"Is where we're born going to be the difference between whether we can save our children or not?"

​That question has stayed with me since my recent conversation with Tammy McDaid, a mother from Swansea, Wales, whose five-year-old son, Tate, has Sanfilippo syndrome Type A.  I've spoken with many Sanfilippo parents over the years. Although our children may have different types of the disease and our families live in different parts of the world, we share many of the same challenges.

But Tammy's story brings another issue into focus: What happens when a potentially life-changing treatment becomes available in one country, while families in other countries are left wondering how—or whether—they can access it?   For Tammy and Tate, that's no longer a hypothetical question.
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Meet Tate

Tate is an energetic, happy little boy who loves being on the move. He's autistic, nonverbal, and needs considerable assistance with everyday activities, but he's mobile, active, and enjoying life.It's just Tammy and Tate at home, and she describes their relationship with the kind of affection that any parent can appreciate. But there's something weighing heavily on her mind.

Tate turns six in November, and unlike most parents who eagerly anticipate their child's next birthday, Tammy is frightened by what the coming year might bring.

Sanfilippo Syndrome is a rare, inherited genetic disorder that prevents the body from properly breaking down certain complex sugar molecules. Over time, those substances accumulate in cells, causing progressive damage, particularly to the brain and nervous system.  The disease is often described as a form of childhood dementia because children can gradually lose abilities they previously had, including speech, cognitive function, and mobility.

For Tammy, the concern isn't simply that Tate is getting older. It's that each passing month could affect his ability to benefit from treatment.

 ​A Diagnosis That Took Too Long

Tate's journey began with an autism assessment when he was two years old. A clinician noticed something unusual about the shape of his head, which led to a CT scan and the discovery of a condition called craniosynostosis.  Additional imaging revealed abnormalities in his brain, and by March 2024, doctors were investigating the possibility of a childhood dementia disorder.

Over the following year, Tammy traveled between hospitals in Swansea, Cardiff, and Birmingham, searching for answers. 

Then, in April 2025, she received a letter from Tate's medical team confidently reassuring her that he did not have Sanfilippo syndrome.  She pinned that letter to her kitchen board.  After more than a year of uncertainty, she thought she could finally put that possibility behind her.

Unfortunately, the relief was short-lived.  Just a few months later, doctors raised the possibility of Sanfilippo again. In September 2025, Tate was formally diagnosed with Type A.

Throughout that period, Tammy had been researching the disease herself and connecting with other Sanfilippo families online. She recognized similarities between Tate and other affected children, even when medical professionals were reassuring her otherwise. Following the diagnosis, she began contacting clinical trials, only to discover that Tate was already beyond the age limits for some of them. One rejection arrived when he was just five weeks past the trial's cutoff age.
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There's no way to know whether an earlier diagnosis would have changed his opportunities. But it's understandable why Tammy struggles with that question.  For children with progressive diseases, time is something families cannot afford to lose.

An American Breakthrough, an Ocean Away

On September 17, 2026, the U.S. Food and Drug Administration approved a gene therapy for certain children with Sanfilippo syndrome Type A.  For families who have spent years following research developments, it was an extraordinary milestone.  Tammy described her reaction as a "happy panic attack." She had spent months fundraising, advocating, and holding on to the possibility that this treatment would become available.

But the following morning, reality set in. The treatment had been approved in the United States.  Tate lives in Wales.  And Tammy was now facing the challenge of figuring out how to get her son access to it.

Where Is Wales, and Why Does It Matter?

For American readers who may not be familiar with Wales, it's a country of approximately 3.2 million people located immediately west of England. Along with England, Scotland, and Northern Ireland, it makes up the United Kingdom.  Tammy and Tate live in Swansea, a coastal city in South Wales.
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Wales has its own publicly funded healthcare system, known as NHS Wales. Unlike the United States, where private health insurance plays a major role in paying for medical care, most healthcare in Wales is provided through the National Health Service.  There are advantages to that system, including access to medically necessary services without the kinds of direct charges many American families encounter.

But access to newly developed, highly specialized treatments can present different challenges. A drug approved by the FDA in America isn't automatically approved in the United Kingdom. Medicines must go through the appropriate UK regulatory process, and separate decisions may determine whether the NHS will fund them.

For a rare disease affecting very few patients, those decisions can be particularly complicated. And for a child with a progressive condition, waiting months or years can have serious consequences.

Tammy is understandably concerned that by the time treatment becomes routinely available through the NHS, Tate's condition may have progressed beyond the point where he would qualify. That's why she's exploring the possibility of bringing him to America.

