From rare spinal disease to dancing, how one tiny patient is living a full life

Hillary Stalker is a wealth advisor that lives in Franklin, Tennessee. She recently wrote to us, and asked that we share her daughter Ezzie's story. 

Ezzie was diagnosed with a rare disease at a young age. But as Hillary told us, Ezzie hasn't let that stop her from living a full life.

Here's why Hillary says her family is making the most of what's become a special moment in their lives:

"We didn't hit a home run," the surgeon told us. I will never forget the knot that settled in my throat.

At six weeks, my daughter Ezzie was diagnosed with spina bifida occulta with tethered spinal cord syndrome and an intradural lipoma of the spine. The doctors who evaluated her said she would likely spend her life with minimal mobility and no bladder control. Two weeks later, Ezzie went through spinal surgery to try and restore her mobility and bladder function. They tried, but fell short.

Nothing else in our lives mattered but giving our child every chance to thrive. We picked up our lives and moved to Nashville to be closer to the specialists and neurosurgeons who would need to work with her in the crucial early years of her life.

She aced her physical therapy, to the point where our insurance provider was no longer willing to foot the bill. The therapist suggested that Ezzie begin a toddler ballet course to build coordination and to socialize with her peers.

Ezzie came alive in those classes. To this day, she has never stopped moving or dancing if she can help it. But life has not made it easy. Two years ago, at age 6, she lost sensation in her legs and feet, and required two bouts of spinal surgery. She had to re-learn how to walk. Her mobility came at the cost of her bladder control. It felt like we had to choose between pieces of Ezzie's dignity.

We did our best. But Ezzie understood that her classmates did not need three manual catheterizations every day, one of which had to be administered in school hours.

Then last year, Ezzie's doctors informed us of a trial procedure at Vanderbilt Children's Hospital. It was called sacral neuromodulation, and it meant connecting a device like a pacemaker to her damaged sacral nerve root, regulating her bladder function with electrical pulses. The procedure was not FDA approved for children. We had no guarantee it would work.

How could we refuse?

If we didn't try, we would be holding her back from a life-changing opportunity that might give back her dignity and freedom to be a kid. Every child like Ezzie should have the resources and access to medical care to live to their greatest potential. We had come this far, and my husband and I knew we had to try.

In April of 2025, Ezzie went under the knife. A team of neurosurgeons and urology surgeons implanted the device.

It worked. Ezzie's bladder function rose from about 5% to 80% over the following year.

She is on a competitive dance team now. Her definition of a good day is one with no pain, no doctors, and time spent with her friends. We don't always get those. We know this is a good chapter of her life, and we don't know how long it will last. But we want to make the most of it.

Thanks for sharing this chapter in Ezzie's story with us, Hillary.

More information on tethered cord syndrome can be found at Tethered Cord Support Alliance.

Michele Lopez wrote to tell us that our discussion in last week's newsletter about the power of the human voice, and the impact of losing it, resonated with her. 

Michele said that it was a sudden change in the voice of her mother-in-law, Patty Rush, that led to her diagnosis with MSA-C, a rare neurodegenerative disorder that causes severe, progressive symptoms like ataxia and slurred speech as the brain deteriorates.

That diagnosis led Patty to have some difficult, but important conversations with her loved ones.

Here's what Michele told us:

In only 3 short years, it stole [Patty's] voice and I wished I had learned sign language to talk to her, especially when she could no longer write her needs or wishes.

I'm grateful we were able to secure her wishes for care and end of life wishes while she could express them. (We did that in May, by October she couldn't really speak & she left us in December.. so fast!)

Her wish was to give the greatest gift to us, donate her brain for research in case it's hereditary so her great grandkids could have a chance. This is something that needs to be arranged prior to passing, and we wouldn't have known to do it without her telling us.

I would strongly advise anyone with this diagnosis to have the hard talk while your loved one CAN tell you how they want you to treat them.

