Stepping up ‘fore’ Hunter with golf outing

When he was 3, Hunter, who is the son of Iris and Brett, a 2004 Scarsdale High School graduate, and the grandson of Robin and Billy, was diagnosed with Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3), a rare degenerative neuromuscular disease that has no cure and no treatment (https://bit.ly/3MH396C).

The foundation has made incredible strides over the last two years and the latest goal is to raise $200,000 at the foundation’s first-ever golf outing, Play Fore a Cure, at Metropolis County Club on Monday, May 22.

Children with CMT4B3 — about a dozen others were known to have this when Hunter was diagnosed — lose the ability to walk and use their hands, suffer limb deformities and potentially their sight and/or hearing. Eventually the disease can compromise a patient’s breathing, which can lead to premature death.

Hunter has an SBF1 gene mutation that prevents him from properly making the MTMR5 protein needed to suppress autophagy, which causes degradation of cells and the recycling of cellular components and regeneration. Hunter’s cells regenerate too rapidly, which causes phenotypic consequences like neurodegeneration that results in his wearing casts and having physical incapacities.

An article was published in June about the SBF1 gene potentially impacting treatment for Parkinson’s disease as studied at the University of Michigan by Dr. Jason Paul Carreon Chua.

“They think that if they modulate the gene they’ll be able to more effectively get the treatment to Parkinson’s disease to the right location,” Iris said. “So there was all this research on our gene not knowing about us.”

Chua is now at Johns Hopkins and the foundation is looking to fund a research project in which he makes different cellular models with which he can test FDA-approved drugs.

“What’s an exciting impetus for this fundraiser is funding the research and potential repurposing of some FDA-approved small molecule drugs that could potentially be used for CMT patients,” president, co-executive director and general counsel for Genome Project-write (GP-write) Amy Cayne Schwartz, a Scarsdale resident, said. “It’s really exciting to connect with Dr. Chua. He’s hopefully going to be able to help us elucidate a strategy for really modulating the neuronal autophagy and it’s really a matter of understanding the basic science and leveraging his research to determine potential applications for what might be a number of different neurodegenerative diseases of which CMT4B3 is one.

“That’s really important because being able to repurpose an already FDA-approved drug saves tremendous time, resources and is much more knowable. It’s been tested in other patients, so there isn’t that level of risk. It’s something that could be administered in the near-term if it’s determined by Dr. Chua to have potential for addressing the phenotypic consequences of Hunter’s mutation. Very exciting.”

The Schultz family is hoping to fully fund Chua’s research through the golf outing events and auction on Monday. The golf outing itself is sold out, but there are other activities and ways to contribute. Donations can be made and information found at https://www.cmt4b3research.org/.

“The way he does his work is cutting edge,” Iris said. “Our scientific advisory board is very diligent in what projects we take on, they really vet everything we do. They know the team he used to work with and he is just amazing. His work is top-notch and he’s at the forefront of the field. We’re so excited to be partnering with him and to have him included in our research network.”

Through networking, fundraising and advocacy, the foundation has initiated 14 different research projects and is fully funding eight of them.

“It’s amazing to think that three years ago when we started this there was not one lab in the whole world that was researching CMT4B3 and now there’s 14 different labs working on this and they’re working together to try to solve this problem,” Iris said. “The science is evolving so quickly, the whole field of genetic treatment development. The FDA just approved these muscular dystrophy gene therapies. It’s amazing how rapidly the field is evolving, so we have to keep expanding our research network because we want to be on the forefront of what’s going on.”

Among the other studies that are happening are at University of Alabama, which is using different animal models for testing, and University of Miami, which is moving into phase two of its gene therapy project to develop motor neurons that has led to treatments for other types of CMT.

“We know it’s a long journey and we’re not going to treat Hunter tomorrow, but just to see how far we’ve come in the three years is really humbling,” Iris said. “We’re just so appreciative that this team has come together and we have so many different people not just working on this, but collaborating, working together. Every six months we have all of our researchers and our scientific advisory board and Hunter’s amazing doctors come together and give updates and feedback. It really makes the science move faster.”

