sign Language videos because people were intrigued by the 'F*** MPS' tattoo on my finger!" - Sanfilippo mom Taci Lynn Belisle (from Washington state), on stumbling upon TikTok as a platform to advocate for son Ryder. Taci now has 1 million followers on the platform and has helped bring awareness to so many people around the world about Ryder's condition. Click here to follow Taci on TikTok: https://www.tiktok.com/@taci.lynn Click below to see Taci talking about how she started doing TikTok videos to raise awareness for Sanfilippo Syndrome and her son Ryder. I started with the Dirty Sign Language videos because people were intrigued by the 'F*** MPS' tattoo on my finger" An Ohio Sanfilippo family found a clinical trial for their son Oliver that just so happened to be a few miles from their home. Other families aren't so lucky to have this convenience. Oliver's mom Jennifer explains.
Lots of rare disease families face a rough road getting their kids into a clinical trial that could save or improve their lives, and getting accepted into the trial is only the beginning of the challenges. Many families need to travel far distances - and separate from other family members for extended lengths of time - to ensure that their child can be treated (generally these trials occur at a single location). Jennifer's son Oliver was relatively lucky, because they only live a few miles from the site of Oliver's clinical trial (for Sanfilippo type B) in Ohio. Jennifer talks about that experience with us here. It's a significant burden for a lot of families." Jill Wood was living a normal Brooklyn life, working in the fashion industry... until her 2-year old son Jonah was diagnosed with Sanfilippo Syndrome (type C). She then dropped everything and started a biotech (Phoenix Nest) to help solve Sanfilippo Syndrome type C, in the hopes of one day saving lives - including her son's. Jill Wood was the name that kept popping up when I started talking to organizations and foundations shortly after my son Connor was diagnosed with Sanfilippo Syndrome (type C) back in 2019. Not only did Jill live relatively close by (she's in Brooklyn, I'm in suburban Philly), but she also happened to have a son with the exact same Sanfilippo 'type' (C), and therefore - in theory - we have kids seeking that exact same cure. I met Jill one day for coffee in Brooklyn - my first time meeting a fellow Sanfilippo parent in the flesh - and I ended up staying in Brooklyn the next two days to learn from Jill and begin the process of navigating my own way into this strange new Sanfilippo world that I was thrust into following Connor's diagnosis in early 2019. Jill is an inspirational trailblazer in the Sanfilippo world, having dropped her career in fashion 13 years ago to spring into action in the hopes of one day discovering a cure for her son Jonah. In the process, Jill founded Phoenix Nest, a bespoke biotech focused on treating the ultra-rare disease Sanfilippo syndrome. To learn more about Phoenix Nest, click here: https://www.phoenixnestbiotech.com/ Here's a 2.5-minute summary compilation of our conversation with Jill (back in January 2023) We asked the neurologist, 'Is this a death sentence?'. She replied, 'It doesn't have to be'. And that was all that I needed to hear" Click here for the full (22 minute) conversation: |
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Mike Dobbyn, Archives
June 2024
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