It's uncomfortable, but far less stressful for everyone knowing what your next step is when it happens. You will be grateful you did, and the love can shine through knowing it's what they wanted.

Below is a picture of Patty and Michele.

More information on MSA-C can be found at the National Ataxia Foundation. 

When Lisa Craine was diagnosed with cholangiocarcinoma, a rare, aggressive cancer that forms in the bile ducts, there weren't many treatment options available. Doctors gave Lisa 6 months to live.

But 15 years, 8 tumors, and multiple liver resections later, Lisa is still here. 

She wrote to Cures to tell us about how her experience has changed her.

Here's what Lisa told us:

Everything I have been through has made me a better, stronger and more relatable advocate and mentor for others patients. Having experienced many types of chemotherapy, radiation and surgeries along with all the side effects and possible issues, I am more relatable to the community I serve.

My story gives other rare cancer patients HOPE. I was given six months to live in 2010 and if I would have listened to that timeline, I would have given up hope and probably wouldn't be here today.

I turned my cancer into a passion to help others by being a volunteer mentor, patient advocate and research advocate. I have now helped over 1300 patients.

I have also started our own 501c3 and we raise research money to be granted to promising research each year. I love people and I love my life. It is so much more rich and fulfilling than my pre-cancer days. 

Lisa went on to tell us about a strong friendship that developed through a shared experience:

When I was first diagnosed, I read anything I could find about this rare cancer. I found an article in the New York Times about a woman from Montana who was also a cholangiocarcinoma patient. She was participating in a trial at NIH...and was the first cholangiocarcinoma patient to receive T- cell therapy.

I wrote the editor and asked him if he would give my name and number to the patient in Montana and he connected us. We have been friends for 15 years!

We do a lot of advocacy work together, and she is now the Advocacy Director at Cholangiocarcinoma Foundation.

This ugly cancer cultivated a beautiful friendship and a call to action for both of us to improve the lives of cholangiocarcinoma patients, one patient at a time. 

Thanks for sharing your story with us, Lisa.

More on Lisa's nonprofit can be found by clicking here.

We've included a picture of Lisa and her friend, Melinda Bachini, below.

And some potentially encouraging news on the cholangiocarcinoma front: this week Partner Therapeutics submitted a supplemental Biologics License Application the FDA for a new treatment for the disease.

Linde Jacobs wrote to tell us about how she's preparing her family for a future that will likely be much different as she ages.

Linde's mother died after her battle with the rare neurodegenerative disease Frontotemporal dementia, or FTD - the same disease Bruce Willis was diagnosed with in 2022.

While Linde does not currently show any symptoms of the disease that killed her mother, she tested positive as a carrier - which means there's a 99% chance that she too will develop the disease.
Linde is 38. Her mother began to develop symptoms around the age of 45.
Here's what Linde told us:

I learned my genetic status just 4 weeks after my mother passed away, mainly to better prepare my family so that my husband and children would not have to suffer from the consequences of FTD symptoms that we endured with my mother.
I wanted to spare them the trauma and agony that has completely shaped who I am as a person. I also knew that learning this information at 33 would give me an element of time that my mother didn't have - to try and understand the disease and to see if, by some crazy Hail Mary chance, I could somehow defeat the genetic odds placed before me...

...Working as an RN by profession, I have seen how a parent placed with impossible odds can find a way to save their child...this was my driving force - to protect my kids from watching this happen to me, and ridding them of the inevitable guilt that would haunt them for the rest of their lives.
My first turning point was to start with the medical and research community, as I knew that if I could get them to care about what was happening to my family it would give us the best chance at solving the disease.

I have been very involved in advocacy work, presenting at conferences, co-founding a nonprofit patient advocacy organization, and desperately trying to fight my way to a different ending, or at least surround myself with a large cohort of the top medical professionals in FTD to ensure that my FTD journey will not be as tumultuous as my mother's.

For more on the advocacy group she started, check out: https://curemaptftd.org/en.

