CNBC Cures: Your rare disease story

In 2021, our daughter Gabi was diagnosed with Usher Syndrome. This is a rare, progressive genetic disease that slowly and inexorably robs people of both their sight and hearing. There is no treatment or cure for this condition. We are heartbroken beyond words as we watch this unfold. As parents, we are fighting with all our might for Gabi’s future…

…After conducting extensive research over the past few years, attending conferences, and meeting with leading scientists and clinicians, we believe that RNA-based gene therapy has a real potential to halt her vision loss. We are now at a pivotal moment. We are ready to take the next step in this journey. That’s what inspired us to launch the VisionBound Foundation, a platform that accelerates progress, funds innovation, and brings hope to families like ours.

We are beginning the journey to a treatment that will save Gabi’s vision by growing patient-derived organoids from Gabi’s blood. This is essentially a smaller, lab-grown version of Gabi’s diseased retinal tissue. This makes it possible to study diseases in a personalized and controlled environment. In parallel, we are designing targeted RNA therapies that can correct the Gabi mutation. These first steps are critical in building treatments that are not only innovative, but deeply tailored to our specific and very rare cases.

As we fight every day for our children’s futures, we are faced with the reality that Big Pharma and many biotech companies have little interest in situations that do not promise significant financial returns. Funding is scarce, research progress is slow, and regulatory hurdles make it difficult for even the most promising ideas to move forward. As a result, we often feel isolated, carrying the weight of advocacy, science, and hope on our shoulders. That’s why what you’ve started is so important to us. Thank you again for shining a light on our struggle and helping spread the awareness that our children so deeply deserve.

—Aga Re

At first, we thought our son Max was blind. He was eventually diagnosed with CVI, and further diagnoses followed, including microcephaly, hypotonia, developmental delay, and brain abnormalities.

We decided to pay for the whole genome sequencing test out of our own pocket. The insurance company refused to pay, but I wanted answers. Initially, the test results were negative. Our neurologist said the science hasn’t caught up yet.

We were some of the lucky ones who didn’t have to wait that long. Two months later, we received a letter saying that a new genetic disease had been discovered in 2024 and that the samples had been retested as they matched his symptoms. He tested positive for ReNU syndrome. It is estimated that 100,000 people are infected with ReNU, but fewer than 1,000 have been diagnosed.

This news brought a lot of emotions, but he continues to surprise us every day. He is a determined, fun, resilient little boy full of smiles, strength, and lots of love. His determination always reminds us of what really matters. We are very proud to be his parents. He eats well, crawls and walks around, and his vision has improved dramatically.

There is still much we don’t know about ReNU syndrome. This disease is severely underdiagnosed and under-researched, but many people are currently working to change this. We are hopeful that treatments are already being investigated so soon after their discovery, but more awareness and research is desperately needed.

— Jen Kazazis and Paul Kazazis

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

Iris said doctors told her for three years that there was no need to worry about Hunter’s developmental milestones. They said he would catch up eventually. Then, in May 2020, right in the middle of the coronavirus pandemic, Hunter’s parents received his diagnosis. Iris said at the time she was the 11th person in the world known to have CMT4B3. Doctors told her there was nothing they could do other than monitor Hunter.

…I refused to do anything.

I asked Dr. Sabrina Yam, “If I want to do something, what can I do?” She told me to start reading research papers on the gene that causes Hunter disease and to contact the authors. So I relented and did so. I read every paper written about the SBF1 gene day and night. I sent emails to scientists all over the world. I eventually connected with two mothers who had helped develop treatments for their children’s rare diseases, and I remember hanging up the phone thinking, “If they can do it, so can I.”

The doors opened because everyone went home due to the coronavirus. The scientists answered. Doctors listened. People wanted to help.

In November 2020, we hosted the first CMT4B3 Scientific Conference, which brought together more than 20 physicians and scientists from around the world for a day-long work session. We analyzed outdated mouse models, the only tools available at the time, dissected my targeted gene therapy proposals, and built the first research roadmap for this disease. we made a plan.

From there, we established an impartial scientific advisory board to evaluate proposals and guide our work. Since then, we have funded 11 research projects, published 5 peer-reviewed papers in 5 years, and were the first patient group accepted into UAB’s NIH-funded CPAM program. We are building an entire scientific toolbox for this disease from scratch.

— Iris, Mother of Hunters, Co-Founder of Hunters CMT4B3 Research Foundation

I’m a Florida mom and director of the Hope for PDCD Foundation, which advocates for my daughter Harlow and other children living with pyruvate dehydrogenase complex deficiency (PDCD). PDCD is a rare, progressive mitochondrial disease that robs children of energy at the cellular level and can shorten their lifespans.

There is currently no FDA-approved treatment for PDCD.

Dichloroacetic acid (DCA), a decades-old drug, has shown promise in clinical studies, including one in which my daughter Harlow participated, and is already in use internationally, but families like ours in the United States are now fighting for continued access (or initial access for those not in expanded access programs) while the FDA considers next steps. For children with progressive illnesses, time is not on their side. Every delay means a loss of capacity that can never be regained.

Our story lies at the intersection of rare diseases, drug repurposing, regulatory policy, and the real human costs of approval delays. It’s about what happens when families are left waiting despite what science has shown is possible.

— Kim Higbee, PDCD Foundation Hope

I would like to personally thank you for sharing your story. My son was diagnosed with SYNGAP1 (in November) and we are just beginning this journey. I had my first EEG yesterday and am currently waiting for a call from my neurologist to explain the abnormal findings.

When I came into work today, my wonderful bosses came together and said they saw your broadcast and were sending me to New York to attend your (CNBC) Cures Summit in March. I am overwhelmed by their kindness. It’s because you shared your story and announced CNBC’s Cure Summit that they’re doing this and helping me get there. I would like to take this opportunity to thank you from the bottom of my heart.

— Kara Sue Stark

I have been a parent with a rare disease for 24 years, and my daughter Julia was diagnosed with neurofibromatosis type 1 (NF1) when she was 3 months old. NF1 is a genetic disease that affects 1 in 3000 people (120,000 Americans) worldwide, making it one of the larger rare diseases.

I have decided to dedicate the next phase of my life to helping make a difference to people living with NF1 and their families. Through advocacy, fundraising efforts, and family education projects, I came up with an idea for a way to approach NF1 that wasn’t being pursued by academia, and decided to start a startup to pursue it. The answer for NF1, as I think it is for Syngap1, may lie in forcing the wild-type/good allele to produce more protein, essentially reinforcing what the body is already doing right.

—Herb Sarnoff, father of Julia, founder and CEO of Infixion Bioscience

A rare disease has shaped my family’s life. My father, brother, and sister have all been influenced, and navigating fragmented systems, siled research, and limited coordination has always been a reality for us. That lived experience has inspired my career-long commitment to disability and rare disease advocacy.

Professionally, I have worked closely with several rare disease advocacy organizations, helping them build programs, manage complex stakeholder relationships, and incorporate patient voices into research, fundraising, and public engagement. He has also led and supported large scale events, rallies and campaigns. They often transform deeply personal stories into moments that move people to action.

— Dina Scaron