 Erica McKenzie and Kristen Ulrich - two Sanfilippo moms - are the admins (and co-founders) of the private (but publicly searchable) Facebook support/chat group called "Does my child have Sanfilippo syndrome?". Along with Josephine Shamaly (who originally came up with the idea), the two women started the page earlier this year as a resource intended for anyone out there who has concerns that their child might have Sanfilippo Syndrome - a disease which has in recent years garnered greater attention and awareness due to the power of social media (and brave parents). Here they tell us the story of how the page came to be - and why they're determined to help other parents out there find answers and perhaps even a new support system along their own journeys. First, let's meet the two moms. They introduce themselves here (1 minute clip): Next, check out this clip of Erica, explaining how the group came to be and how it's managed and administered on a daily basis: We were getting requests constantly (in our Sanfilippo parents group) from concerned parents out there who thought their child might have Sanfilippo Syndrome. It was becoming overwhelming, and one day Josephine (Shamaly) came to me and asked, 'what do you think about starting a new group?'. And I said, 'let's give it a shot'." - Erica McKenzie (from GA), Sanfilippo mom to daughter Reagan Now let's hear from Christin, who explains that there's much more to Sanfilippo Syndrome than just the bushy eye brows... It's not just about the unique facial features, but the symptoms too" - Christin Ulrich (from Florida), Sanfilippo mom to daughter Veda None of these moms are medical doctors - and they make that loud and clear on the site - but they do all work in the healthcare space. Hear them talk about that experience and why it's helpful in their role as admins for the 'Does My Child Have Sanfilippo?' page... The three of us all have professional backgrounds in the healthcare sector and have worked directly with doctors in those roles as well" - Erica McKenzie To watch the full interview, click below:
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 “What I quickly became aware of as I reached out for support and advocacy groups in the rare disease space, was that there were all these incredible female advocates—patients, mothers, caregivers—but there seemed to be hardly any guys in that space. Sadly, a lot of men tend to suffer in silence, because they’re afraid to share what they’re going through with others. There’s a fear of the societal stigma toward men who share the difficult challenges they’re going through. Even a sense of shame. As a result, men just aren’t being heard.” ~ Men's rare disease/mental health advocate, Dave Ross Dave Ross is a 49-year old British man (and father) living with a rare disease called Cowden Syndrome, which is inherited in an autosomal dominant pattern. This means that one copy of the altered gene in each cell is sufficient to cause the condition. Cowden is an inherited condition, occurring in roughly 1 out of every 200,000 people; Dave inherited the Cowden mutation from his mother, who sadly lost her life to the disease before she turned 60. You're probably wondering, 'What the heck is Cowden Syndrome?' According to the National Cancer Institute, people with Cowden syndrome have an increased risk of developing certain types of cancer, including melanoma and cancers of the breast, thyroid, endometrium, kidney, colon and rectum. People with Cowden usually have a large head (macrocephaly), benign tumors of the hair follicle (trichilemmomas) and white papules with a smooth surface in the mouth (papillomatous papules)—which usually start to appear by a patient's late 20s. For more about the disease, click here. Receiving the diagnosis of any rare disease, let alone a potentially painful and life-shortening one like Cowden, can be not only devastating and frightening, but it can also trigger a feeling of suffocating loneliness for those diagnosed (and their families). After all, the everyday people in our lives—despite meaning well and caring very much—simply can’t relate, empathize or ‘get it’ quite the same way as those in the exact (or at least quite similar) situation. And that’s why it’s so important for all of us that are traveling along a rare disease journey to find one another and come together, so that we don’t feel quite so alone. Dave insists that this is especially important for men, who are more likely than women to “suffer in silence.” Shortly after his diagnosis and early in the process of finding himself a rare-disease support community, Dave quickly became aware of the incredible number of courageous and outspoken women (moms, patients, etc.) doing the advocacy and public speaking about their rare disease journeys and all of the emotional and psychological messiness that comes with it. Dave felt that something was missing from these conversations—especially for the men—and he was determined to be part of fixing that problem. In many segments of our society—globally—it’s just not that acceptable and ‘manly’ for men to talk about this sort of scary and/or mushy stuff with other men. We are supposed to be strong and resilient and able to figure our own ways out of problems, not lean on others to help us deal with them. But it’s not just women or moms that need a safe and familiar place to share their journeys, thoughts, feelings and fears. Men and dads need that too. And sadly, too many men don’t have that. And as a result, we often feel “unseen” and misunderstood. In 2020, Dave took action. He created a men’s mental health awareness group to provide men like himself with that safe and inclusive place to feel a little less alone in their rare