This week, Tarah O'Sullivan wrote to tell us about her children, Drake and Vivian. Drake is 9, and Vivian is 6. 

Both were diagnosed with NKH, a rare metabolic disorder that is often fatal.

Here's what she told us:

I'm writing to you not as a founder or advocate — but as a mother.

My husband Eric and I are raising two children with a rare, terminal brain disease called Nonketotic Hyperglycinemia (NKH).

When our son Drake was just two weeks old, we were told there was no cure, no meaningful treatment, and very little hope. NKH causes toxic levels of glycine to build up in the brain, leading to severe seizures, profound neurological damage, and often death in infancy.

Years later, we would hear those same words again when our daughter Vivian was born with the same diagnosis.

You never imagine you'll have to fight for your child's life in a laboratory. But that is exactly where we found ourselves.

We could not accept that nothing could be done. So we started the Drake Rayden Foundation from our living room. We began raising money any way we could — small fundraisers, community events, telling our story over and over — trying to move research forward for a disease most people have never heard of.

Over the years, we've built partnerships with scientists, including researchers at University of Texas Southwestern, working toward a gene therapy that could correct the underlying genetic cause of NKH.

And now, something extraordinary has happened...

...Andelyn Biosciences has agreed to manufacture the clinical-grade gene therapy needed to move toward a human trial.  We have written a blank check and we will stop at nothing to get the numbers needed to make this a reality.  This means the path toward a clinical trial is no longer theoretical. It is being built...

But like so many other parents caring for a child with a rare disease, Tarah and Eric now face a daunting economic reality:

Though they were able to bring the cost of enrolling Drake and Vivian in a clinical trial down by managing the project themselves, it's still going to cost them roughly $800,000 per child to manufacture the drug and perform the procedure.

That's $1.6 million combined.

Tarah and Eric raised more than half of that through grassroots fundraising, but they still have a little more than $700,000 to go. 

Tarah and I sent a couple of emails back and forth. Below are excerpts from those exchanges.

I think it speaks to the courage, the faith, and the sense of desperation that so many parents who find themselves in this situation have.

...This therapy would not only help Drake and Vivian. It could change the future for every child born with NKH after them. Right now, families who receive this diagnosis are handed grief instead of options. We are trying to change that...

...There is no pharmaceutical company funding this.
There is no federal grant covering the cost.
There is no corporate sponsor carrying the burden.

It is us. Two parents. And a community that believes our children deserve a chance...

...The manufacturers have already started making the drug, the hospital is ready for the trial, and we have stepped out in faith that we will raise the final numbers to save my children's lives.  It is all riding on this.  We have to succeed. There is nothing else coming...

For more on Drake and Vivian, visit the Drake Rayden Foundation.

This week, we received an email about Amy Messigian, an adult who lives with spinocerebellar ataxia type 1 or SCA-1, a fatal, hereditary condition with no FDA-approved treatments.

Amy was in her 30's when she was diagnosed, and as the disease progressed, her symptoms became worse.

In 2017, she enrolled in a clinical trial for an investigational medication, troriluzole. Her symptoms improved, and she remained on the treatment for years.

Last year, the FDA declined to approve the drug for SCA-1 patients, citing the need for additional data. Getting that data in the rare community can sometimes be a challenge that's too difficult to overcome. In rare diseases - patient populations are small, and even identifying enough people to participate in a study can take years.

On Thursday, Amy was in Washington as a guest to a witness that was testifying before a Senate committee hearing on the regulatory hurdles that are slowing the approval of rare disease treatments. While Amy didn't get to testify herself, here's what she would have told lawmakers if she had the chance:

Imagine someone you know who is severely developmentally disabled. They struggle to communicate, to walk without falling, to feed themselves, or even to chew and swallow safely. Everyday tasks—bathing, writing, using a computer—are impossible. Their hands cannot do what most of us take for granted. Incontinence requires constant care. Their world grows smaller each year as their body slowly betrays them.