Schwartz, a foundation board member, called all the Schultz family has achieved in a short time “a tremendous feat.”

“The model that Robin and Iris have demonstrated here is just exemplary,” Schwartz said. “The strength that they have demonstrated is pretty astonishing. They weren’t intimidated by the science, not having a background in the sciences, and understanding associated costs they weren’t deterred. They really took the bull by the horns and from the moment we initially connected they started asking questions.

“When you’re in it, it feels like it’s a slow progress, but when you look back it’s impressive to see how far we’ve come, how much has been developed and how many projects are funded and underway.”

Iris credits Schwartz with being a spark for the foundation since the day they were introduced by another board member,

“She has been such a support in not only helping us reach out to all of our scientists, but with how to connect all of them and how to just make it as efficient as possible,” Iris said. “She has really been the one from the beginning who told us the science there. It’s really changing so quickly. Like if this happened 10 years ago I don’t know that we would have been doing all of this. Gene therapy was a thought, but it wasn’t an actuality. There are so many different treatments now for rare genetic diseases, it’s a whole new field. She’s the one who really pushed us and said, ‘You can do this.’ With her help we’ve gotten so far.”

Another among the many key players has been 2006 Scarsdale High School graduate Jared Casden, who went to Camp Winadu — which fittingly has a motto, “Helping the other guy out” — with Brett and attended Indiana University with Iris and Brett. Casden has secured a treasure trove of sports memorabilia directly from many professional sports teams for the auction, which is sure to bring in big bucks.

“He is relentless and every sports team across the country has donated,” Iris said. “A Miami Heat team-signed basketball. A Bruins team-signed jersey. Not just little items, but big items. I think it’s because Jared is so personable and reaches out to them personally. He shared our story and he’s so passionate about helping Hunter and the foundation. I think it really shows.”

Casden had previously collected auction items for the Scarsdale Fire Department’s Fill-The-Boot Fundraiser for CMT4B3 last fall and was asked to join the foundation’s board. SFD will hold another fundraiser later this year.

Casden stepped up from the moment he learned Hunter had challenges that would impact his life. “When we started our fundraising efforts certain people just stepped forward and wanted to help,” Iris said. “You really see who wants to be a part of it and he’s been a huge supporter.”

Whenever Casden sees Hunter he makes sure to hoist him in the air and give and receive a big smile.

“I enjoy spending time with Hunter and his fantastic family,” Casden said. “Hunter has a phenomenal personality and an awesome attitude. When Hunter falls down, he always gets back up. Hunter is the bravest child I have ever met.”

Hunter is no stranger to ups and downs, constantly seeing a team of doctors and going through various therapies. Over the winter he went through serial casting, where his feet and legs were casted for a week three times in about a month.

“Before that he was walking on the sides of his feet and he was tripping all the time and it was not good, so the serial casting realigned his feet,” Iris said. “It’s not a long-term fix, but we’re hoping it buys us more time before we have to surgically intervene.”

As always, Hunter was “a trooper” throughout the entire process after having broken his orthotic leg braces. As long as he didn’t have to get a shot, he was on board with the casting.

“He left there laughing,” Iris said. “He had the whole team cracking up telling jokes while they were wrapping up his legs and everything.”

Getting the casts off was difficult because his body was weaker after almost a month in casts. Intense rehab in Boston got Hunter back to being Hunter.

“He worked really hard and when he was done he was back to his normal self and I think he was really happy to show off his skills and to be running again,” Iris said. “Just to see the light on his face to go back to school and easily play with his friends was worth the month of it being very difficult.”

Hunter and his family and friends are fighting hard for Hunter and others like him. “Overall he’s a really happy kid, so we want to try to keep that positive attitude for as long as possible,” Iris said.