disease journeys. The group now meets on a bi-weekly basis via Zoom, which allows participants to tune in from countries all across the globe and hear from all different perspectives and points of view. Some of the men who attend the sessions are fathers, but not all of them. The one commonality, though, is that their lives are all affected by a rare disease that affects either themselves or a close family member. In our conversation, Dave mentioned to me that he is a big fan of podcasts, and he has a few favorites in the ‘rare disease’ genre that he recommends and wanted to share. The first is Once Upon a Gene, hosted by Effie Parks. Click here to check out the website. The other is Two Disabled Dudes—Life Beyond Circumstances (hosted by ‘the dudes’, Kyle Bryant and Sean Baumstark). To check that one out, click here. Below you’ll find a few highlight clips (1-2 minutes in length) from an interview I had with Dave in March 2024. Further below those clips you will find the full discussion (17 minutes in length). We touched upon a range of topics—everything from fear and loneliness, to masculine and cultural norms, to meaning-of-life stuff, and even soccer. I hope you enjoy the conversation as much as I did. "What I became quickly aware of was that there were so many amazing female advocates out there - whether it be patients or caregivers - all across the rare disease space. But there seemed to be hardly any guys raising awareness and talking about their rare diseases. And from conversations I began having with other men, it became clear to me that too many men are suffering in silence. And so I thought to myself, 'What is it I could do for our community to fill a need that nobody else was doing?' Then in 2020, I set up a men's support group, through Zoom. It's a safe place for men to share what's on their mind" - Rare disease and men's mental health advocate Dave Ross Ever since my son Connor was diagnosed with Sanfilippo Syndrome (aka Childhood Alzheimers) in 2019, I have been seeing a therapist pretty regularly to help me with my mental well being. And I've learned along the way that as I continue to mentally shed and remove those unwarranted layers of shame that I felt early on, it has made me feel a lot more free and open about talking about feelings and fears and other scary stuff like that" - Sanfilippo dad and Sanfilippo Project founder Mike Dobbyn We may all be from different countries, continents and cultures, but the truth is our commonalities far outweigh our differences. And we can all learn from one another" - Rare disease men's mental health advocate Dave Ross, on why it's important for men to seek support from other when when faced with challenges Click BELOW to see the full interview (16 minutes) with Dave Ross... We find out that we have a lot more in common than our differences. This has become a safe space for us to talk about what we’re going through, share our experiences, and create an environment in which we feel a little less alone in our journeys” - Dave Ross  Jeremy Mask with his mom Dorothy Growing up as a little kid, Jeremy Mask never looked at his older brother Ryan as being "different". He just knew him as his brother - and his best friend as well. The Pennsylvania native - a nine-year U.S. military officer and recent police academy graduate - lost his brother to Sanfilippo Syndrome (aka, childhood Alzheimer's) 16 years ago, but Jeremy continues to honor and build upon Ryan's legacy in various ways - by mentoring other rare-disease and Sanfilippo siblings with navigating their own journeys; traveling to MPS conferences to soak in the love and affection of other Sanfilippo kids (his own way of feeling reconnected with his own brother); and even babysitting, entertaining and playing with them while in town - to give some of the parents some well-deserved (kids-free) time to themselves for a change, even if just for a few hours. In addition to that, Jeremy and his mom Dorothy have been hosting/organizing the "Concert for a Cure" event in their hometown for many years now. After all, Jeremy said, that's what Ryan loved - listening to music. Concert for the Cure is an annual, all-day concert featuring 4-5 local bands, where all money raised goes to the fight against Sanfilippo Syndrome (specifically, to the National MPS Foundation, a nonprofit 501c3). But it's also been a place where Sanfilippo families from across the area have an opportunity to get together, meet one another, share stories, and just feel a little less alone in their journeys - all while enjoying great music - which is exactly the way big brother Ryan would have wanted to it. In the clip below, Jeremy talks about starting the Concert for a Cure (to raise money and awareness for Sanfilippo Syndrome), and why he continues to stay connected to the Sanfilippo community. One thing my brother always enjoyed throughout his entire life, regardless of what condition he was in, was listening to music."  Jeremy with older brother Ryan as young kids To see the full (10-minute) interview with Jeremy, click below: My "team" is my family. They've always been my biggest allies in life".  Jeremy and his family hosting the annual Concert for the Cure to MPS in Pennsylvania  Jeremy and Ryan enjoyed coloring Easter eggs together  "The mold problem just wasn’t being addressed properly. So I eventually reached out to a military housing advocacy group that was assisting other families", the Washington (state) mother of 3 explained. "This group ended up helping me get my problem resolved. I was so thankful. And, so, this became my way to pay it forward to other military families with housing needs”.' What Noelle Pacl didn't know at the time was that the skills and self confidence that she was developing in her unexpected, outside-of-her-comfort-zone leadership role as a military housing advocate would later help her to reach millions of people across the world and teach them about her son Logan's disease, Sanfilippo Syndrome.  