 Kelly Wallis's religious faith has always played a very big role in her and her family's lives. It's been one of her pillars of comfort and reliability along the otherwise tumultuous and uncertain Sanfilippo (and cancer) journey that she finds herself on. Which is why it saddens her deeply that oldest daughter Abby (now 28, with Sanfilippo Syndrome type A) is no longer able to attend church services anymore - because of the ravaging effects that Sanfilippo Syndrome has had on her mind and body over the course of her life. "The sad thing is that the people at church don't even know Abby anymore".  Kelly Wallis of Houston, Texas, is the loving mother of 2 (now fully grown) daughters -- Abby (age 28, diagnosed with Sanfilippo type A (attenuated) at age 22), and younger sister Emily (25), who is now a 1st grade teacher in Texas. Kelly is the (longtime) organist at her church in Houston, and she told me that she finds great personal meaning, purpose and satisfaction in playing the support/ background role that she plays in her church's choir. After all, she's not somebody who likes to be in the front and center, and she doesn't seek credit for her actions - she just wants to be part of something bigger than herself - for the common good - and her church community and religious faith clearly help provide that for her and her family. Following Abby's Sanfilippo diagnosis several years ago, Kelly and her family created a fundraising/awareness campaign called Abby's Alliance (in partnership with the Cure Sanfilippo Foundation, a 501(c)3 non-profit dedicated to funding therapies and clinical trials for children with Sanfilippo Syndrome). And then in 2019, Kelly became a monthly contributing columnist for an online magazine called Sanfilippo News (under the BioNews brand), in which she writes openly and (sometimes brutally) honestly about the Sanfilippo/rare disease life based on her family's own experiences along this journey. It takes courage to put yourself out there like that and share your story with the world, but Kelly has learned that it's also an empowering and therapeutic way to "let it all out" and share your story with the world - and other parents who read her articles are grateful for her giving public voice to their own trials, tribulations, fears and stories. Here's a link to Kelly's most recent column: https://sanfilipponews.com/columns/how-were-honoring-gift-from-sanfilippo-child-her-family/. Kelly herself has had more than her fair share of obstacles and health challenges over the past 7 years - having been diagnosed in 2015 with cancer (which later metastasized in her lungs), followed by the ultimate vicious blow the very next year (2016) when her daughter Abby was diagnosed with Sanfilippo Syndrome at the age of 22. Talk about a one-two punch. But Kelly refuses to "live in a cancer bubble", as she told me. There's too much life to live, and too much to be grateful for. Kelly's religious faith has always played a very big role in her and her family's lives. It's one of her pillars of comfort and reliability along this otherwise tumultuous Sanfilippo (and cancer) journey that she finds herself on. But even though her church has been so pivotal and such an important part of her life, it now saddens her deeply that Abby (now 28) is no longer able to attend church services anymore - because of the ravaging effects that Sanfilippo Syndrome has had on her mind and body over the course of her life. "One of the saddest things is that the people at church don't even know Abby anymore", Kelly heartbreakingly explained to me. "These days, she can be very noisy and disruptive during services, and I do not want her to distract from the service for everybody else - which is why we felt like we could no longer take her with us. But I still have to be there, regardless, because I'm the organist". Click the link below to watch Kelly tell it. The sad thing is that the people at church don't even know Abby anymore. These days, at age 28, she can be very noisy and disruptive during services, and I don't want her to distract from the service for everybody else - which, sadly, is why we felt like we could no longer take her with us. But I still have to be there, regardless, because I'm the organist" To watch the full interview (25 minutes) with Kelly, click the link below:
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 Sanfilippo mom Perriann feels fortunate to reside in the state of California because of a work-from-home program ('IHSS') available to California residents that is intended for parents and caretakers of children with severe special needs. This program has allowed Perriann the gift of being able to watch her daughter Reyna grow (and change) during these precious and pivotal years.  