According to Tammy, the family has been given an estimated treatment cost of £2.95 million, with additional hospital, travel, and accommodation expenses potentially bringing the total higher. She is still working to obtain clearer documentation of those costs and determine what would be required for Tate to receive treatment in the United States.

There are also medical eligibility questions that must be answered, including antibody testing. Fundraising alone cannot guarantee that Tate will qualify.  Nevertheless, Tammy is determined to pursue every reasonable opportunity while her son remains active and enjoying life.  

A Special Thank You to America

One of the things I appreciated most about my conversation with Tammy was her genuine gratitude toward the American Sanfilippo community.  She spoke about the researchers, advocates, and families in the United States who have helped make this treatment breakthrough possible. But she was equally grateful for something much simpler: parents helping other parents.  "You guys have been our biggest supporters," she told me. "You guys have really helped us with the information, with support, even just reassurance."

That struck a chord with me. When my own son, Connor, was diagnosed with Sanfilippo Type C, connecting with other families became an important part of understanding the disease and finding our way forward. Over the years, I've seen how powerful those connections can be. And increasingly, those relationships extend far beyond our own borders.

Through the Sanfilippo Project, I've had opportunities to connect with parents in countries including Spain, Australia, China, and now Wales. Different healthcare systems. Different languages. Different obstacles. But the same determination to help our children.

Tammy shared a particularly meaningful example of how awareness can make a difference. Another family reportedly recognized similarities between Tate and their young son, Cole, after seeing Tate's videos online. That connection helped prompt further medical investigation, and Cole was subsequently diagnosed with Sanfilippo.  It's a reminder that sharing one family's story can sometimes help another family find answers.

A Community Rallying Around Tate

Before Tate's diagnosis, Tammy wasn't especially active on social media. She had roughly 500 Facebook friends and certainly hadn't envisioned herself organizing a major fundraising campaign.  Today, she's become a tireless advocate. She's sharing educational videos, organizing fundraising events, connecting with other Sanfilippo parents, and working to bring attention to childhood dementia and rare disease treatment access.

Her community in Swansea and surrounding areas has rallied behind her. At the time of our October interview, Tammy reported that approximately £170,000 had been raised, with more than 30 fundraising events scheduled over the following two months. It's a remarkable community effort, although still a considerable distance from the estimated amount she believes may be needed.

And Tammy's ambitions extend beyond Tate.   She wants to help improve treatment access for other UK families, encourage earlier diagnosis, and bring greater attention and resources to rare disease research.
Her immediate priority, understandably, is her son. But she doesn't intend to stop advocating once his situation is resolved.

The Power In Numbers

Near the end of our conversation, I asked Tammy what message she most wanted to share with people watching. Her answer was simple: "It's power in numbers." She understands that most people don't have millions of dollars to give. She isn't expecting one wealthy individual to solve everything.  Instead, she's hoping that enough people will hear Tate's story, share it with others, and contribute whatever they can.

And perhaps someone watching will have a connection to a researcher, physician, medical organization, business, or potential donor who could help move things forward.  That's one of the beautiful things about advocacy. You never know who might be listening—or who they might know.

How You Can Help Save Tate

Tammy has created Saving Tate accounts on Facebook, Instagram, and TikTok, where she shares updates about her son, fundraising activities, and the family's ongoing efforts to access treatment. The campaign's fundraising link is available through those accounts, with donations administered through Just4Children.

If you're able to contribute, please consider doing so. And even if donating isn't possible, sharing Tate's story can help introduce his family to people and resources they might otherwise never reach. Here's where you can find them:
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• Click here to follow Tate's journey on TikTok
• ​Click here to follow Tate's journey on Facebook.
• Click here to follow Tate's journey on Instagram.
• Click here for the JustGiving.com fundraising page to learn more and donate to Tate's fight.

At the Sanfilippo Project, our mission has always been about raising awareness, sharing information, and bringing people together. Increasingly, I believe that mission needs to extend beyond any one country.
 Because when researchers make progress in America, families in Wales should know about it. When a parent in Australia learns something valuable, families in Europe should have the opportunity to benefit from that knowledge. And when a mother in Wales needs help, I hope the American rare disease community will be there to lend a hand.

We may not be able to eliminate every obstacle these families face. But we can certainly do a better job of connecting the dots.  And somewhere in Swansea, Wales, there's a little boy named Tate who is still running around, enjoying life, while his mother works tirelessly to give him the best possible future.

Let's help her make that happen.