The Pacl family, Christmas 2023 Did you know that Noelle Pacl was born and raised in Germany? True story. In fact, she lives there the first nine years of her life, and she was fortunate enough to be able to travel all over Europe during that time. That's because her father was a U.S. army officer, and the family went wherever he was called upon to serve for his country. Fast forward to the current day - Noelle is married to a Naval officer, Billy, whom she's known since high school (in Texas). Noelle and Billy (currently on 'shore' duty) have three wonderful kids that mean the world to them - older daughter Aidyn, and (fraternal) twin boys Austin and Logan. And just like the Army life that Noelle had grown accustomed to during her childhood, the Navy life is one in which you’re always on the move as well, from one naval base to the next - always a challenging transition for any family, let alone for one with a child that has severe special needs. THE DIAGNOSIS THAT CHANGED EVERYTHING Noelle's son Logan (16 years old) was diagnosed with Sanfilippo Syndrome at the very young age of 2. “I give most of the credit to Logan’s pediatrician, who was very persistent”, Noelle told said. “But the key reason we were able to see the red flags so clearly (and early) was because we were able to compare Logan to his twin brother Austin - who was walking and talking at the time, and without any of the GI medical issues that Logan was suffering from”. Shortly after Logan’s diagnosis, he was able to participate in a cord-blood transfusion clinical trial at Duke University in Durham, North Carolina. This wasn’t a “cure”, and the Pacl parents knew that going into it. And, yes, there were also (significant) physical/medical health risks associated with going through the cord-blood transfusion process alone (chemo, risk of infections, all sorts of scary possibilities). But there was also a shot at perhaps a slightly better quality of life going forward - and that matters too. Raising a medically fragile child with a terminal and life-shortening condition like Sanfilippo Syndrome (with no cure or treatment at this time) forces every family to make difficult and sometimes harrowing decisions. Fortunately Logan survived the process in good physical shape. And to this day, Noelle and her husband firmly believe that the decision (over a decade ago) to go through with the cord-blood transfusion has been a positive and beneficial decision for their son Logan. As Noelle, Billy and her their three kids bounced around from one naval base to the next, there were a lot of challenges along the way. Moving and relocating from one government-provided home to another - with new neighbors and communities each time - is exhausting, both physically and mentally. Furthermore, Billy was often out at sea on naval duty - sometimes for 2-3 years at a time - so a lot of the daily tasks of navigating the Navy spouse (and family) life fell on Noelle herself to figure it out during those periods when he's at sea... And that’s what led to her advocacy work in military housing for other military families like hers. BECOMING AN ADVOCATE “It actually all started with mold”, Noelle told me. “We had a mold problem in our home, and it just wasn’t being addressed properly (by the government agency responsible for it). In fact, it wasn't being addressed at all. So I reached out to an advocacy group that was assisting other military families with privatized housing, and they ended up helping me get my problem resolved. I was so thankful. And, so, this is my way to pay it forward to other military families with housing needs”. Noelle and a few other Navy moms started up a 501c3 called Armed Forces Housing Advocates (AFHA) in 2018, and the group continues to make a positive impact every day for military families. Noelle's focus and area of expertise within the organization is advocating for the housing/accomodation needs of families with family members with special needs and/or mobility issues. See this link to learn more Noelle's organization: https://afhousingadvocates.org/. FROM MILITARY HOUSING ADVOCATE TO SANFILIPPO AWARENESS TIKTOK STAR - "Fake it 'til you become it" Along the way - in her (volunteer) role as a military housing advocate - even meeting with legislators in Washington D.C. on a fairly regular basis (to effect legislative change) - Noelle’s self-confidence grew. She noticed that her hands (and voice) no longer trembled when, say, a reporter from the Military Times would approach her to ask her about a piece of legislation she and her group were advocating for. And it’s that very willingness to go through that difficult and sometimes scary process - to toughen her skin and improve her own skills and poise each time - that ultimately has guided Noelle in her TikTok/advocacy efforts and fundraising campaigns for Sanfilippo Syndrome and her son Logan. Noelle also happens to be an incredibly effective communicator and explainer of complex and even emotionally-charged topics of all sorts, which is why she has amassed a TikTok following of 3 million people - and has taught literally millions of people across the world that a horrible disease called Sanfilippo Syndrome (aka childhood Alzheimer’s) even exists. A few fun facts about Noelle -- Favorite band: Red Hot Chilli Peppers. Favorite movie: Kill Bill. If she had one weekend to herself, able to go anywhere in the world, what would she choose to do?: "I would want to be back in Germany exploring castles". To follow Noelle and her son Logan on TikTok, go to https://www.tiktok.com/@love_logan07. What is Sanfilippo Syndrome? Noelle explains here: www.tiktok.com/@love_logan07/video/7311444552458587435?