Perriann Nieto lives in Riverside, California - with husband Armando (a flooring specialist) and their six (combined) children - about 50 miles southeast of downtown Los Angeles. Perriann's 8-year old daughter Reyna has Sanfilippo Syndrome (type A) - a neurodegenerative condition commonly referred to as "childhood Alzheimers" (only worse). Perriann's got a lot on her plate these days, with her daughter's seemingly never-ending slew of medical challenges (related to the disease) which are wreaking havoc on Reyna's mind and body. It's hard enough in today's world to raise and provide for a 'typical' family - never mind for a family raising a child with a relentless and debilitating disease like Sanfilippo Syndrome. In fact, here's an interesting (and depressing) piece of information -- A recent research study on the topic of financial stress on special needs families found that the average Sanfilippo family will suffer a cumulative 'dent' to their financial Net Worth somewhere in the range of $1 million (net 'hit' to net worth) over their lifetimes - all because one or more their children happened to hit the genetic sh*t lottery (1 in 75,000 odds) upon conception. That's a pretty darn big dent. During our conversation, Perriann told me about a work program that's available in her state (California) which allows parents/caregivers of severely disabled children/family members to stay home and get paid as a primary caretakers - in her case, for her daughter Reyna. It's a program called IHSS, which stands for In-Home Support Services - and it's been a godsend to the Nieto family. As Perriann stated, "It has been a big relief for me and my family - because it's allowed me to stay home, watch Reyna grow during these precious years, and not have to worry about somebody else needing to take care of her for me". According to Perriann, there aren't many (if any) other such programs out there in other states - at least not any that are nearly as generous and supportive as the one available in the state of California. In fact, that ended up becoming the deciding factor recently when Perriann and Armando were considering a move to another state. There simply wasn't anything out there (in other nearby states) that would replace it, income-wise, for a stay-at-home caretaker mom in Perriann's shoes. The family had no choice but to stay put in California. Following our conversation, I was eager to learn more about this IHSS program. Here's the website for IHSS, for those interested in learning more: https://www.cdss.ca.gov/in-home-supportive-services. And here are a few tidbits of information that is straight from the IHSS website: "The IHSS program provides in-home assistance to eligible aged, blind, and disabled individuals as an alternative to out-of-home care and enables recipients to remain safely in their own homes". Also from the website --- Eligibility criteria for all IHSS applicants and recipients include the following: 1) You must also be a California resident. 2) You must have a Medi-Cal eligibility determination. 3) You must live at home or an abode of your own choosing (acute care hospital, long-term care facilities, and licensed community care facilities are not considered "own home"). 4) You must submit a completed Health Care Certification form. It has been a big relief for me and my family - because it's allowed me to stay home, watch Reyna grow during these precious years, and not have to worry about somebody else needing to take care of her for me"   Tennesse Sanfilippo cop dad Shaun O'Neal, inspired by his son Kiernan's courageous battle with Sanfilippo Syndrome, started up a brand new task force within his police department to help educate and mentor his fellow law enforcement officers about the best way to approach citizens that may have special needs - with empathy, understanding, patience and an open mind.  Tennessee native Shaun O'Neal is the proud father to 4 kids and clearly a happily married man (to wife Amanda), with a contagious gratitude for life and a 'never quit' attitude that has served him well in life - particularly in times of stress, anxiety and even fear. Shaun's dedicated, 23-year career as a law enforcement officer in his community has shaped the man that he is today - and he's used many of those qualities, lessons and acquired skills to help his son Kiernan (8 years old) and his family of 6 battle Sanfilippo Syndrome. He's also an impact maker in his community - even heading up and leading a task force at his police department that is focused on helping officers recognize and properly handle situations arising from community members that may have special needs. After all, many of these individuals perhaps don't even understand that what they're doing is even 'wrong'. Inspired by his son's Sanfilippo journey, Shaun is creating positive change every day in his community. This wouldn't have happened without his Kiernan's shining light guiding the way. I asked Shaun about how he and his wife Amanda function as a team when it comes to tackling and navigating the Sanfilippo Life with their 4 children. He told me that Amanda is the researcher - she wants to understand every single, minute detail about everything. He told me - and she agrees - that it's because "At least doing the research gives her the illusion of control" - which, as many of us know and have experienced during our Sanfilippo journeys, becomes somewhat of a psychological need when your life gets suddenly thrown into chaos, uncertainty and fear. "As for me", Shaun stated, "I'm really, really good at mentally compartmentalizing - and, mind you, that's not always a good thing - but it's just the way I handle things". He went on to tell me, "I don't think about the long term often - and I never quit. I never throw in the towel". Click the video link below to hear Shaun tell it. I don't think about the long term often, and I never quit. I never throw in the towel" 
 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/. 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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