Click below to watch the full interview (34 minutes long):

A lifelong Michigan resident, Sandy Reamer has spent more than two decades caring for her son, Austin, who was diagnosed with Sanfilippo syndrome at age three. Like so many parents, she knew something wasn't right long before doctors had answers. Austin struggled from birth, and after years of appointments, scans, and unanswered questions, her instincts were finally confirmed.

Then the real journey began.

Sandy immediately went to work. She researched every option, traveled to Duke University to explore a cord blood transplant, enrolled Austin in multiple Natural History studies and clinical trials, and made one difficult decision after another with a single goal in mind: giving her son every opportunity possible.

Looking back today, she has no regrets.

"I feel like we tried everything we could."

That's a sentence every rare disease parent hopes they'll be able to say someday. It's not about finding a cure. It's about knowing you left nothing on the table.

One of the biggest lessons Sandy has learned over the years is not to spend too much time worrying about tomorrow.

"I definitely live minute to minute. If I start thinking about the future, it really puts me into a downward spiral."

Instead, she focuses on what she can do today. Sometimes that's researching another therapy. Sometimes it's managing seizures or another sleepless night. And sometimes it's loading Austin into a specialized racing chair and heading out for a run.

If you've seen Sandy's social media, you've probably seen the photos. She regularly pushes Austin through local 5Ks and community races. It's become more than exercise—it's therapy, stress relief, and a way to keep both of them moving forward. Not every run is easy. Laughing about Austin's occasional protests, Sandy simply tells him, "Nope... we've got to train, buddy."

That same philosophy carries into one of her biggest pieces of advice for younger Sanfilippo families: Keep your child moving.  Sandy intentionally delayed using a wheelchair for as long as possible because she believed every step mattered. Walking. Swimming. Horseback riding. Running. Anything that kept Austin active and engaged.

"I really think that's the key... just keep them going."

Of course, life with Sanfilippo hasn't been without moments that, years later, somehow become family legends.

Sandy laughs now as she remembers Austin as "the most aggressive kid ever." He'd steal canes from elderly people, swat unsuspecting strangers, and even terrorize babies. Those moments certainly weren't funny at the time, but like so many families living this life, humor eventually found its way back into the story.

One of the most interesting parts of our conversation came near the end, when Sandy shared the dramatic improvement Austin experienced after being evaluated by an immunologist for recurrent respiratory illnesses. Testing revealed an immune deficiency, and he began receiving monthly IVIG (intravenous immunoglobulin) infusions. According to Sandy, the difference has been remarkable, helping reduce the serious respiratory infections that had previously led to repeated hospitalizations.

Every child is different, and IVIG is not a treatment for Sanfilippo itself. However, families dealing with frequent respiratory infections may wish to discuss an immunology evaluation with their child's medical team.

If you'd like to learn more about IVIG therapy, here's a helpful overview from the U.S. National Library of Medicine: 
https://medlineplus.gov/druginfo/meds/a624082.html

When asked what advice she'd give to a family just beginning this journey, Sandy didn't hesitate.

"Every day is precious. Make every day like it's your last."

Simple words.  Powerful words.  The kind that only come from someone who's lived them. That's why Sandy Reamer is a badass.  Not because she's fearless.  Not because she has all the answers.  But because for more than twenty years she's continued to adapt, to learn, to advocate, and to love Austin with everything she has.
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*Editor's Note* --- This interview was recorded in November 2025.   As our Sanfilippo community continues to learn from one another, we look forward to catching up with Sandy again in the months ahead to hear how Austin is doing and what new insights she has to share with families walking this same journey.

Now let's get to the videos...

QUICK CLIP (1 minute): Sandy talks about how she got into running.

When Jackie Glichowski first became a mother, she never imagined she’d have to perform CPR on her newborn daughter. But that was just the start. Her daughter Scarlett had barely made it out of infancy alive — rushed to the hospital at five weeks old after a sudden pulmonary hemorrhage, resuscitated in Jackie’s arms, and kept on life support for two weeks. There was no explanation. No clear cause. No answers.  And that was only the beginning.

Scarlett, now 11, would go on to face developmental delays, behavioral outbursts, surgeries, and countless evaluations. But a formal diagnosis wouldn’t come until 2023 — after Jackie, almost by accident, stumbled onto a TikTok of another child with Sanfilippo syndrome. “It was Carrie and Hayden Fowler,” she remembers. “I watched that video, and I just had this awful feeling in my gut. Scarlett reminded me so much of her. It haunted me.”