You may know someone like this.

That person is me.

I have spinocerebellar ataxia type 1 (SCA1), a rare, progressive, and incurable neurodegenerative disease. It robs the body of coordination, speech, balance, and ultimately independence. There is no cure. There is no remission. There is only decline.

Because SCA1 is progressive, I live with the certainty that my abilities will continue to fade. Over the coming years, I expect to lose skills I now rely on—walking steadily, speaking clearly, swallowing safely. Eventually, I may not be able to care for myself at all. I watched this disease take my mother. She died from SCA1 at just 60 years old. I know firsthand where this road leads.

Living with a terminal diagnosis changes how you measure time. You do not think in decades. You think in years. In seasons. In moments.

For the past nine years, I have participated in a clinical trial for a drug called troriluzole. It is not a cure. It does not promise reversal. Its purpose is simple: to slow progression.

And it has.

In SCA1, patients typically decline by one to two functional points per year, with a steep and devastating acceleration after about five years. That steep decline should have come for me much sooner. Instead, it took nearly a decade.

My physician and I both recognize why: troriluzole's neuroprotective effect.

In plain terms, this drug has given me time—more time in a stronger body. Not an extra year or two, but more than five additional years of preserved ability. Five more years of walking. Five more years of speaking clearly. Five more years of independence.

If someone you loved had a terminal illness, wouldn't you want to give them five more good years?

Troriluzole has done that for me—with zero side effects. We see countless medications advertised with warnings that are, at times, worse than the disease itself. In my case, I have experienced none. No complications. No tradeoffs. Only meaningful slowing of a fatal disease.

For me, that feels nothing short of miraculous.

I had high hopes for how novel therapies like troriluzole would be evaluated by the FDA. I believed—and still believe—that we can lead the world in advancing treatments for rare and devastating diseases like ataxia. I believe we can be the country that finds the first true cure.

But to do that, we must rethink how we evaluate drugs for progressive, fatal disorders. When a medication demonstrates the ability to slow decline, extend independence, and does so without meaningful side effects, the burden of delay carries real human cost.

Every year of red tape is a year patients like me cannot afford to lose.

We still have the opportunity to lead. We still have the opportunity to give families more time. But we need a better strategy for evaluating and approving therapies like troriluzole—because for people living with SCA1, time is not abstract.

It is everything.

Amy's story reminds us of the real-world impact that regulatory decisions have on the rare disease community - and why time is such a precious commodity for those patients and their loved ones.

Thanks for sharing your story with us, Amy.

Just in time for the Olympics - this week's story focuses on a Paralympic hopeful who refuses to let his rare disease keep him from his achieving his dreams. The Milken Institute reached out to tell us about Xavier Marsh, a 17-year old breaking barriers running cross country. After Xavier was diagnosed with a rare disease that impacts his sight, his family contacted Milken to partner on ways to fundraise.

Here's what Milken sent us on behalf of Xavier's family:

When Xavier Marsh was 13 years old, he lost his central vision due to a rare disease called Leber Hereditary Optic Neuropathy (LHON). The disease is inherited through the mitochondria which are passed from mother to child, and anyone carrying an LHON mutation is at risk of suddenly becoming legally blind at any point in their life, but not everyone develops symptoms of LHON vision loss. It's one of the major questions perplexing those who are studying this disease.   

Xavier is now a 17-year-old junior in high school and a thriving young man who is not letting anything hold him back, including competing on the Varsity Cross Country team for his freshman and sophomore years and the Varsity Track and Field team for all three years at his high school in Coronado, California. He is also working hard towards a Track and Field Paralympic invitation for the upcoming Los Angeles games in 2028.

Xavier and his family, looking to contribute to improved understanding of the disease and work towards therapeutics for the tens of thousands of individuals worldwide living with LHON vision loss, partnered with the Milken Institute to build strategies for advancing LHON research through philanthropic support of many friends connected to the LHON Community.  

