CNBC Cures: Your rare disease stories

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 1000 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 underresearched—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