That gut instinct — plus years of relentless advocacy and deep professional experience in the developmental disability field — is what finally led Jackie back to genetics. And this time, she pushed for a test for MPS III (aka, Sanfilippo Syndrome).  The result was exactly what she feared.

The Diagnosis That Finally Made It All Make Sense

Scarlett has Sanfilippo syndrome, a rare genetic disorder often called “childhood Alzheimer’s.” It causes progressive brain damage, loss of skills, and ultimately early death. Her case is attenuated — a slower-progressing form — but it doesn’t come with a roadmap.  “She could be walking until she’s 30, or lose that ability next year,” Jackie says. “Nobody can tell me what’s coming.”

What they can do, she says, is listen to parents. Especially moms like her, who have lived through the chaos.  “I’ve worked in this field for 20 years. I know how to navigate IEPs. I know what services should look like. And I still had to fight like hell to get Scarlett the support she needed.”

Scarlett only got a 1:1 aide last year — despite years of behavioral meltdowns, academic regression, and failed medications. In one district, she was reduced to attending school just three hours per week. “We’re not dealing with typical behavior,” Jackie explains. “Her brain is literally deteriorating. She’s not choosing this.”

What Schools and Communities Can Do

Jackie is clear: the world doesn’t need to tiptoe around her daughter. But it does need to better understand her. “Scarlett may still be verbal, but what comes out isn’t always what she means. She might say, ‘Shut up, butthole’ as a greeting,” Jackie laughs. “It’s hard to explain that in a grocery line.”
She’s had to comfort confused strangers, defend herself at gas stations, and even try to explain Sanfilippo during a checkout. “I want to make her a vest that says what she has,” she jokes, only half-kidding.

What helps most? Compassion. Patience. A willingness to learn.

“I tell schools: this isn’t autism. It’s not Down syndrome. It’s neurodegeneration. Her brain is misfiring. ABA isn’t going to fix that.”  And for families, Jackie recommends having business cards or handouts to raise awareness — a quick way to explain the unexplainable to the outside world.

One Mother’s Mission

Through it all, Jackie keeps her sense of humor, her strength, and her willingness to share — even when it’s hard..  “I don’t love attention. I didn’t go public with the diagnosis right away. But eventually, I realized sharing helps. It helps other parents. It helps Scarlett.” And it might even save a life.

“If I hadn’t seen that TikTok, I don’t know when we would’ve gotten diagnosed,” she says. “So I tell every parent: trust your gut. You know your child. And if something doesn’t feel right, don’t stop.”

To support Scarlett and learn more about Sanfilippo syndrome, visit Cure Sanfilippo Foundation or Team Sanfilippo. Follow Carrie and Hayden’s story on TikTok. Explore more family stories at The Sanfilippo Project.

Texas mom Ashley Funke’s daughter Alivia (now 13 years old) displayed an odd series of medical diagnoses starting very early on in her life. First it was Arthritis at age 3, then Intellectual Disability at 4, and even autoimmune Hepatitis - a liver disease - at age 7.  Her mind went to a potential Autism diagnosis, but her mama gut was telling her otherwise – there was definitely something else going on here, and Ashley was resolutely determined to keep digging. In fact, as recently as last year, Ashley even took Alivia for testing to see if she might have Encephalitis (she doesn’t). 

The final proverbial stab to the heart for Ashley came a few months after she and Alivia's dad took their daughter for comprehensive genetic testing, back in late 2023.  After a couple agonizingly stressful months waiting - through Thanksgiving, Christmas and the New Year holidays - the test results finally came back in February of this year (2024).

Those results were just about as crushing as humanly imaginable for any parent... Their daughter Alivia (12 years old at the time) was diagnosed with Sanfilippo Syndrome (MPS3A), often described as ‘Childhood Alzheimer’s’ because of its progressive and neurodegenerative effects on the child.  Only about 1 in 80,000 children are born Sanfilippo Syndrome. Life expectancy is teens to early adulthood, and no cure nor treatment currently exists.

Early on in her 'Sanfilippo Mama' journey (post- diagnosis), Ashley began to share her daughter’s and family’s Sanfilippo journey on social media. But while the support and love from so many people was absolutely encouraging and comforting, the public blowback – and even outright accusations that she was concocting this whole story to gain sympathy and publicity (!) – horrified her.  She just couldn’t believe that she was being accused of ‘faking’ her daughter’s Sanfilippo Syndrome diagnosis for sympathy and attention.  Here's the thing - Unlike most children with Sanfilippo, Alivia happens to still be fully verbal and mobile - for which she is so deeply grateful - but this is not the typical path for a teenager with this disease.  
 