_r=1&_t=8ilfyLmwUm2 "Whatever will be, will be": https://www.tiktok.com/t/ZT8XWQogg/ Much more to come with Noelle in the weeks and months to come (stay tuned), and we're very excited that she will be leaning into the Sanfilippo Project with us to help contribute her very important (and far reaching) voice to drive awareness and change - and to help us reach and grow new audiences. Check out the interview clip below, from our interview in December 2023, where Noelle talks about her unexpected journey from housing advocate to accidental TikTok star. And further below - at the bottom of this post - you can find the full interview. Check it out. You're really going to enjoy this one. Last but not least... Noelle - On behalf of the entire Sanfilippo community, we THANK YOU for your incredible contributions to our community (and the rare disease world at large) and the tremendous impact you and your courageous son Logan have already brought to the world. Being unexpectedly thrust into my role as a military housing advocate - and going up against some very big organizations and companies in the process - ultimately gave me the confidence to start raising awareness for Sanfilippo Syndrome on TikTok."  Sanfilippo legend Logan Pacl (type A, 16 years old) waits patiently (and joyfully) at a recent doctor visit  Noelle is the proud wife to Navy Lieutenant William Pacl  DYNAMIC DUO - Noelle and Logan having a few laughs in a corn field To watch the FULL (29 minute) interview with Noelle Pacl, click below:  His training philosophy as a strength and conditioning coach centers around character development as a core principle - an approach that happens to lend itself well to community advocacy and fundraising as an avenue and outlet for personal growth (all while getting an incredible workout at the same time). That’s why Eric Mitchell just knew, immediately, that he had to step in and help out when he heard about Connor Dobbyn and his plight with Sanfilippo Syndrome. Pennsylvania resident Eric Mitchell has been a strength and conditioning coach for over 30 years, having worked with many high-level amateur and professional athletes along the way. His training philosophy and mentality as both a coach and community leader were shaped in large part by two early mentors in his coaching career - Bill Parisi (founder of Parisi Speed School) and Martin Rooney (founder of Training For Warriors, or TFW). Both men were early proponents of a coaching approach that centers around character development, and developing the athlete both physically and mentally. Eric had found his passion, and he never looked back. The special needs community has always occupied a big place in Eric's heart. His mother Norma was a special needs teacher for 47 years at the highly acclaimed Vanguard School in Malvern PA, and his own son Cole has had some pretty harrowing developmental challenges along his childhood. Helping others in the community that are in need, for Eric, is more than just an option. For him it's a moral obligation. And that 'pay it forward' attitude is contagious - not just within his TFW gym, but within the community as well.
  Stacey Montgomery is the mother of Lucas (Sanfilippo Syndrome, type B), who passed away in 2018 just prior to his 21st birthday. She lives in Cedar Rapids, Iowa, and is a board member with the National MPS Society. Stacey and her family continue to share Lucas's story with others in the hopes of raising further awareness about the disease, as well as passing along her knowledge and experiences to other parents who now walk along a similar journey. Stacey is an inspiration and source of light to many in the Sanfilippo- and rare disease communities.  His story, and all of our stories… There’s a reason" To view the full conversation (April 2022), click here: "It's a family that nobody CHOOSES to be part of, BUT IT'S ONE YOU'RE GLAD TO HAVE IN YOUR CORNER"11/13/2023 Delaware dad Carl's two oldest sons were born with Sanfilippo Syndrome, aka Childhood Alzheimer's. In this clip, Carl reflects upon his own journey as a Sanfilippo father and the importance of connecting with other families in similar shoes. "It's a family that nobody chooses to be part of, but once you meet other folks going through exactly what you're going through, it's a family that you're glad to have in your corner", he says.  It's a family that nobody chooses to be part of, but once you meet other folks going through exactly what you're going through, it's a family that you're glad to have in your corner" Former Iowa star running back Lew Montgomery talks about "finding the proper platform" to advocate and fundraise for his son Lucas and the fight against Sanfilippo Syndrome.
Lew Montgomery was a star running back at University of Iowa back in his day, and still a well-known and respected public figure in the state of Iowa today. He's also the father of a son (Lucas) who passed away from Sanfilippo Syndrome several years ago. In this clip, Lew talks about finding his platform to advocate for Lucas after receiving his diagnosis. Lew and his wife Stacey honor Lucas's fighting spirit and build upon his legacy by continuing to advocate for a cure for Sanfilippo Syndrome and sharing their experiences with other parents coming after them. For me, it was leveraging my athletic career at the University of Iowa to make an impact" |
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Mike Dobbyn, Archives
August 2024
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