In partnership, the Milken Institute released a guide with recommendations on how funding could be invested to see real impact and help people like Xavier...

...While nothing will stop Xavier from pursuing his passion for life, he wants others at risk of becoming affected and each person living with this condition to have every available resource to live their best lives, as well as to support families as they pursue the resources needed to thrive with this diagnosis until there is an effective treatment available.

—The Milken Institute on behalf of Xavier Marsh and his family

In 2021 our daughter Gabi was diagnosed with Usher Syndrome - a rare, progressive, genetic condition that is slowly and relentlessly taking away both her eyesight and hearing. There is no treatment or cure for this condition. Watching this unfold has been heartbreaking in ways we can't fully express, and as parents, we're doing everything in our power to fight for Gabi's future...

...After spending the last several years doing extensive research, attending scientific conferences and meeting with leading scientists and clinicians we believe that an RNA-based gene therapy holds real promise for stopping her vision loss. We're now at a pivotal moment—ready to take the next step in advancing this work. That's what inspired us to launch VisionBound Foundation: a platform to drive progress, fund innovation, and bring hope to families like ours.

We're beginning our journey toward a treatment to save Gabi's eyesight by growing a patient-derived organoid from her blood — essentially a miniature, lab-grown version of Gabi's affected retinal tissue. This allows us to study the disease in a personalized, controlled environment. Alongside this, we're designing a targeted RNA therapy that can correct Gabi's mutations. These first steps are critical in building a therapy that's not only innovative, but deeply tailored to our specific and very rare case.

While we fight every day for our child's future, we're met with a reality where big pharma and many biotech companies show little interest in conditions that don't promise large financial returns. Funding is scarce, research moves slowly, and regulatory hurdles make even the most promising ideas difficult to advance. As a result, we often feel isolated — carrying the weight of advocacy, science, and hope on our own shoulders. That's why what you've started is so important to us -thank you again for bringing light to our struggles and helping spread the awareness our children so deeply deserve.

—Aga Re

We initially thought our son Max was blind. He was eventually diagnosed with CVI and more diagnoses followed - microcephaly, hypotonia, developmental delays, brain anomalies, etc.

We decided to pay out of pocket for Whole Genome Sequence testing. Insurance refused to pay, but I wanted answers. Initially the test came back negative. Our neurologist said science hadn't caught up yet.

We were some of the lucky ones that didn't have to wait much longer. Two months later we received a letter that they reran his sample as a new genetic disorder had been discovered in 2024 and fit his symptoms. He tested positive for ReNU Syndrome. It is estimated that 100,000 people have ReNU, but less than 1,000 have been diagnosed. 

While the news has brought many emotions, he continues to amaze us every single day. He is a determined, joyful, and resilient little boy — full of smiles, strength, and so much love. His resolve constantly reminds us of what truly matters, and we're incredibly proud to be his parents. He's eating well, crawling and cruising, and his vision has improved dramatically. 

There is still so much we don't know about ReNU Syndrome. It is severely underdiagnosed and under-researched — but there are a lot of people now committed to changing that. We're hopeful for treatments being explored already, so soon after discovery, but more awareness and research is desperately needed.

— Jen and Paul Kazazis 

Iris Schultz wrote to us about her son Hunter, who was diagnosed with Charcot-Marie-Tooth Type 4B3, an ultra-rare neuromuscular disease.

Iris says that for three years doctors told her not to worry about the developmental milestones Hunter was missing. They said he'd eventually catch up. Then in May of 2020, right in the heart of COVID, Hunter's parents were given his diagnosis. Iris says that, at the time, he was just the 11th person in the world known to have CMT4B3. Doctors told her there was nothing they could do for Hunter except monitor his progress:

...I refused to do nothing.