But Ashley insists that the love and support that she's received from friends and family over the past harrowing year has more than outweighed the hate, and for that she feels incredibly grateful.  One thing she's particularly grateful for is the way that others have stepped up to be there for Alivia's siblings.  After all, they too are doing their best to navigate their own 'Sanfilippo life' journeys, and that in itself is a tremendous burden for any kid.   

​"They'll take my other kids out with them for one-on-one time - or even an overnight - to help make sure that they too feel special and seen and heard. As an individual; not just as the sibling to a child with a devastating disease.  It gives them a chance to feel like they're not just Alivia's sibling, but they're just them.  That's huge.  My family and I are so lucky to have these people in my life". 

One of our dads spends a good chunk of his  life under water protecting his nation. His family at home (primarily his wife Noelle) tackles much of the Sanfilippo journey on their own while he's away at sea. Fighting to maintain home/life balance is hard for all of us. Billy's story drives home just how complicated those choices sometimes are.  His son Logan, 17 years old, has Sanfilippo Syndrome (type A).

As parents of Sanfilippo kids, we are all fighting battles every day. Pennsylvania dad Cory Hooks responded to an emergency situation in a very dad-like way.  When his son Trent (Sanfilippo type B, now 18 years old) experienced his first seizure 9 years ago, he was the only one home that day (his wife Jamie was at work).  Cory didn't know what to do at the time. But his first instinct was to throw his son over his shoulder and drive like a bat out of hell straight to the hospital.

Indiana dad Shawn Walsh's son Cannon (age 8, Sanfilippo Syndrome) has never had a seizure, fortunately, but all of that scary stuff is on his mind during any given week. And the way that Shawn copes with that is often by talking to other teachers and friends about what his son is going through. Conveniently, Shawn is a school administrator with a background in special needs education - expertise he is eager to share with the rest of our community.

Speaking of teachers and the school system, Brooklyn (NY) dad Jeremy Weishaar found himself navigating scary new terrain when his son Jonah (now 16, Sanfilippo Syndrome type C) was about to transition from elementary school to middle school a few years back.  He and his wife (Jill Wood) were assured by the middle school teacher their son would be in great hands by staying put in the public school system.  But his elementary school teacher thought otherwise.  "Jonah will get eaten alive there", she cautioned them.  They listened.

Florida native Randy Humphrey's daughter Fiona is no longer able to go to school. That's because Sanfilippo Syndrome has ravaged her body and mind so aggressively that she can no longer perform most of the daily functions she previously could - things like self-feeding, toileting, communicating, you name it.  Randy knows that each new day that Fiona is here on this Earth is a gift, and he will continue to cherish every precious moment of it.    

Lew Montgomery is a powerful example of an individual who turned the most profound personal grief into help and a guiding light for others. He has been kind and vulnerable enough to share his Sanfilippo journey in the past.  His is a story that all Sanfilippo parents can learn from.  When his son Lucas was diagnosed with Sanfilippo Syndrome (in the early 2000's), there was no social media or Facebook or anything like that for Lew and wife Stacey to turn to for guidance and support. Lucas was the only known case of Sanfilippo Syndrome in the entire state of Iowa at the time.  How would they live this new life? How could the family help raise awareness and funding for cause? Lew fell back on the lessons of teamwork and bonds of friendship from his football career to raise money for the Sanfilippo cause, spread awareness, and ultimately leave a powerful legacy for his son that continues to shine bright in their community to this day. In honor of Lucas, the Montgomery family remains as committed and active as ever in their advocacy efforts to help one day defeat Sanfilippo Syndrome.

I'd like to take a moment to acknowledge my new friend Dave Ross (from England), whose own health journey led him to become an advocate for men like himself living with rare diseases (in his case, Cowden's Syndrome). In  2020, Dave created a men's mental health awareness group (that meets online on a regular basis) to provide men like himself with a safe and inclusive place to feel a little less alone in their own rare-disease health journeys.  We look forward to partnering up with Dave on initiatives going forward, as there is clearly a commonality across the two segments of the 'rare' population that we each hope to reach and inspire to action.

When I started RareDads RoundTable (RDRT), I wasn't sure what to expect. What I am finding is that the hardest topic in my life to talk about is easier to talk about with other dads going through the same thing.  I know that the dads who have joined us thus far feel the same way and look forward to returning to share their stories in an environment of understanding and support. If you or someone you know would benefit from joining us, sign up here.  We hope to see you soon, and we look forward to hearing your story too.   
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