I asked Dr. Sabrina Yum, "If I want to do something, what can I do?" She told me to start reading the research papers on the gene responsible for Hunter's disease and to contact the authors. So I did, relentlessly. Day and night, I read every paper ever written on the SBF1 gene. I emailed scientists all over the world. I eventually connected with two mothers who had helped develop treatments for their own children's rare diseases, and I remember hanging up the phone thinking: If they can do this, so can I.

Because COVID had everyone home, doors opened. Scientists answered. Doctors listened. People wanted to help.

In November 2020, we hosted the first-ever CMT4B3 Scientific Conference, over 20 doctors and scientists from around the world gathered for an all-day working session. We analyzed the only tool available at the time, an outdated mouse model, dissected gene therapy proposals I targeted, and built the first research roadmap for this disease. We created a plan.

From there, we formed an impartial Scientific Advisory Board to evaluate proposals and guide our work. Since then, we have funded 11 research projects, published five peer-reviewed papers in five years, and were the first patient group accepted into UAB's NIH funded CPAM program. We are building the entire scientific toolbox for this disease from scratch.

— Iris, Hunter's Mom & co-founder of Hunters CMT4B3 Research Foundation

I'm a Florida mom and a board member of the Hope for PDCD Foundation, advocating for my daughter Harlow and other children living with Pyruvate Dehydrogenase Complex Deficiency (PDCD):  a rare, progressive mitochondrial disease that robs kids of energy at the cellular level and can shorten their lives.

There is currently no FDA-approved treatment for PDCD.

A decades-old drug, dichloroacetate (DCA), has shown promise in clinical research including the clinical trial my daughter Harlow participated in and is already used internationally, yet families in the US like ours are currently fighting for continued access (or even initial access for those not in the expanded access program) while the FDA deliberates next steps. For children with progressive diseases, time isn't on their side, every delay means lost abilities we may never get back.

Our story sits at the intersection of rare disease, drug repurposing, regulatory policy and the very real human cost of slow approvals. It's about what happens when science shows potential, but families are left waiting.

— Kim Higbee, Hope for PDCD Foundation 

I just want to personally thank you for sharing your story. My son was diagnosed in [November] with SYNGAP1 and we are just starting this path. We had his 1st EEG yesterday and I'm currently waiting for a call from the neurologist to explain the abnormal findings.

Today I came into work, and my AMAZING bosses came together to tell me [they'd] seen your broadcast and they are sending me to N.Y. to your [CNBC] Cures Summit in March. I am overwhelmed by the kindness from them. Your sharing your story and announcing CNBC's Cure Summit is why they are doing this and helping to send me there! Thank you from the bottom of my heart for this.

— Kara Sue Stark

I have been living as a rare disease parent for 24 years, with my daughter Julia being diagnosed at 3 months with Neurofibromatosis Type 1 (NF1).  NF1 is a genetic disorder impacting 1 in 3000 people worldwide (or 120,000 Americans) --- making it one of the larger rare diseases.

I decided to dedicate the next phase of my life to helping make a difference for people living with NF1….and their families.  After some advocacy and fundraising work, family education projects, etc., I landed on an idea for how to approach NF1 that wasn't being pursued by academia --- and decided to launch a start-up company to pursue it.  As I suspect is the case with Syngap1, the answer for NF1 may lie in getting the wild-type/good allele to produce more protein, essentially ramping up what the body is already doing right.

—Herb Sarnoff, Julia's Dad and founder and CEO of Infixion Bioscience

Rare disease has shaped my family's life. My father, brother, and sister were all affected, and navigating fragmented systems, siloed research, and limited coordination has been a constant reality for us. That lived experience is what has driven my career-long commitment to disability and the rare disease advocacy.

Professionally, I've worked closely with several rare disease advocacy organizations, helping them build programs, manage complex stakeholder relationships, and bring patient voices into research, fundraising, and public engagement. I've also led and supported large-scale events, convenings, and campaigns—often translating deeply personal stories into moments that move people to action.

— Dina Scalone